Literature DB >> 16470688

Variable phenotype and associations in chromosome 22q11.2 microdeletion.

Murat Derbent, Yunus Emre Bikmaz, Zerrin Yilmaz, Kursad Tokel.   

Abstract

Mesh:

Year:  2006        PMID: 16470688     DOI: 10.1002/ajmg.a.31120

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Authors:  D T Miller; Y Shen; L A Weiss; J Korn; I Anselm; C Bridgemohan; G F Cox; H Dickinson; J Gentile; D J Harris; V Hegde; R Hundley; O Khwaja; S Kothare; C Luedke; R Nasir; A Poduri; K Prasad; P Raffalli; A Reinhard; S E Smith; M M Sobeih; J S Soul; J Stoler; M Takeoka; W-H Tan; J Thakuria; R Wolff; R Yusupov; J F Gusella; M J Daly; B-L Wu
Journal:  J Med Genet       Date:  2008-09-19       Impact factor: 6.318

Review 2.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

  2 in total

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