Literature DB >> 3107130

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

D Barker, E Wright, K Nguyen, L Cannon, P Fain, D Goldgar, D T Bishop, J Carey, B Baty, J Kivlin.   

Abstract

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

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Year:  1987        PMID： 3107130     DOI： 10.1126/science.3107130

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  138 in total

1.  Transplacental induction of peripheral nervous tumor in the Syrian golden hamster by N-nitroso-N-ethylurea. A new animal model for von Recklinghausen's neurofibromatosis.

Authors:  T Nakamura; M Hara; T Kasuga
Journal:  Am J Pathol       Date:  1989-08       Impact factor: 4.307

Review 2.  Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping.

Authors:  Ulrich Broeckel; Nicholas J Schork
Journal:  J Physiol       Date:  2004-01-01       Impact factor: 5.182

3.  Nerve root and sciatic trunk enlargement in Déjérine-Sottas disease: MRI appearances.

Authors:  N Masuda; H Hayashi; H Tanabe
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

4.  A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; D Teare; V Newton; T Strachan; R Ramsden; R Harris
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

Review 5.  Mouse chromosome 11.

Authors:  A M Buchberg; M S Buckwalter; S A Camper
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 6.  Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression.

Authors:  Karl Staser; Feng-Chun Yang; D Wade Clapp
Journal:  Annu Rev Pathol       Date:  2011-11-07       Impact factor: 23.472

Review 7.  Molecular and cellular mechanisms of learning disabilities: a focus on NF1.

Authors:  C Shilyansky; Y S Lee; A J Silva
Journal:  Annu Rev Neurosci       Date:  2010       Impact factor: 12.449

8.  Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

Authors:  F Faravelli; M Upadhyaya; M Osborn; S M Huson; R Hayward; R Winter
Journal:  J Med Genet       Date:  1999-12       Impact factor: 6.318

9.  A search for evidence of somatic mutations in the NF1 gene.

Authors:  A M John; M Ruggieri; R Ferner; M Upadhyaya
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

10.  Radiological investigation of neurofibromatosis type 2.

Authors:  P Akeson; S Holtås
Journal:  Neuroradiology       Date:  1994       Impact factor: 2.804
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