Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

被引：23

作者：

Evans, D. G. ^{[1
]}

Bowers, N. ^{[1
]}

Huson, S. M. ^{[2
]}

Wallace, A. ^{[1
]}

机构：

[1] CMFT Hosp Trust, Manchester, Lancs, England

[2] St Marys Hosp, MAHSC, Manchester M13 0JH, Lancs, England

来源：

CLINICAL GENETICS | 2013年 / 83卷 / 06期

关键词：

NEUROFIBROMATOSIS;

D O I：

10.1111/cge.12007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：594 / 595

页数：2

共 7 条

[1] Predictors of the risk of mortality in neurofibromatosis 2 [J].

Baser, ME ;

Friedman, JM ;

Aeschliman, D ;

Joe, H ;

Wallace, AJ ;

Ramsden, RT ;

Evans, DGR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :715-723

[2] A GENETIC-STUDY OF TYPE-2 NEUROFIBROMATOSIS IN THE UNITED-KINGDOM .1. PREVALENCE, MUTATION-RATE, FITNESS, AND CONFIRMATION OF MATERNAL TRANSMISSION EFFECT ON SEVERITY [J].

EVANS, DGR ;

HUSON, SM ;

DONNAI, D ;

NEARY, W ;

BLAIR, V ;

TEARE, D ;

NEWTON, V ;

STRACHAN, T ;

RAMSDEN, R ;

HARRIS, R .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (12) :841-846

[3] Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations [J].

Evans, DGR ;

Trueman, L ;

Wallace, A ;

Collins, S ;

Strachan, T .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) :450-455

[4]

EVANS DGR, 1992, Q J MED, V84, P603

[5] Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification [J].

Evans, Gareth R. ;

Ramsden, R. T. ;

Shenton, A. ;

Gokhale, C. ;

Bowers, N. L. ;

Huson, S. M. ;

Pichert, G. ;

Wallace, A. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (07) :424-428

[6] Further genotype - phenotype correlations in neurofibromatosis 2 [J].

Selvanathan, S. K. ;

Shenton, A. ;

Ferner, R. ;

Wallace, A. J. ;

Huson, S. M. ;

Ramsden, R. T. ;

Evans, D. G. .

CLINICAL GENETICS, 2010, 77 (02) :163-170

[7] Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset [J].

Smith, Miriam J. ;

Higgs, Jenny E. ;

Bowers, Naomi L. ;

Halliday, Dorothy ;

Paterson, Joan ;

Gillespie, James ;

Huson, Susan M. ;

Freeman, Simon R. ;

Lloyd, Simon ;

Rutherford, Scott A. ;

King, Andrew T. ;

Wallace, Andrew J. ;

Ramsden, Richard T. ;

Evans, D. Gareth R. .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (04) :261-265

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