Literature DB >> 8225327

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

C Lázaro1, A Gaona, G Xu, R Weiss, X Estivill.   

Abstract

We describe a polymorphic microsatellite in intron 38 of the neurofibromatosis type 1 (NF1) gene. The microsatellite consists of a CA/GT dinucleotide repeat detecting 8 alleles; it has a heterozygosity of 82%.

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Year:  1993        PMID： 8225327     DOI： 10.1007/bf01247353

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors:  R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal:  Cell       Date:  1990-07-13       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.  Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

Authors:  M R Wallace; D A Marchuk; L B Andersen; R Letcher; H M Odeh; A M Saulino; J W Fountain; A Brereton; J Nicholson; A L Mitchell
Journal:  Science       Date:  1990-07-13       Impact factor: 47.728

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

Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; B Baty; J Kivlin
Journal:  Science       Date:  1987-05-29       Impact factor: 47.728
  4 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.  A highly sensitive genetic protocol to detect NF1 mutations.

Authors:  María Carmen Valero; Yolanda Martín; Elisabete Hernández-Imaz; Alba Marina Hernández; Germán Meleán; Ana María Valero; Francisco Javier Rodríguez-Álvarez; Dolores Tellería; Concepción Hernández-Chico
Journal:  J Mol Diagn       Date:  2011-03       Impact factor: 5.568

8.  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

9.  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

10.  Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

Authors:  Sarka Bendova; Anna Krepelova; Borivoj Petrak; Lenka Kinstova; Zuzana Musova; Eva Rausova; Tatana Marikova
Journal:  J Mol Neurosci       Date:  2007       Impact factor: 3.444
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