Literature DB >> 12397798

Fluorescence genotyping for screening cryptic telomeric rearrangements.

Laurence Colleaux1, Solange Heuertz, Florence Molinari, Marlene Rio.   

Abstract

Mesh：

Year:  2002        PMID： 12397798     DOI： 10.1385/1-59259-300-3:181

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN： 1064-3745


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  3 in total

1.  Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

Authors:  M-L Jacquemont; D Sanlaville; R Redon; O Raoul; V Cormier-Daire; S Lyonnet; J Amiel; M Le Merrer; D Heron; M-C de Blois; M Prieur; M Vekemans; N P Carter; A Munnich; L Colleaux; A Philippe
Journal:  J Med Genet       Date:  2006-07-13       Impact factor: 6.318

2.  Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Authors:  Marlène Rio; Valérie Malan; Sarah Boissel; Annick Toutain; Ghislaine Royer; Stéphanie Gobin; Nicole Morichon-Delvallez; Catherine Turleau; Jean-Paul Bonnefont; Arnold Munnich; Michel Vekemans; Laurence Colleaux
Journal:  Eur J Hum Genet       Date:  2009-10-21       Impact factor: 4.246

3.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318
  3 in total

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