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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
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.
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.
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.
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2001 (English)In: Human Molecular Genetics, ISSN 0964-6906, Vol. 10, no 3, 271-282 p.Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
2001. Vol. 10, no 3, 271-282 p.
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Medical and Health Sciences
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URN: urn:nbn:se:liu:diva-49394OAI: oai:DiVA.org:liu-49394DiVA: diva2:270290
Available from: 2009-10-11 Created: 2009-10-11 Last updated: 2011-01-13

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Harder, Henrik

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Faculty of Health SciencesOto-Rhiono-Laryngology and Head & Neck Surgery Department of ENT - Head and Neck Surgery UHL
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