Literature DB >> 2506682

Progress towards identifying the neurofibromatosis (NF1) gene.

F S Collins, P O'Connell, B A Ponder, B R Seizinger.   

Abstract

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder of humans. Linkage analysis has recently mapped the NF1 gene to the proximal long arm of chromosome 17. The identification of two NF1 patients with balanced translocations has now allowed the location of the gene to be narrowed to a few hundred kilobases of chromosome band 17q11.2, using a combination of somatic cell hybrid technology, linking clones and pulsed field gel electrophoresis.

Entities:  

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Year:  1989        PMID： 2506682     DOI： 10.1016/0168-9525(89)90085-1

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  9 in total

1.  Neurofibromatosis: chronological history and current issues.

Authors:  João Roberto Antônio; Eny Maria Goloni-Bertollo; Lívia Arroyo Trídico
Journal:  An Bras Dermatol       Date:  2013 May-Jun       Impact factor: 1.896

2.  Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.

Authors:  M K Yagle; G Parruti; W Xu; B A Ponder; E Solomon
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

3.  A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage.

Authors:  D I Rodenhiser; M B Coulter-Mackie; J H Jung; S M Singh
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

4.  A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1).

Authors:  D M Black; H Nicolai; J Borrow; E Solomon
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025

5.  A 90 kb DNA deletion associated with neurofibromatosis type 1.

Authors:  M Upadhyaya; A Cheryson; W Broadhead; A Fryer; D J Shaw; S Huson; M R Wallace; L B Andersen; D A Marchuk; D Viskochil
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

Review 6.  Molecular genetics of neurofibromatosis type 1 (NF1).

Authors:  M H Shen; P S Harper; M Upadhyaya
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

7.  A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1.

Authors:  A K Godwin; L Vanderveer; D C Schultz; H T Lynch; D A Altomare; K H Buetow; M Daly; L A Getts; A Masny; N Rosenblum
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line.

Authors:  J E Reynolds; J A Fletcher; C H Lytle; L Nie; C C Morton; S R Diehl
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

9.  Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I.

Authors:  Jannath Begum-Ali; Anna Kolesnik-Taylor; Isabel Quiroz; Luke Mason; Shruti Garg; Jonathan Green; Mark H Johnson; Emily J H Jones
Journal:  J Neurodev Disord       Date:  2021-05-28       Impact factor: 4.025
  9 in total

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