Literature DB >> 2018080

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

P B Jacky1, Y R Ahuja, K Anyane-Yeboa, W R Breg, N J Carpenter, U G Froster-Iskenius, J P Fryns, T W Glover, K H Gustavson, S F Hoegerman.   

Abstract

The following guidelines were adopted by an Ad Hoc Committee convened at the Fourth International Workshop on the Fragile X Syndrome and X-Linked Mental Retardation to establish minimum cytogenetic standards for the preparation and analysis of the fragile X chromosome. The intention of the committee was to develop and provide practical standards for the routine cytogenetic detection of the fragile X. The guidelines describe reasonable criteria for effective tissue culture methods for eliciting the Xq27.3 fragile site in vitro and for the analysis of such chromosome preparations.

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Year:  1991        PMID: 2018080     DOI: 10.1002/ajmg.1320380249

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation.

Authors:  D Wöhrle; P Steinbach
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 2.  The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

Authors:  B A Oostra; A J Verkerk
Journal:  Chromosoma       Date:  1992-04       Impact factor: 4.316

3.  Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Authors:  B A Oostra; P B Jacky; W T Brown; F Rousseau
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

Review 4.  Blood specimens from patients referred for cytogenetic analysis: Vanderbilt University experience from 1985 to 1992.

Authors:  M G Butler; T Hamill
Journal:  South Med J       Date:  1995-03       Impact factor: 0.954

5.  Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Authors:  K Snow; L K Doud; R Hagerman; R G Pergolizzi; S H Erster; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

6.  Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Authors:  P Steinbach; D Wöhrle; G Tariverdian; I Kennerknecht; G Barbi; H Edlinger; H Enders; M Götz-Sothmann; H Heilbronner; D Hosenfeld
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

  6 in total

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