Literature DB >> 22159552

Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

Yunus Kasim Terzi1, Burcu Sirin, Guzen Hosgor, Esra Serdaroglu, Banu Anlar, Sabiha Aysun, Sukriye Ayter.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 22159552     DOI： 10.1007/s00381-011-1648-x

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


× No keyword cloud information.
  21 in total

1.  Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I.

Authors:  P J Ainsworth; D I Rodenhiser
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

Authors:  D Jadayel; P Fain; M Upadhyaya; M A Ponder; S M Huson; J Carey; A Fryer; C G Mathew; D F Barker; B A Ponder
Journal:  Nature       Date:  1990-02-08       Impact factor: 49.962

3.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

4.  A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

Authors:  D I Rodenhiser; P J Ainsworth; M B Coulter-Mackie; S M Singh; J H Jung
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

5.  A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.

Authors:  C Lázaro; A Gaona; G Xu; R Weiss; X Estivill
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

6.  Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.

Authors:  C I Brannan; A S Perkins; K S Vogel; N Ratner; M L Nordlund; S W Reid; A M Buchberg; N A Jenkins; L F Parada; N G Copeland
Journal:  Genes Dev       Date:  1994-05-01       Impact factor: 11.361

7.  Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

Authors:  C Lázaro; A Gaona; X Estivill
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

8.  Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

Authors:  K Stephens; L Kayes; V M Riccardi; M Rising; V P Sybert; R A Pagon
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

9.  An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

Authors:  G F Xu; L Nelson; P O'Connell; R White
Journal:  Nucleic Acids Res       Date:  1991-07-11       Impact factor: 16.971

10.  Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart.

Authors:  M M Lakkis; J A Epstein
Journal:  Development       Date:  1998-11       Impact factor: 6.868
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.