Results 111 to 120 of about 171,735 (299)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
Public health and landfill sites [PDF]
, 2004 Landfill management is a complex discipline, requiring very high levels of organisation, and considerable investment. Until the early 1990’s most Irish landfill sites were not managed to modern standards.
Bruen, M. +3 more
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Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Pattern of congenital brain malformations at a referral hospital in Saudi Arabia : An MRI study
Annals of Saudi Medicine, 2006 Background: More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed.
Alorainy Ibrahim
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Congenital malformations in a fetus and a newborn according to the data of Perinatal Center of the Saratov region [PDF]
Саратовский научно-медицинский журнал, 2016 The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and correction of congenital malformations, the
Chernenkov Yu.V. +2 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
Diabetes and congenital malformations. Cienfuegos, 2005-2015
Medisur, 2019 Foundation: diabetes is the metabolic disorder with the greatest impact on maternal health and its offspring, with greater emphasis on congenital malformations.
Oramis Isabel Padrón Aguilera +4 more
doaj +2 more sources
Angiopoietin-2 predicts morbidity in adults with Fontan physiology. [PDF]
, 2019 Morbidity in patients with single-ventricle Fontan circulation is common and includes arrhythmias, edema, and pulmonary arteriovenous malformations (PAVM) among others. We sought to identify biomarkers that may predict such complications.
Aboulhosn, Jamil A +8 more
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