Literature DB >> 118780

Penetrance and variability in neurofibromatosis: a genetic study of 60 families.

J C Carey, J M Laub, B D Hall.   

Abstract

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Year:  1979        PMID： 118780

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  17 in total

Review 1.  Understanding intellectual disability through RASopathies.

Authors:  Alvaro San Martín; Mario Rafael Pagani
Journal:  J Physiol Paris       Date:  2014-05-21

2.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

Authors:  S M Huson; D A Compston; P Clark; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  Growth in North American white children with neurofibromatosis 1 (NF1).

Authors:  J Szudek; P Birch; J M Friedman
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

4.  A clinical study of type 1 neurofibromatosis in north west England.

Authors:  J M McGaughran; D I Harris; D Donnai; D Teare; R MacLeod; R Westerbeek; H Kingston; M Super; R Harris; D G Evans
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

5.  Linkage studies in peripheral neurofibromatosis.

Authors:  M A Pericak-Vance; L H Yamaoka; J M Vance; A S Aylsworth; G O Rossenwasser; P C Gaskell; M J Alberts; W Y Hung; C Haynes; A D Roses
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 6.  A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

Authors:  S M Huson; D A Compston; P S Harper
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

7.  An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Authors:  D F Easton; M A Ponder; S M Huson; B A Ponder
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

8.  Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Authors:  M A Spence; J L Bader; D M Parry; L L Field; S J Funderburk; A E Rubenstein; P A Gilman; R S Sparkes
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

Review 9.  Neurofibromatosis type 1.

Authors:  Kevin P Boyd; Bruce R Korf; Amy Theos
Journal:  J Am Acad Dermatol       Date:  2009-07       Impact factor: 11.527

10.  Neurofibromatosis type 1 in Israel: survey of young adults.

Authors:  B Z Garty; A Laor; Y L Danon
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318
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