Literature DB >> 1907526

Molecular study in von Recklinghausen neurofibromatosis (NF1).

R Vivarelli1, G Bartalini, L Calistri, P Balestri, A Figus, M Pirastu, A Cao, A Fois.   

Abstract

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.

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Year:  1991        PMID： 1907526     DOI： 10.1007/bf00247864

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


  8 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.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

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.  Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I.

Authors:  P O'Connell; R J Leach; D H Ledbetter; R M Cawthon; M Culver; J R Eldridge; A K Frej; T R Holm; E Wolff; M J Thayer
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

5.  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

6.  A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.

Authors:  S R Diehl; M Boehnke; R P Erickson; L M Ploughman; K A Seiler; J L Lieberman; H B Clarke; M A Bruce; E K Schorry; M Pericak-Vance
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

7.  Precise localization of NF1 to 17q11.2 by balanced translocation.

Authors:  D H Ledbetter; D C Rich; P O'Connell; M Leppert; J C Carey
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

8.  Tightly linked markers for the neurofibromatosis type 1 gene.

Authors:  R White; Y Nakamura; P O'Connell; M Leppert; J M Lalouel; D Barker; D Goldgar; M Skolnick; J Carey; C E Wallis
Journal:  Genomics       Date:  1987-12       Impact factor: 5.736
  8 in total

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