A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome-Reference-Cited by-同舟云学术

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A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

Published:2004-11-10 Issue:1-2 Volume:116 Page:83-90
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Prescott Katrina,Woodfine Kathryn,Stubbs Paula,Super Maurice,Kerr Bronwyn,Palmer Rodger,Carter Nigel P.,Scambler Peter

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1195-6.pdf

Reference45 articles.

1. Adham IM, Sallam MA, Steding G, Korabiowska M, Brinck U, Hoyer-Fender S, Oh C, Engel W (2003) Disruption of the pelota gene causes early embryonic lethality and defects in cell cycle progression. Mol Cell Biol 23:1470?1476

2. Bachiller D, Klingensmith J, Shneyder N, Tran U, Anderson R, Rossant J, De Robertis EM (2003) The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development 130:3567?3578

3. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE (2002) Recent segmental duplications in the human genome. Science 297:1003?1007

4. Bijnens AP, Gils A, Jutten B, Faber BC, Heeneman S, Kitslaar PJ, Tordoir JH, de Vries CJ, Kroon AA, Daemen MJ, Cleutjens KB (2003) Vasculin, a novel vascular protein differentially expressed in human atherogenesis. Blood 102:2803?2810

5. Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1998) A chromosomal deletion map of human malformations. Am J Hum Genet 63:1153?1159

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1. 5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome;American Journal of Medical Genetics Part A;2021-07-28

2. Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus Arteriosus;Frontiers in Genetics;2020-11-12

3. Molecular diagnostics for congenital heart disease: a narrative review of the current technologies and applications;Journal of Bio-X Research;2020-07-20

4. A Child with 5q Deletion and Accompanying Chiari 1 Malformation;The Indian Journal of Pediatrics;2020-07-16

5. Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome;Molecular Syndromology;2018

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