نتایج جستجو برای: conotruncal defects

تعداد نتایج: 134160  

Journal: :Birth defects research. Part A, Clinical and molecular teratology 2006
Willemijn M Meijer Martha M Werler Carol Louik Sonia Hernandez-Diaz Lolkje T W de Jong-van den Berg Allen A Mitchell

BACKGROUND Several studies have suggested a protective effect of folic acid (FA) on congenital heart anomalies. Down syndrome (DS) infants are known to have a high frequency of heart anomalies. Not all children with DS suffer from heart anomalies, which raises the question whether maternal factors might affect the risk of these anomalies. Our objectives were to investigate whether first-trimest...

Journal: :Circulation. Cardiovascular genetics 2013
Nicole Corsten-Janssen Wilhelmina S Kerstjens-Frederikse Gideon J du Marchie Sarvaas Maria E Baardman Marian K Bakker Jorieke E H Bergman Hanne D Hove Ketil R Heimdal Cecilie F Rustad Raoul C M Hennekam Robert M W Hofstra Lies H Hoefsloot Conny M A Van Ravenswaaij-Arts Livia Kapusta

BACKGROUND Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most stu...

Journal: :American journal of epidemiology 2003
Gary M Shaw Verne Nelson David M Iovannisci Richard H Finnell Edward J Lammer

In a case-control study using an assessment of occupational tasks by an industrial hygienist, the authors investigated whether women's occupational exposures increased risks of delivering infants with cleft palate (CP), cleft lip with or without cleft palate (CLP), conotruncal defects, or limb deficiencies. For CP and CLP, exposures were further considered in the presence/absence of infant gene...

2015
Mayu Narematsu Tatsuya Kamimura Toshiyuki Yamagishi Mitsuru Fukui Yuji Nakajima

BACKGROUND Transposition of the great arteries is one of the most commonly diagnosed conotruncal heart defects at birth, but its etiology is largely unknown. The anterior heart field (AHF) that resides in the anterior pharyngeal arches contributes to conotruncal development, during which heart progenitors that originated from the left and right AHF migrate to form distinct conotruncal regions. ...

2018
Thanh T Hoang Elizabeth Goldmuntz Amy E Roberts Wendy K Chung Jennie K Kline John E Deanfield Alessandro Giardini Adolfo Aleman Bruce D Gelb Meghan Mac Neal George A Porter Richard Kim Martina Brueckner Richard P Lifton Sharon Edman Stacy Woyciechowski Laura E Mitchell A J Agopian

The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outf...

Journal: :Birth Defects Research Part A: Clinical and Molecular Teratology 2009

Journal: :Journal of Genetics 2021

The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms immune deficiency. In 85–90% of cases, the DGS caused a heterozygous ~3-Mb deletion, including TBX1 gene, considered one major genes responsible for defect...

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