نتایج جستجو برای: conotruncal defects

تعداد نتایج: 134160  

Journal: :American journal of epidemiology 2002
Beate Ritz Fei Yu Scott Fruin Guadalupe Chapa Gary M Shaw John A Harris

The authors evaluated the effect of air pollution on the occurrence of birth defects ascertained by the California Birth Defects Monitoring Program in neonates and fetuses delivered in southern California in 1987-1993. By using measurements from ambient monitoring stations of carbon monoxide (CO), nitrogen dioxide, ozone, and particulate matter <10 microm in aerodynamic diameter, they calculate...

Journal: :Human molecular genetics 2002
Satoru Muto Atsu Aiba Yuichirou Saito Kazuki Nakao Kenji Nakamura Kyoichi Tomita Tadaichi Kitamura Masahiko Kurabayashi Ryozo Nagai Eiji Higashihara Peter C Harris Motoya Katsuki Shigeo Horie

Mutations of either PKD1 or PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The molecular function of the gene product of PKD1, polycystin-1, in vitro has been elucidated recently, but the molecular pathological consequences of the loss of polycystin-1 in vivo have remained unclear. We have generated a mouse with a targeted deletion of exons 2-6 of Pkd1 to study t...

Journal: :The European respiratory journal 2004
K E Roberts J J McElroy W P K Wong E Yen A Widlitz R J Barst J A Knowles J H Morse

The aim of the present study was to determine if patients with both pulmonary arterial hypertension (PAH), due to pulmonary vascular obstructive disease, and congenital heart defects (CHD), have mutations in the gene encoding bone morphogenetic protein receptor (BMPR)-2. The BMPR2 gene was screened in two cohorts: 40 adults and 66 children with PAH/CHD. CHDs were patent ductus arteriosus, atria...

2008
J. Yang S. L. Carmichael M. Canfield J. Song G. M. Shaw

This study examined individual and household socioeconomic status (SES) in relation to phenotypes of neural tube defects, orafacial clefts, and conotruncal heart defects using data from the National Birth Defects Prevention Study with 2,551 nonmalformed liveborn controls and 1,841 cases delivered in 1997–2000. The individual SES was measured by maternal and paternal education, occupation, and h...

Journal: :International journal of cardiology 2010
Luciana Gioli-Pereira Alexandre Costa Pereira Sônia M Mesquita José Xavier-Neto Antônio Augusto Lopes José Eduardo Krieger

BACKGROUND Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects in human beings. In this study, we evaluated the presence and frequency of mutations in the NKX2.5 gene on 159 unrelated patients with a diverse range of non-syndromic congenita...

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