全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Mohammad Reza Sabri , Hossein Shahriari , Mahin Hashemipour
来源:[J].Journal of Research in Medical Sciences(IF 0.684), 2006, Vol.11 (4), pp.234DOAJ
摘要:BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfah...
作者:Mohammad Reza Sabri , Hossein Shahriari , Mahin Hashemipour
来源:[J].Journal of Research in Medical Sciences(IF 0.684), 2006, Vol.11 (4), pp.234-239DOAJ
摘要:BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfah...
作者:Alexander H. Li , Neil A. Hanchard , Dieter Furthner ...
来源:[J].Genome Medicine(IF 3.397), 2017, Vol.9 (1)Springer
摘要:Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, S...
作者:Ana Carolina Vaqueiro , Claudiner Pereira de Oliveira , Mara Santos Cordoba ...
来源:[J].European Journal of Medical Genetics(IF 1.685), 2018, Vol.61 (1), pp.29-33Elsevier
摘要:... In addition to intellectual disability, the patient presents dysmorphic features and multiple cardiac malformations, together with brain malformation, thus contributing to the phenotypic characterization of this rare microdeletion and to the TBL1XR1 gene function.
作者:Halder Ashutosh , Jain Manish , Chaudhary Isha ...
来源:[J].BMC Medical Genetics(IF 2.536), 2010, Vol.11 (1), pp.101DOAJ
摘要:...2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteri...
作者:Toru Egashira , Hideyuki Shimizu , Yoshitake Yamada ...
来源:[J].The International Journal of Cardiovascular Imaging(IF 2.648), 2014, Vol.30 (7), pp.1267-1268Springer
摘要:Abstract(#br)This is the first report of rare simultaneous complication of three cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale. We successfully operated to replace the aortic valve and ascending aorta, and...
作者:Tetyda Paulina Dobak , Gregory Starrak , Kathleen Linn ...
来源:[J].Acta Veterinaria Scandinavica, 2017, Vol.59 (1)Springer
摘要:Cor triatriatum dexter (CTD) is a rare congenital cardiac malformation with various manifestations and has been sporadically described in dogs. Clinically the dogs present with nonspecific signs of right heart failure or Budd-Chiari-like syndrome. Other associated concurrent card...
作者:Berfin Uysal , Osman Dönmez , Fahrettin Uysal ...
来源:[J].Pediatrics International(IF 0.875), 2015, Vol.57 (1), pp.177-179Wiley
摘要:... Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a T urkish child with CNS with small indel mutation (c.614_621del CACCCCGG ins TT ) in exon 6 of NPHS 1 and also major cardiac malformation...
作者:Hulya Ozkan-Ulu , Yavuz Yilmaz , Fatma Nur Sari ...
来源:[J].Pediatrics & Neonatology(IF 0.932), 2011, Vol.52 (6), pp.358-360Elsevier
摘要:... A wide spectrum of associated congenital cardiac malformations, which are usually minor, has been described in autosites. However, a single-ventricle heart anomaly in the autosite has been reported in a very few cases. We report an unusual case of heteropagus with a complex cardiac malformation...
作者:Paveena Sodhi , Banani Poddar , Veena Parmar
来源:[J].The Indian Journal of Pediatrics(IF 0.715), 2001, Vol.68 (10), pp.989-990Springer
摘要:Abstract(#br)A neonate with a fatal cardiac malformation due to maternal valproate intake during pregnancy is presented.

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