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Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome
(Universidade de São Paulo, Hospital de Reabilitação de Anomalias CraniofaciaisBauru, 2013-11-08)
Objective: To investigate a frequency Attention Deficit Hyperactivity Disorder in children and adolescents with 22q11 deletion syndrome. Design/participants: 13 individuals, being 8 females and 5 males, aged 6 to 18 years, ...
Mutation screening and tissue expression patterns implicate SRY-box 14 (SOX14) in human eye and brain developmental anomalies
(NATURE PUBLISHING GROUP, 2019)
Anophthalmia, microphthalmia and coloboma (AMC) are developmental eye anomalies which occur in approximately 3 in 10,000 births. They are a genetically heterogeneous group of conditions, with over 300 genes having been ...
Potential applications of Desferrioxamine and other iron chelators for the clinical management of neurodegenerative diseases.
(Instituto de Física da Universidade de São Paulo.São Paulo, 2014-05-21)
Recently, potential applications of Desferrioxamine and other
iron chelators have attracted attention for the clinicai management of
neurodegenerative diseases. Several studies in the literature indicate that
metal ...
Novel mutations of PAX3, MITF and SOX10 genes found in Waardenburg syndrome types 1 and 2 in Brazilian patients
(Sociedade Brasileira de Genática - SBGÁguas de Lindóia, 2013-09-16)
Waardenburg syndrome (WS) is a dominant inherited disorder characterized by pigmentary abnormalities of the skin
and iris (heterochromia or hypochromia irides) associated with sensorial hearing loss and cranio-facial ...