Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Autore:
Bruder, CEG; Hirvela, C; Tapia-Paez, I; Fransson, I; Segraves, R; Hamilton, G; Zhang, XX; Evans, DG; Wallace, AJ; Baser, ME; Zucman-Rossi, J; Hergersberg, M; Boltshauser, E; Papi, L; Rouleau, GA; Poptodorov, G; Jordanova, A; Rask-Andersen, H; Kluwe, L; Mautner, V; Sainio, M; Hung, G; Mathiesen, T; Moller, C; Pulst, SM; Harder, H; Heiberg, A; Honda, M; Miimura, M; Sahlen, S; Blennow, E; Albertson, DG; Pinkel, D; Dumanski, JP;
Indirizzi:
Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden SE-75185 thol, SE-75185 Uppsala, Sweden Karolinska Hosp, Dept Mol Med, SE-17176 Stockholm, Sweden Karolinska HospStockholm Sweden SE-17176 ed, SE-17176 Stockholm, Sweden Univ Uppsala Hosp, Dept Otorhinolaryngol & Head & Neck Surg, SE-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden SE-75185 Surg, SE-75185 Uppsala, Sweden Univ Calif San Francisco, Dept Lab Med, Ctr Canc, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England St MarysHosp Manchester Lancs England M13 0JH er M13 0JH, Lancs, England INSERM, U434, Lab Genet Tumeurs, F-75010 Paris, France INSERM Paris France F-75010 34, Lab Genet Tumeurs, F-75010 Paris, France Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8001 enet, CH-8001 Zurich, Switzerland Univ Zurich, Childrens Hosp, Div Pediat Neurol, CH-8032 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8032 urol, CH-8032 Zurich, Switzerland Univ Florence, Dept Physiopathol, Med Genet Unit, I-500139 Florence, ItalyUniv Florence Florence Italy I-500139 net Unit, I-500139 Florence, Italy Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada MontrealGen Hosp Montreal PQ Canada H3G 1A4 Montreal, PQ H3G 1A4, Canada Univ Hosp Queen Giovanna, Dept Neurosurg, BG-1527 Sofia, Bulgaria Univ Hosp Queen Giovanna Sofia Bulgaria BG-1527 BG-1527 Sofia, Bulgaria Lab Mol Pathol, BG-1431 Sofia, Bulgaria Lab Mol Pathol Sofia Bulgaria BG-1431 ol Pathol, BG-1431 Sofia, Bulgaria Klinikum Nord Ochsenzoll, Dept Neurol, D-22419 Hamburg, Germany Klinikum Nord Ochsenzoll Hamburg Germany D-22419 -22419 Hamburg, Germany Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland Univ Helsinki Helsinki Finland FIN-00014 ol, FIN-00014 Helsinki, Finland House Ear Inst, Los Angeles, CA 90057 USA House Ear Inst Los Angeles CA USA 90057 r Inst, Los Angeles, CA 90057 USA Karolinska Hosp, Dept Neurosurg, SE-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden SE-17176 rg, SE-17176 Stockholm, Sweden Sahlgrens Univ Hosp, Dept Audiol, SE-41335 Gothenburg, Sweden Sahlgrens Univ Hosp Gothenburg Sweden SE-41335 -41335 Gothenburg, Sweden Cedars Sinai Med Ctr, Div Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr Los Angeles CA USA 90048 , Los Angeles, CA 90048 USA Linkoping Univ Hosp, Dept Otorhinolaryngol, SE-58185 Linkoping, Sweden Linkoping Univ Hosp Linkoping Sweden SE-58185 SE-58185 Linkoping, Sweden Univ Oslo, Rikshosp, Dept Med Genet, N-0027 Oslo, Norway Univ Oslo Oslo Norway N-0027 kshosp, Dept Med Genet, N-0027 Oslo, Norway Jikei Univ, Sch Med, Dept Dermatol, Minato Ku, Tokyo 1058461, Japan Jikei Univ Tokyo Japan 1058461 Dermatol, Minato Ku, Tokyo 1058461, Japan Univ Calif San Francisco, Ctr Canc, Inst Canc Res, San Francisco, CA 94143USA Univ Calif San Francisco San Francisco CA USA 94143 rancisco, CA 94143USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 3, volume: 10, anno: 2001,
pagine: 271 - 282
SICI:
0964-6906(20010201)10:3<271:HRDAOC>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMPARATIVE GENOMIC HYBRIDIZATION; GERM-LINE MUTATIONS; MISSENSE MUTATION; UNITED-KINGDOM; GENE; DISEASE; PHENOTYPES; CANDIDATE; SEVERITY; CHROMOSOME-22;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Dumanski, JP Univ Uppsala Hosp, Rudbeck Lab, Dept Genet & Pathol, SE-75185Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden SE-75185 5 Uppsala, Sweden
Citazione:
C.E.G. Bruder et al., "High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH", HUM MOL GEN, 10(3), 2001, pp. 271-282

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinicalheterogeneity 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 affectingthe 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 12:13:54