Literature DB >> 1906608

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

G F Xu1, L Nelson, P O'Connell, R White.   

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Year:  1991        PMID： 1906608      PMCID： PMC328440          DOI： 10.1093/nar/19.13.3764

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  3 in total

1.  The neurofibromatosis type 1 gene encodes a protein related to GAP.

Authors:  G F Xu; P O'Connell; D Viskochil; R Cawthon; M Robertson; M Culver; D Dunn; J Stevens; R Gesteland; R White
Journal:  Cell       Date:  1990-08-10       Impact factor: 41.582

2.  The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.

Authors:  P O'Connell; D Viskochil; A M Buchberg; J Fountain; R M Cawthon; M Culver; J Stevens; D C Rich; D H Ledbetter; M Wallace
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

3.  The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

Authors:  E P Economou; A W Bergen; A C Warren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205
  3 in total
  23 in total

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

Authors:  Yunus Kasim Terzi; Burcu Sirin; Guzen Hosgor; Esra Serdaroglu; Banu Anlar; Sabiha Aysun; Sukriye Ayter
Journal:  Childs Nerv Syst       Date:  2011-12-09       Impact factor: 1.475

2.  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

3.  Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

Authors:  S M Purandare; R Cawthon; L M Nelson; S Sawada; W S Watkins; K Ward; L B Jorde; D H Viskochil
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.

Authors:  Douglas R Stewart; Christopher L Corless; Brian P Rubin; Michael C Heinrich; Ludwine M Messiaen; Lisa J Kessler; Paul J Zhang; David G Brooks
Journal:  J Med Genet       Date:  2007-01       Impact factor: 6.318

5.  A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Authors:  M Upadhyaya; S H Roberts; J Maynard; E Sorour; P W Thompson; M Vaughan; A O Wilkie; H E Hughes
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

6.  Double inactivation of NF1 in tibial pseudarthrosis.

Authors:  David A Stevenson; Holly Zhou; Shadi Ashrafi; Ludwine M Messiaen; John C Carey; Jacques L D'Astous; Stephen D Santora; David H Viskochil
Journal:  Am J Hum Genet       Date:  2006-05-10       Impact factor: 11.025

7.  Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

Authors:  C Lázaro; H Kruyer; A Gaona; X Estivill
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

8.  Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.

Authors:  M C Valero; E Velasco; A Valero; F Moreno; C Hernández-Chico
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

9.  Somatic mosaicism in a patient with neurofibromatosis type 1.

Authors:  S D Colman; S A Rasmussen; V T Ho; C R Abernathy; M R Wallace
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

10.  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
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