نتایج جستجو برای: genetic syndromes

تعداد نتایج: 687913  

Journal: :European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2009
Stephanie Fuller Alex S Nord Marsha Gerdes Gil Wernovsky Gail P Jarvik Judy Bernbaum Elaine Zackai James William Gaynor

OBJECTIVE For most newborns, congenital heart defects (CHD) appear to be isolated anomalies and the brain is presumed to have normal developmental potential. Most studies of neurodevelopmental outcomes have focused on operative management strategies. METHODS Infants with complex CHD and no identified syndromes other than 22q11 microdeletions enrolled in a study of apolipoprotein E (APOE) poly...

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Journal: :Jornal de pediatria 2014
Luiz F L Pegoraro Carlos E Steiner Eloisa H R V Celeri Claudio E M Banzato Paulo Dalgalarrondo

OBJECTIVE this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the...

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2010
Sara De Sanctis Manuela Nozzi Marianna Del Torto Alessandra Scardapane Stefania Gaspari Giuseppina de Michele Luciana Breda Francesco Chiarelli

During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndr...

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Journal: :Journal of Genetic Syndromes & Gene Therapy 2013

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Journal: :American Journal of Medical Genetics Part A 2019

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2012
Yamini Krishnan Jerri Chen Thomas V. McDonald

Much progress has been made in identifying genetic loci linked to hereditary arrhythmia syndromes over the past decade and a half. Linkage analyses for Mendelian diseases have been powerful in the discovery phases. Considerable challenges remain however, for the clinician faced with individual patients and families when the clinical symptoms are atypical or intermediate and when novel mutations...

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Journal: :Proceedings of the Royal Society B: Biological Sciences 2020

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Journal: :Internal Medicine 2006

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Journal: :Frontiers in Neurology 2017

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Journal: :Biomarker Insights 2018

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