An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis-Reference-Cited by-同舟云学术

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An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

Published:2016-03-01 Issue:2 Volume:36 Page:194-196
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Yoon Jihoon G.¹,Shin Saeam¹,Jung Jo Won²,Lee Seung-Tae¹,Choi Jong Rak¹

Affiliation:

1. Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

2. Division of Pediatric Cardiology, Department of Pediatrics, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Korea

Funder

National Research Foundation of Korea

Ministry of Education, Science and Technology

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

http://synapse.koreamed.org/pdf/10.3343/alm.2016.36.2.194

Reference7 articles.

1. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

2. Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci

3. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

4. α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

5. The developmental genetics of congenital heart disease

Cited by 4 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. FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms;International Journal of Molecular Sciences;2019-08-26

2. Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome;The Turkish Journal of Pediatrics;2019

3. Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome;Epileptic Disorders;2018-06

4. Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation;BioEssays;2016-03-18

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