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  • 1.
    Bruder, CEG
    et al.
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Hirvela, C
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Tapia-Paez, I
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Fransson, I
    Segraves, R
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Hamilton, G
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Zhang, XX
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Evans, DG
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Wallace, AJ
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Baser, ME
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Zucman-Rossi, J
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Hergersberg, M
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Boltshauser, E
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Papi, L
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Rouleau, GA
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Poptodorov, G
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Jordanova, A
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Rask-Andersen, H
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Kluwe, L
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Mautner, V
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Sainio, M
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Hung, G
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Mathiesen, T
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Moller, C
    Pulst, SM
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Harder, Henrik
    Linköping University, Faculty of Health Sciences. Linköping University, Department of Clinical and Experimental Medicine, Oto-Rhiono-Laryngology and Head & Neck Surgery . Östergötlands Läns Landsting, Reconstruction Centre, Department of ENT - Head and Neck Surgery UHL.
    Heiberg, A
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Honda, M
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Miimura, M
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Sahlen, S
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Blennow, E
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Albertson, DG
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Pinkel, D
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    Dumanski, JP
    Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143 USA.
    High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH2001In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 10, no 3, p. 271-282Article in journal (Refereed)
    Abstract [en]

    Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

  • 2.
    Cox, DavidG
    et al.
    University of Lyon 1.
    Simard, Jacques
    Centre Hospital University of Quebec.
    Sinnett, Daniel
    St Justine University of Health Centre.
    Hamdi, Yosr
    Centre Hospital University of Quebec.
    Soucy, Penny
    Centre Hospital University of Quebec.
    Ouimet, Manon
    St Justine University of Health Centre.
    Barjhoux, Laure
    University of Lyon 1.
    Verny-Pierre, Carole
    University of Lyon 1.
    McGuffog, Lesley
    University of Cambridge.
    Healey, Sue
    Queensland Institute Medical Research.
    Szabo, Csilla
    University of Delaware.
    H Greene, Mark
    US National Cancer Institute.
    Mai, Phuong L
    US National Cancer Institute.
    Andrulis, Irene L
    University of Toronto.
    Thomassen, Mads
    Odense University Hospital.
    Gerdes, Anne-Marie
    Copenhagen University Hospital.
    Caligo, Maria A
    University Hospital Pisa.
    Friedman, Eitan
    Chaim Sheba Medical Centre.
    Laitman, Yael
    Chaim Sheba Medical Centre.
    Kaufman, Bella
    Chaim Sheba Medical Centre.
    S Paluch, Shani
    Tel Aviv University.
    Borg, Ake
    University of Lund Hospital.
    Karlsson, Per
    Sahlgrens University Hospital.
    Askmalm Stenmark, Marie
    Linköping University, Department of Clinical and Experimental Medicine, Oncology. Linköping University, Faculty of Health Sciences.
    Barbany Bustinza, Gisela
    Karolinska University Hospital.
    Nathanson, KatherineL
    University of Penn.
    Domchek, Susan M
    University of Penn.
    Rebbeck, Timothy R
    University of Penn.
    Benitez, Javier
    Spanish National Cancer Research Centre.
    Hamann, Ute
    Deutsch Krebsforschungszentrum.
    Rookus, Matti A
    Netherlands Cancer Institute.
    van den Ouweland, AnsM W
    Erasmus University.
    Ausems, Margreet G E M
    University of Medical Centre Utrecht.
    Aalfs, CoraM
    University of Amsterdam.
    van Asperen, Christi J
    Leiden University.
    Devilee, Peter
    Leiden University.
    Gille, Hans J J P
    Vrije University of Amsterdam Medical Centre.
    Peock, Susan
    University of Cambridge.
    Frost, Debra
    University of Cambridge.
    Evans, DGareth
    Central Manchester University Hospital NHS Fdn Trust.
    Eeles, Ros
    Institute Cancer Research, Surrey.
    Izatt, Louise
    Guys and St Thomas NHS Fdn Trust.
    Adlard, Julian
    Yorkshire Regional Genet Serv.
    Paterson, Joan
    Addenbrookes Hospital.
    Eason, Jacqueline
    Nottingham University Hospital NHS Trust.
    Godwin, Andrew K
    Fox Chase Cancer Centre.
    Remon, Marie-Alice
    Institute Curie.
    Moncoutier, Virginie
    Institute Curie.
    Gauthier-Villars, Marion
    Institute Curie.
    Lasset, Christine
    University of Lyon 1.
    Giraud, Sophie
    Centre Leon Berard.
    Hardouin, Agnes
    Centre Francois Baclesse.
    Berthet, Pascaline
    Centre Francois Baclesse.
    Sobol, Hagay
    University of Aix Marseille 2.
    Eisinger, Francois
    Institute Paoli Calmettes.
    Bressac de Paillerets, Brigitte
    Institute Cancerol Gustave Roussy.
    Caron, Olivier
    Institute Cancerol Gustave Roussy.
    Delnatte, Capucine
    Centre Rene Gauducheau.
    Goldgar, David
    University of Utah.
    Miron, Alex
    Dana Farber Cancer Institute.
    Ozcelik, Hilmi
    Mt Sinai Hospital.
    Buys, Saundra
    University of Utah.
    Southey, Melissa C
    University of Melbourne.
    Terry, MaryBeth
    Columbia University.
    Singer, ChristianF
    Medical University of Vienna.
    Dressler, Anne-Catharina
    Medical University of Vienna.
    Tea, Muy-Kheng
    Medical University of Vienna.
    Hansen, ThomasV O
    Copenhagen University Hospital.
    Johannsson, Oskar
    University of Iceland.
    Piedmonte, Marion
    Roswell Pk Cancer Institute.
    C Rodriguez, Gustavo
    University of Chicago.
    Basil, Jack B
    Good Samaritan Hospital.
    Blank, Stephanie
    NYU.
    Toland, Amanda E
    Ohio State University.
    Montagna, Marco
    Institute Oncology Veneto IOV IRCCS.
    Isaacs, Claudine
    Georgetown University.
    Blanco, Ignacio
    Catalan Institute Oncol.
    Gayther, Simon A
    University of So Calif.
    Moysich, KirstenB
    Roswell Pk Cancer Institute.
    Schmutzler, Rita K
    University Hospital Cologne.
    Wappenschmidt, Barbara
    University Hospital Cologne.
    Engel, Christoph
    University of Leipzig.
    Meindl, Alfons
    Technical University of Munich.
    Ditsch, Nina
    University of Munich.
    Arnold, Norbert
    University of Kiel.
    Niederacher, Dieter
    University of Dusseldorf.
    Sutter, Christian
    University of Heidelberg.
    Gadzicki, Dorothea
    Hannover Medical Sch.
    Fiebig, Britta
    University of Regensburg.
    Caldes, Trinidad
    Hospital Clin San Carlos.
    Laframboise, Rachel
    University of Laval.
    Nevanlinna, Heli
    Helsinki University Central Hospital.
    Chen, Xiaoqing
    Queensland Institute Medical Research.
    Beesley, Jonathan
    Queensland Institute Medical Research.
    Spurdle, Amanda B
    Queensland Institute Medical Research.
    Neuhausen, Susan L
    Beckman Research Institute City Hope.
    Ding, Yuan C
    Beckman Research Institute City Hope.
    Couch, FergusJ
    Mayo Clin.
    Wang, Xianshu
    Mayo Clin.
    Peterlongo, Paolo
    Fdn IRCCS Ist Nazl Tumori INT.
    Manoukian, Siranoush
    Fdn IRCCS Ist Nazl Tumori INT.
    Bernard, Loris
    Ist Europeo Oncology IEO.
    Radice, Paolo
    Fdn IRCCS Ist Nazl Tumori INT.
    Easton, Douglas F
    University of Cambridge.
    Chenevix-Trench, Georgia
    Queensland Institute Medical Research.
    Antoniou, Antonis C
    University of Cambridge.
    Stoppa-Lyonnet, Dominique
    Institute Curie.
    Mazoyer, Sylvie
    University of Lyon 1.
    Sinilnikova, Olga M
    University of Lyon 1.
    Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers2011In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 20, no 23, p. 4732-4747Article in journal (Refereed)
    Abstract [en]

    Mutations in the BRCA1 gene substantially increase a womans lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

  • 3.
    Dand, Nick
    et al.
    Kings Coll London, England.
    Mucha, Soeren
    Christian Albrechts University of Kiel, Germany.
    Tsoi, Lam C.
    University of Michigan, MI 48109 USA.
    Mahil, Satveer K.
    Kings Coll London, England.
    Stuart, Philip E.
    University of Michigan, MI USA.
    Arnold, Andreas
    University of Medical Greifswald, Germany.
    Baurecht, Hansjoerg
    University Hospital Schleswigholstein, Germany.
    David Burden, A.
    University of Glasgow, Scotland.
    Callis Duffin, Kristina
    University of Utah, UT USA.
    Chandran, Vinod
    University of Toronto, Canada; University of Health Network, Canada.
    Curtis, Charles J.
    NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England.
    Das, Sayantan
    University of Michigan, MI 48109 USA.
    Ellinghaus, David
    Christian Albrechts University of Kiel, Germany.
    Ellinghaus, Eva
    Christian Albrechts University of Kiel, Germany.
    Enerbäck, Charlotta
    Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Dermatology and Venerology.
    Esko, Tonu
    University of Tartu, Estonia.
    Gladman, Dafna D.
    University of Toronto, Canada; University of Health Network, Canada.
    Griffiths, Christopher E. M.
    University of Manchester, England.
    Gudjonsson, Johann E.
    University of Michigan, MI USA.
    Hoffman, Per
    University of Basel, Switzerland; University of Bonn, Germany.
    Homuth, Georg
    University of Med, Germany; Ernst Moritz Arndt University of Greifswald, Germany.
    Hueffmeier, Ulrike
    University Hospital Schleswigholstein, Germany; Friedrich Alexander University of Erlangen Nurnberg, Germany.
    Krueger, Gerald G.
    University of Utah, UT USA.
    Laudes, Matthias
    Christian Albrechts University of Kiel, Germany.
    Hyuck Lee, Sang
    NIHR, England; Maudsley NHS Fdn Trust, England; Kings Coll London, England; Kings Coll London, England.
    Lieb, Wolfgang
    Christian Albrechts University of Kiel, Germany.
    Lim, Henry W.
    Henry Ford Hospital, MI 48202 USA.
    Loehr, Sabine
    Friedrich Alexander University of Erlangen Nurnberg, Germany.
    Mrowietz, Ulrich
    Department of Dermatology, Venereology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
    Mueller-Nurayid, Martina
    Helmholtz Zentrum Munich, Germany.
    Noethen, Markus
    University of Bonn, Germany.
    Peters, Annette
    Helmholtz Zentrum Munich, Germany.
    Rahman, Proton
    Mem University of Newfoundland, Canada.
    Reis, Andre
    Friedrich Alexander University of Erlangen Nurnberg, Germany.
    Reynolds, Nick J.
    Newcastle University, England; Newcastle Hospital NHS Fdn Trust, England.
    Rodriguez, Elke
    University Hospital Schleswigholstein, Germany.
    Schmidt, Carsten O.
    University of Medical Greifswald, Germany.
    Spain, Sarah L.
    Kings Coll London, England.
    Strauch, Konstantin
    Helmholtz Zentrum Munich, Germany.
    Tejasvi, Trilokraj
    University of Michigan, MI USA.
    Voorhees, John J.
    University of Michigan, MI USA.
    Warren, Richard B.
    University of Manchester, England.
    Weichenthal, Michael
    University of Medical Centre Schleswig Holstein, Germany.
    Weidinger, Stephan
    University Hospital Schleswigholstein, Germany.
    Zawistowski, Matthew
    University of Michigan, MI 48109 USA.
    Nair, Rajan P.
    University of Michigan, MI USA.
    Capon, Francesca
    Kings Coll London, England.
    Smith, Catherine H.
    Kings Coll London, England.
    Trembath, Richard C.
    Kings Coll London, England.
    Abecasis, Goncalo R.
    University of Michigan, MI 48109 USA.
    Elder, James T.
    University of Michigan, MI USA; Ann Arbor Vet Hospital, MI USA.
    Franke, Andre
    Christian Albrechts University of Kiel, Germany.
    Simpson, Michael A.
    Kings Coll London, England.
    Barker, Jonathan N.
    Kings Coll London, England.
    Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling2017In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 26, no 21, p. 4301-4313Article in journal (Refereed)
    Abstract [en]

    Psoriasis is a common inflammatory skin disorder for which multiple genetic susceptibility loci have been identified, but few resolved to specific functional variants. In this study, we sought to identify common and rare psoriasis-associated gene-centric variation. Using exome arrays we genotyped four independent cohorts, totalling 11 861 psoriasis cases and 28 610 controls, aggregating the dataset through statistical meta-analysis. Single variant analysis detected a previously unreported risk locus at TNFSF15 (rs6478108; P = 1.50 x 10(-8), OR = 1.10), and association of common protein-altering variants at 11 loci previously implicated in psoriasis susceptibility. We validate previous reports of protective low-frequency protein-altering variants within IFIH1 (encoding an innate antiviral receptor) and TYK2 (encoding a Janus kinase), in each case establishing a further series of protective rare variants (minor allele frequency amp;lt; 0.01) via gene-wide aggregation testing (IFIH1: p(burden) = 2.53 x 10(-7), OR = 0.707; TYK2: p(burden) = 6.17 x 10(-4), OR = 0.744). Both genes play significant roles in type I interferon (IFN) production and signalling. Several of the protective rare and low-frequency variants in IFIH1 and TYK2 disrupt conserved protein domains, highlighting potential mechanisms through which their effect may be exerted.

  • 4.
    Davidsson, Josef
    et al.
    Lund University Hospital.
    Andersson, Anna
    Lund University Hospital.
    Paulsson, Kajsa
    Lund University Hospital.
    Heidenblad, Markus
    Lund University Hospital.
    Isaksson, Margareth
    Lund University Hospital.
    Borg, Ake
    Lund University Hospital.
    Heldrup, Jesper
    Lund University Hospital.
    Behrendtz, Mikael
    Östergötlands Läns Landsting, Centre of Paediatrics and Gynecology and Obstetrics, Department of Paediatrics in Linköping.
    Panagopoulos, Ioannis
    Lund University Hospital.
    Fioretos, Thoas
    Lund University Hospital.
    Johansson, Bertil
    Lund University Hospital.
    Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.32007In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 16, no 18, p. 2215-2225Article in journal (Refereed)
    Abstract [en]

    Although gain of 1q occurs in 25% of Burkitt lymphomas (BLs) and 10% of pediatric high hyperdiploid acute lymphoblastic leukemias (ALLs), little is known about the origin, molecular genetic characteristics and functional outcome of dup(1q) in these disorders. Ten dup(1q)-positive BLs/ALLs were investigated by tiling resolution (32k) array CGH analysis, which revealed that the proximal breakpoints in all cases were near-centromeric, in eight of them clustering within a 1.4 Mb segment in 1q12-21.1. The 1q distal breakpoints were heterogeneous, being more distal in the ALLs than in the BLs. The minimally gained segments in the ALLs and BLs were 57.4 Mb [dup(1)(q22q32.3)] and 35 Mb [dup(1)(q12q25.2)], respectively. Satellite 11 DNA on 1q was not hypomethylated, as ascertained by Southern blot analyses of 15 BLs/ALLs with and without gain of 1q, indicating that aberrant methylation was not involved in the origin of dup(1q), as previously suggested for other neoplasms with 1q rearrangements. Global gene expression analyses revealed that five genes in the minimally 57.4 Mb gained region-B4GALT3, DAP3, RGS16, TMEM183A and UCK2-were significantly overexpressed in dup(1q)-positive ALLs compared with high hyperdiploid ALLs without dup(1q). The DAP3 and UCK2 genes were among the most overexpressed genes in the BL case with gain of 1q investigated. The DAP3 protein has been reported to be highly expressed in invasive glioblastoma multiforme cells, whereas expression of the UCK2 protein has been correlated with sensitivity to anticancer drugs. However, involvement of these genes in dup(1q)-positive ALLs and BLs has previously not been reported.

  • 5.
    Kottyan, Leah C.
    et al.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA .
    Zoller, Erin E.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology.
    Bene, Jessica
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology.
    Lu, Xiaoming
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology .
    Kelly, Jennifer A.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Rupert, Andrew M.
    Division of Biomedical Informatics, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA..
    Lessard, Christopher J.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Pathology .
    Vaughn, Samuel E.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology.
    Marion, Miranda
    Department of Biostatistical Sciences and Center for Public Health Genomics .
    Weirauch, Matthew T.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA Division of Biomedical Informatics, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA..
    Namjou, Bahram
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology .
    Adler, Adam
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Rasmussen, Astrid
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Glenn, Stuart
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Montgomery, Courtney G.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Hirschfield, Gideon M.
    NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK..
    Xie, Gang
    Mount Sinai Hospital Samuel Lunenfeld Research Institute, Toronto, ON, Canada..
    Coltescu, Catalina
    Liver Centre, Toronto Western Hospital, Toronto, ON, Canada..
    Amos, Chris
    Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA..
    Li, He
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Pathology and..
    Ice, John A.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Nath, Swapan K.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Mariette, Xavier
    Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, INSERM U1012, Le Kremlin Bicêtre, France..
    Bowman, Simon
    Rheumatology Department, University Hospital Birmingham, Birmingham, UK..
    Rischmueller, Maureen
    The Queen Elizabeth Hospital, Adelaide, Australia..
    Lester, Sue
    The Queen Elizabeth Hospital, Adelaide, Australia The University of Adelaide, Adelaide, Australia..
    Brun, Johan G.
    Institute of Internal Medicine, University of Bergen, Bergen, Norway Department of Rheumatology, Haukeland University Hospital, Bergen, Norway..
    Gøransson, Lasse G.
    Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway..
    Harboe, Erna
    Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway..
    Omdal, Roald
    Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway..
    Cunninghame-Graham, Deborah S.
    Department of Medical and Molecular Genetics, Kings College London, London, UK..
    Vyse, Tim
    Department of Medical and Molecular Genetics, Kings College London, London, UK..
    Miceli-Richard, Corinne
    Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, INSERM U1012, Le Kremlin Bicêtre, France..
    Brennan, Michael T.
    Department of Oral Medicine, Carolinas Medical Center, Charlotte, NC, USA..
    Lessard, James A.
    Valley Bone and Joint Clinic, Grand Forks, ND, USA..
    Wahren-Herlenius, Marie
    Department of Medicine, Karolinska Institute, Stockholm, Sweden..
    Kvarnström, Marika
    Department of Medicine, Karolinska Institute, Stockholm, Sweden..
    Illei, Gabor G.
    National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, USA..
    Witte, Torsten
    Hannover Medical School, Hanover, Germany..
    Jonsson, Roland
    Department of Rheumatology, Haukeland University Hospital, Bergen, Norway Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway..
    Eriksson, Per
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Rheumatology.
    Nordmark, Gunnel
    Department of Medical Sciences, Rheumatology, Uppsala University, Uppsala, Sweden..
    Ng, Wan-Fai
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK..
    Anaya, Juan-Manuel
    Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia..
    Rhodus, Nelson N.
    Department of Oral Surgery, University of Minnesota School of Dentistry, Minneapolis, MN, USA..
    Segal, Barbara M.
    Division of Rheumatology, University of Minnesota Medical School, Minneapolis, MN, USA..
    Merrill, Joan T.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    James, Judith A.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA..
    Guthridge, Joel M.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Hal Scofield, R
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Division of Veterans Affairs Medical Center, Oklahoma City, OK, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA..
    Alarcon-Riquelme, Marta
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucia, Granada, Spain..
    Bae, Sang-Cheol
    Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea..
    Boackle, Susan A.
    Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, USA..
    Criswell, Lindsey A.
    Division of Rheumatology, Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, San Francisco, CA, USA..
    Gilkeson, Gary
    Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, USA..
    Kamen, Diane L
    Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, USA..
    Jacob, Chaim O.
    Divison of Gastrointestinal and Liver Diseases, Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA..
    Kimberly, Robert
    Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA..
    Brown, Elizabeth
    Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA..
    Edberg, Jeffrey
    Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA..
    Alarcón, Graciela S.
    Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA..
    Reveille, John D.
    Division of Rheumatology and Clinical Immunogenetics, The Univeristy of Texas Health Science Center at Houston, Houston, TX, USA..
    Vilá, Luis M.
    University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, USA..
    Petri, Michelle
    Division of Rheumatology, Johns Hopkins, Baltimore, MD, USA..
    Ramsey-Goldman, Rosalind
    Division of Rheumatology, Northwestern University, Chicago, IL, USA..
    Freedman, Barry I.
    Wake Forest School of Medicine, Winston-Salem, NC, USA..
    Niewold, Timothy
    Division of Rheumatology and Immunology, Mayo Clinic, Rochester, MN, USA..
    Stevens, Anne M.
    University of Washington and Seattle Childrens Hospital, Seattle, WA, USA..
    Tsao, Betty P.
    David Geffen School of Medicine, University of California, Los Angeles, CA, USA..
    Ying, Jun
    MD Anderson Cancer Center, University of Texas, Houston, TX, USA..
    Mayes, Maureen D.
    MD Anderson Cancer Center, University of Texas, Houston, TX, USA..
    Gorlova, Olga Y.
    MD Anderson Cancer Center, University of Texas, Houston, TX, USA..
    Wakeland, Ward
    University of Texas Southwestern Medical School, Dallas, TX, USA..
    Radstake, Timothy
    Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands..
    Martin, Ezequiel
    Instituto de Parasitología y Biomedicina López Neyra Avda, Granada, Spain and..
    Martin, Javier
    Instituto de Parasitología y Biomedicina López Neyra Avda, Granada, Spain and..
    Siminovitch, Katherine
    Mount Sinai Hospital Samuel Lunenfeld Research Institute, Toronto, ON, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada..
    Moser Sivils, Kathy L.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Gaffney, Patrick M.
    Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA..
    Langefeld, Carl D.
    Department of Biostatistical Sciences and Center for Public Health Genomics and..
    Harley, John B.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA..
    Kaufman, Kenneth M.
    Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA..
    The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.2015In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 24, no 2, p. 582-596Article in journal (Refereed)
    Abstract [en]

    Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögrens syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.

  • 6.
    Lilljebjorn, Henrik
    et al.
    Skåne University Hospital.
    Soneson, Charlotte
    Lund University.
    Andersson, Anna
    Skåne University Hospital.
    Heldrup, Jesper
    Lund University.
    Behrendtz, Mikael
    Östergötlands Läns Landsting, Centre of Paediatrics and Gynecology and Obstetrics, Department of Paediatrics in Linköping.
    Kawamata, Norihiko
    University of California Los Angeles.
    Ogawa, Seishi
    University of Tokyo.
    Koeffler, H. Phillip
    University of California Los Angeles.
    Mitelman, Felix
    Skåne University Hospital.
    Johansson, Bertil
    Skåne University Hospital.
    Fontes, Magnus
    Lund University.
    Fioretos, Thoas
    Skåne University Hospital.
    The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias2010In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 19, no 16, p. 3150-3158Article in journal (Refereed)
    Abstract [en]

    The ETV6/RUNX1 fusion gene, present in 25% of B-lineage childhood acute lymphoblastic leukemia (ALL), is thought to represent an initiating event, which requires additional genetic changes for leukemia development. To identify additional genetic alterations, 24 ETV6/RUNX1-positive ALLs were analyzed using 500K single nucleotide polymorphism arrays. The results were combined with previously published data sets, allowing us to ascertain genomic copy number aberrations (CNAs) in 164 cases. In total, 45 recurrent CNAs were identified with an average number of 3.5 recurrent changes per case (range 0-13). Twenty-six percent of cases displayed a set of recurrent CNAs identical to that of other cases in the data set. The majority (74%), however, displayed a unique pattern of recurrent CNAs, indicating a large heterogeneity within this ALL subtype. As previously demonstrated, alterations targeting genes involved in B-cell development were common (present in 28% of cases). However, the combined analysis also identified alterations affecting nuclear hormone response (24%) to be a characteristic feature of ETV6/RUNX1-positive ALL. Studying the correlation pattern of the CNAs allowed us to highlight significant positive and negative correlations between specific aberrations. Furthermore, oncogenetic tree models identified ETV6, CDKN2A/B, PAX5, del(6q) and +16 as possible early events in the leukemogenic process.

  • 7.
    Panagopoulos, Ioannis
    et al.
    Dept of Clin Genetics Lund.
    Fioretos, Thoas
    Dept of Clin Genetics, Lund.
    Isaksson, Margareth
    Dept of Clin Genetics, Lund.
    Samuelsson, Ulf
    Linköping University, Faculty of Health Sciences. Linköping University, Department of Molecular and Clinical Medicine, Pediatrics. Östergötlands Läns Landsting, Centre of Paediatrics and Gynecology and Obstetrics, Department of Paediatrics in Linköping.
    Billström, Rolf
    Dept of Internal Medicine Lund.
    Strömbeck, Bodil
    Dept of Clinical Genetics, Lund.
    Mitelman, Felix
    Dept of Clin Genetics Lund.
    Johansson, Bertil
    Dept of Clin Genetics, Lund.
    Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10,16)(q22,p13)2001In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 10, no 4, p. 395-404Article in journal (Refereed)
    Abstract [en]

    The CBP gene at 16p 13 fuses to MOZ and MLL as a result of the t(8,16)(p11,p13) in acute (myelo)monocytic leukemias (AML M4/M5) and the t(11,16)(q23,p13) in treatment-related AML, respectively. We show here that a novel t(10,16)(q22,p13) in a childhood AML M5a leads to a MORF-CBP chimera. RT-PCR using MORF forward and CBP reverse primers amplified a MORF-CBP fusion in which nucleotide 3103 of MORF was fused in-frame with nucleotide 284 of CBP. Nested RT-PCR with CBP forward and MORF reverse primers generated a CBP-MORF transcript in which nucleotide 283 of CBP was fused in-frame with nucleotide 3104 of MORF. Genomic analyses revealed that the breaks were close to Alu elements in intron 16 of MORF and intron 2 of CBP and that duplications had occurred near the breakpoints. A database search using MORF cDNA enabled us to construct an exon-intron map of the MORF gene. The MORF-CBP protein retains the zinc fingers, two nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MORF and the CBP protein downstream of codon 29. Thus, the part of CBP encoding the RARA-binding domain, the CREB-binding domain, the three Cys/His-rich regions, the bromodomain, the HAT domain and the Glu-rich domains is present. In the reciprocal CBP-MORF, part of the acidic domain and the C-terminal Ser- and Met-rich regions of MORF are likely to be driven by the CBP promoter. Since both fusion transcripts were present, their exact role in the leukemogenic process remains to be elucidated.

  • 8. Storlazzi, Clelia T
    et al.
    Fioretos, Thoas
    Paulsson, Kajsa
    Strömbeck, Bodil
    Lassen, Carin
    Ahlgren, Tomas
    Juliusson, Gunnar
    Linköping University, Faculty of Health Sciences. Linköping University, Department of Biomedicine and Surgery, Oncology. Östergötlands Läns Landsting, Centre of Surgery and Oncology, Department of Haematology UHL.
    Mitelman, Felix
    Rocchi, Mariano
    Johansson, Bertil
    Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies2004In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 13, no 14, p. 1479-1485Article in journal (Refereed)
    Abstract [en]

    Double minutes (dmin), the cytogenetic hallmark of genomic amplification, are found in ∼1% of karyotypically abnormal acute myelold leukemias (AML) and myelodysplastic syndromes (MDS). The MYC gene at 8q24 has been reported to be amplified in the majority of the cases, and generally it has been assumed that MYC is the target gene. However, only a few studies have focused on the extent of the amplicon or on the expression patterns of the amplified genes. We have studied six cases (five AML and one MDS) with MYC-containing dmin. Detailed fluorescence in situ hybridization analyses identified a common 4.3 Mb amplicon, with clustered proximal and distal breakpoints, harboring eight known genes (C8FW, NSE2, POU5FLC20, MYC, PVT1, AK093424, MGC27434 and MLZE). The corresponding region was deleted in one of the chromosome 8 homologues in five of the six cases, suggesting that the dmin originated through extra replication (or loop-formation)-excision-amplification. Northern blot analysis revealed that MYC was not overexpressed. Instead, the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, displayed increased expression. These results exclude MYC as the target gene and indicate that overexpression of C8FW may be the functionally important consequence of 8q24 amplicons in AML and MDS. © Oxford University Press 2004, all rights reserved.

  • 9.
    Synofzik, M.
    et al.
    Department of Neurodegenerative Diseases, University of Tübingen, Germany.
    Ronchi, D.
    Dino Ferrari Center, Department of Neurological Sciences, University of Milan, Italy.
    Keskin, I.
    Institute of Pharmacology and Clinical Neuroscience, Umeå University.
    Basak, A.N.
    Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey.
    Wilhelm, C.
    CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
    Gobbi, C.
    Neurocenter of Southern Switzerland, Ospedale Regionale, Lugano Switzerland.
    Birve, A.
    Institute of Pharmacology and Clinical Neuroscience, Umeå University.
    Biskup, S.
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Germany.
    Zecca, C.
    Neurocenter of Southern Switzerland, Ospedale Regionale, Lugano, Switzerland.
    Fernandez-Santiago, R.
    Fernández-Santiago, R., Department of Neurodegenerative Diseases,Tübingen, Germany.
    Kaugesaar, Toomas
    Östergötlands Läns Landsting, Local Health Care Services in East Östergötland, Department of Internal Medicine in Norrköping.
    Schols, L.
    Schöls, L., German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
    Marklund, S.L.
    Department of Medical Biosciences, Umeå University.
    Andersen, P.M.
    Institute of Pharmacology and Clinical Neuroscience, Umeå University.
    Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS2012In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 21, no 16, p. 3568-3574Article in journal (Refereed)
    Abstract [en]

    A reason for screening amyotrophic lateral sclerosis (ALS) patients for mutations in the superoxide dismutase-1 (SOD1) gene is the opportunity to find novel mutations with properties that can give information on pathogenesis. A novel c.352Cgreater thanG (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe. The disease showed unusually low penetrance and slow progression. In erythrocytes, the total SOD1 activity, as well as specific activity of the mutant protein, was equal in carriers of the mutation and family controls lacking SOD1 mutations. The structural stabilities of the L117V mutant and wild-type SOD1 under denaturing conditions were likewise equal, but considerably lower than that of murine SOD1. As analyzed with an ELISA specific for misfolded SOD1 species, no differences were found in the content of misfolded SOD1 protein between extracts of fibroblasts from wild-type controls and from an L117V patient. In contrast, elevated levels of misfolded SOD1 protein were found in fibroblasts from ALS patients carrying seven other mutations in the SOD1 gene. We conclude that mutations in SOD1 that result in a fully stable protein are associated with low disease penetrance for ALS and may be found in cases of apparently sporadic ALS. Wild-type human SOD1 is moderately stable, and was found here to be within the stability range of ALS-causing SOD1 variants, lending support to the hypothesis that wild-type SOD1 could be more generally involved in ALS pathogenesis.

  • 10.
    Van Laer, Lut
    et al.
    University of Antwerp, Belgium .
    Van Eyken, Els
    University of Antwerp, Belgium .
    Fransen, Erik
    University of Antwerp, Belgium .
    Huyghe, Jeroen
    University of Antwerp, Belgium .
    Topsakal, Vedat
    University Hospital of Antwerp, Belgium .
    Hendrickx, Jan-Jaap
    Hannula, Samuli
    University of Oulu, Finland.
    Mäki-Torkko, Elina
    Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Reconstruction Centre, Department of ENT - Head and Neck Surgery UHL. University of Oulu, Finland.
    Jensen, Mona
    Bispebjerg Hospital, Copenhagen, Denmark .
    Demeester, Kelly
    University Hospital of Antwerp, Belgium.
    Baur, Manuela
    University of Tuebingen, Germany .
    Bonaconsa, Amanda
    University Hospital Padova, Italy.
    Mazzoli, Manuela
    University Hospital Padova, Italy.
    Espeso, Angeles
    Cardiff University, UK .
    Verbruggen, Katia
    University Hospital of Gent, Belgium .
    Huyghe, Joke
    University Hospital of Gent, Belgium .
    Huygen, Patrick
    Radboud University Nijmegen Medical Centre, The Netherlands .
    Kunst, Sylvia
    Radboud University Nijmegen Medical Centre, The Netherlands .
    Manninen, Minna
    University of Tampere, Finland.
    Konings, Annelies
    University of Antwerp, Belgium .
    Diaz-Lacava, Amalia
    University of Bonn, Germany .
    Steffens, Michael
    University of Bonn, Germany .
    Wienker, Thomas
    University of Bonn, Germany .
    Pyykkö, Ilmari
    University of Tampere, Finland.
    Cremers, Cor
    Radboud University Nijmegen Medical Centre, The Netherlands .
    Kremer, Hannie
    Radboud University Nijmegen Medical Centre, The Netherlands .
    Dhooge, Ingeborg
    University Hospital of Gent, Belgium .
    Stephens, Dafydd
    Cardiff University, UK .
    Orzan, Eva
    University Hospital Padova, Italy.
    Pfister, Markus
    University of Tuebingen, Germany .
    Bille, Mikael
    Bispebjerg Hospital, Copenhagen, Denmark.
    Parving, Agnete
    Bispebjerg Hospital, Copenhagen, Denmark.
    Sorri, Martti
    University of Oulu, Finland.
    Van de Heyning, Paul
    University Hospital of Antwerp, Belgium .
    Van Camp, Guy
    University of Antwerp, Belgium .
    The grainyhead like 2 gene (GRHL2), alias TFCP2L3,is associated with age-related hearing impairment2008In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 17, no 2, p. 159-169Article in journal (Refereed)
    Abstract [en]

    Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.

  • 11.
    Welander, Jenny
    et al.
    Linköping University, Department of Clinical and Experimental Medicine, Cell Biology. Linköping University, Faculty of Health Sciences.
    Larsson, Catharina
    Karolinska Institutet, Stockholm, Sweden .
    Backdahl, Martin
    Karolinska Institutet, Stockholm, Sweden .
    Niyaz, Niyaz
    Linköping University, Department of Clinical and Experimental Medicine, Clinical Chemistry. Linköping University, Faculty of Health Sciences.
    Sivlér, Tobias
    Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences.
    Brauckhoff, Michael
    Haukeland University Hospital, Bergen, Norway .
    Söderkvist, Peter
    Linköping University, Department of Clinical and Experimental Medicine, Cell Biology. Linköping University, Faculty of Health Sciences.
    Gimm, Oliver
    Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Centre for Surgery, Orthopaedics and Cancer Treatment, Department of Surgery in Östergötland.
    Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas2012In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 21, no 26, p. 5406-5416Article in journal (Refereed)
    Abstract [en]

    Pheochromocytomas are neuroendocrine tumors of the adrenal medulla which can occur either sporadically or in the context of hereditary tumor syndromes. Whereas the genetic background of hereditary pheochromocytomas is becoming rather well-defined, very little is known about the more common sporadic form of the disease which constitutes approximate to 70 of all cases. In this study, we elucidate some of the molecular mechanisms behind sporadic pheochromocytoma by performing a comprehensive analysis of copy number alterations, gene expression, promoter methylation and somatic mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, KIF1B, TMEM127 and MAX, which have been associated with hereditary pheochromocytoma or paraganglioma. Our genomic and genetic analyses of 42 sporadic pheochromocytomas reveal that a large proportion (83) has an altered copy number in at least one of the known susceptibility genes, often in association with an altered messenger RNA (mRNA) expression. Specifically, 11 sporadic tumors (26) displayed a loss of one allele of the NF1 gene, which significantly correlated with a reduced NF1 mRNA expression. Subsequent sequencing of NF1 mRNA, followed by confirmation in the corresponding genomic DNA (gDNA), revealed somatic truncating mutations in 10 of the 11 tumors with NF1 loss. Our results thus suggest that the NF1 gene constitutes the most frequent (24) target of somatic mutations so far known in sporadic pheochromocytomas.

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