What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome [PDF]
, 2003 The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules.
Karmiloff-Smith, Annette +1 more
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Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
South African Journal of Psychiatry, 2018 DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch.
Keneilwe Molebatsi, Anthony O. Olashore
doaj +1 more source
Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady [PDF]
, 2012 We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism.
Chow, Wing-sun +7 more
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Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis
Journal of Health Sciences, 2014 DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches.
Senka Mesihović Dinarević, Emina Vukas
doaj +1 more source
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]
, 2004 Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B +2 more
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Severe dystrophy in DiGeorge syndrome
World Journal of Gastroenterology, 2009 We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow's milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was
Barnabás, Rózsai +4 more
openaire +2 more sources
The Turkish Journal of Pediatrics, 2000 CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11.
M Alikaşifoğlu +5 more
doaj
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression
Case Reports in Psychiatry, 2016 Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome ...
James J. Bresnahan +3 more
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The Three R\u27s of Delayed Hypersensitivity [PDF]
, 1974 Delayed hypersensitivity is one of several immune responses initiated by thymus-derived (T) lymphocytes. The mononuclear infiltrate of delayed hypersensitivity is a collaborative phenomenon between T lymphocytes and monocytes.
Horwitz, David
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Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders [PDF]
, 2014 Acknowledgements Funding was provided by the Wellcome Trust and Tenovus Scotland. Prof Fragoso is the recipient of a Post Doctoral Science without Borders grant from the Brazilian National Council for Scientific and Technological Development (CNPq, 37450/
Fragoso, Yara Dadalti +6 more
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