نتایج جستجو برای: digeorge syndrome

تعداد نتایج: 621981  

2016
Jean-Loup Duband Sophie Escot Claire Fournier-Thibault

The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcription...

Journal: :Genome Biology 2001

2016
Daniel G. Bichet Lawrence Rice Jasmin Levallois-Gignac

Daniel G. Bichet1, Lawrence Rice2 and Jasmin Levallois-Gignac3 Department of Medicine and Molecular and Integrative Physiology, University of Montreal, and Service de Néphrologie, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada, Weill Cornell Medical College, Houston Methodist Hospital, Houston TX, USA and Division of Nephrology, Dr Georges-L.-Dumont University Hospital Centre, Mon...

Journal: :Brain & development 2017
Marco Duarte Joana Afonso Ana Moreira Diana Antunes Cristina Ferreira Hildeberto Correia Margarida Marques Sílvia Sequeira

Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. ...

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