Literature DB >> 22143351

14q32 deletion syndrome: a clinical report.

Erin L Youngs, Majed Dasouki, Merlin G Butler.   

Abstract

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Year:  2012        PMID： 22143351      PMCID： PMC5176015          DOI： 10.1097/MCD.0b013e328348d8d0

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  12 in total

Review 1.  Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.

Authors:  Lisa Edelmann; Kurt Hirschhorn
Journal:  Ann N Y Acad Sci       Date:  2009-01       Impact factor: 5.691

Review 2.  Clinical utility of contemporary molecular cytogenetics.

Authors:  Bassem A Bejjani; Lisa G Shaffer
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

Review 3.  Diagnosing chromosomal abnormalities from "big" to "small" with molecular cytogenetic technology.

Authors:  R Douglas Wilson; Claire Blight; Sylvie Langlois
Journal:  J Obstet Gynaecol Can       Date:  2009-05

4.  A clinical report and further delineation of the 14q32 deletion syndrome.

Authors:  Erin L Youngs; Jessica A Hellings; Merlin G Butler
Journal:  Clin Dysmorphol       Date:  2011-07       Impact factor: 0.816

5.  Delineation of 15q13.3 microdeletions.

Authors:  A Masurel-Paulet; J Andrieux; P Callier; J M Cuisset; C Le Caignec; M Holder; C Thauvin-Robinet; B Doray; E Flori; M P Alex-Cordier; M Beri; O Boute; B Delobel; A Dieux; L Vallee; S Jaillard; S Odent; B Isidor; C Beneteau; J Vigneron; F Bilan; B Gilbert-Dussardier; C Dubourg; A Labalme; C Bidon; A Gautier; P Pernes; J M Pinoit; F Huet; F Mugneret; B Aral; P Jonveaux; D Sanlaville; L Faivre
Journal:  Clin Genet       Date:  2010-02-09       Impact factor: 4.438

Review 6.  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

Review 7.  Applications of array comparative genomic hybridization in obstetrics.

Authors:  Gary Fruhman; Ignatia B Van den Veyver
Journal:  Obstet Gynecol Clin North Am       Date:  2010-03       Impact factor: 2.844

Review 8.  The array CGH and its clinical applications.

Authors:  Marwan Shinawi; Sau Wai Cheung
Journal:  Drug Discov Today       Date:  2008-07-17       Impact factor: 7.851

9.  Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.

Authors:  Merlin G Butler; William Fischer; Nataliya Kibiryeva; Douglas C Bittel
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

Review 10.  Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Authors:  Jao-Shwann Liang; Keiko Shimojima; Toshiyuki Yamamoto
Journal:  Pediatr Neonatol       Date:  2008-12       Impact factor: 2.083
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