Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11-Reference-Cited by-同舟云学术

Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11

Published:1999-07 Issue:1 Volume:65 Page:247-249
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wadey Roy,McKie Judith,Papapetrou Charalambos,Sutherland Helen,Lohman Frans,Osinga Jan,Frohn Ingrid,Hofstra Robert,Meijers Carel,Amati Francesca,Conti Emanuela,Pizzuti Antonio,Dallapiccola Bruno,Novelli Giuseppe,Scambler Peter

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. DiGeorge syndrome and 22q11 rearrangements;Augusseau;Hum Genet,1986

2. DiGeorge syndrome: is the solution in HAND?;Baldini;Nat Genet,1999

3. Molecular definition of 22q11 deletions in 151 VCFS patients;Carlson;Am J Hum Genet,1997

4. How many breaks do we need to CATCH on 22q11?;Dallapiccola;Am J Hum Genet,1996

5. A common region of 10p deleted in DiGeorge and velo-cardio-facial syndrome;Daw;Nat Genet,1996

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes;Prenatal Diagnosis;2014-02-12

2. Genetic Syndromes with Evidence of Immune Deficiency;Stiehm's Immune Deficiencies;2014

3. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients;Human Mutation;2011-09-16

4. Developmental perspectives on copy number abnormalities of the 22q11.2 region;Clinical Genetics;2010-04-23

5. Cardiac Registry Screening for DiGeorge Critical Region Deletion Using Loss of Heterozygosity Analysis;Pediatric and Developmental Pathology;2006-07