Literature DB >> 118781

Neurofibromatosis: variable expression is not intrinsic to the mutant gene.

V M Riccardi, B Kleiner, M L Lubs.   

Abstract

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Year:  1979        PMID： 118781

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


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  5 in total

1.  Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

Authors:  S M Huson; A L Meredith; M Sarfarazi; D J Shaw; D A Compston; P S Harper
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

2.  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

3.  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

4.  Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Authors:  Audrey Sabbagh; Eric Pasmant; Ingrid Laurendeau; Béatrice Parfait; Sébastien Barbarot; Bernard Guillot; Patrick Combemale; Salah Ferkal; Michel Vidaud; Patrick Aubourg; Dominique Vidaud; Pierre Wolkenstein
Journal:  Hum Mol Genet       Date:  2009-05-05       Impact factor: 6.150

5.  The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation.

Authors:  V M Riccardi; V A Maragos
Journal:  In Vitro       Date:  1980-08
  5 in total

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