Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome-Reference-Cited by-同舟云学术

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Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome

Published:2009 Issue: Volume: Page:NA-NA
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defect Res A

Author:

Heike Carrie L.,Starr Jacqueline R.,Rieder Mark J.,Cunningham Michael L.,Edwards Karen L.,Stanway Ian B.,Crawford Dana C.

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.20604/fullpdf

Reference49 articles.

1. Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome;Aggarwal;Dev Disabil Res Rev,2008

2. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients;Arnold;Hum Mol Genet,2006

3. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations;Arnold;Development,2006

4. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes;Bhangale;Hum Mol Genet,2005

5. Estimating coverage and power for genetic association studies using near-complete variation data;Bhangale;Nat Genet,2008

Cited by 6 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. Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome;Genetics Research;2024-03-30

2. Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region;Frontiers in Genetics;2021-04-29

3. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication;Journal of Translational Medicine;2018-09-21

4. Identification of Copy Number Variations in Isolated Tetralogy of Fallot;Pediatric Cardiology;2015-06-03

5. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus;BMC Medical Genetics;2011-12

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