Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication-Reference-Cited by-同舟云学术

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Published:2014-11-07 Issue:1 Volume:15 Page:
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Pires Renato,Pires Lu’s M,Vaz Sara O,Maciel Paula,Anjos Rui,Moniz Raquel,Branco Claudia C,Cabral Rita,Carreira Isabel M,Mota-Vieira Luisa

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12863-014-0115-6/fulltext.html

Reference31 articles.

1. Mademont-Soler I, Morales C, Soler A, Clusellas N, Margarit E, Martínez-Barrios E, Martínez JM, Sánchez A: MLPA: a prenatal diagnostic tool for the study of congenital heart defects?. Gene. 2012, 500: 151-154. 10.1016/j.gene.2012.03.030.

2. Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA: Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. Am J Med Genet Part A. 2012, 158A: 720-725. 10.1002/ajmg.a.35214.

3. Wessels MW, Willems PJ: Genetic factors in non-syndromic congenital heart malformations. Clin Genet. 2010, 78: 103-123. 10.1111/j.1399-0004.2010.01435.x.

4. Molina O, Anton E, Vidal F, Blanco J: Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. Hum Genet. 2011, 129: 35-44. 10.1007/s00439-010-0894-4.

5. Emanuel BS, Saitta SC: From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet. 2007, 8: 869-883. 10.1038/nrg2136.

Cited by 13 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. Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills;Psychiatric Genetics;2023-07-04

2. Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis;Journal of Pediatric Genetics;2023-02-17

3. New Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review;Cureus;2022-06-18

4. Molecular Evolution of DNA Topoisomerase III Beta (TOP3B) in Metazoa;Journal of Molecular Evolution;2021-05-17

5. The many lives of type IA topoisomerases;Journal of Biological Chemistry;2020-05