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Mostrando ítems 51-60 de 647
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
(2003-09-01)
We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic ...
BLEPHAROFYMOSIS, CLEFT PALATE AND CONGENITAL CARDIOPATHY ASSOCIATED WITH COGNITIVE DEFICIT, SYNDROME OF BLEPHAROFIMOSIS TYPE OHDOBLEFAROFIMOSIS, PALADAR HENDIDO Y CARDIOPATÍA CONGÉNITA ASOCIADA A DÉFICIT COGNITIVO, SÍNDROME DE BLEFAROFIMOSIS TIPO OHDO
(Universidad Centroccidental Lisandro Alvarado, 2018)
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population
(Wiley-blackwell Publishing, IncMaldenEUA, 2010)
MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile
(Wiley Blackwell, 2016)
Objective The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or ...
Fissuras lábio-palatais: estudo caso-controle
(Universidade de São Paulo (USP), Faculdade de Saúde Pública, 1994-06-01)
Realizou-se um estudo caso-controle com o propósito de se detectar possíveis fatores de risco para o aparecimento de fissuras orais. Foram objeto de análise: local de moradia da mãe nos quatro primeiros meses de gestação, ...
Fissuras lábio-palatais: estudo caso-controle
(Universidade de São Paulo (USP), Faculdade de Saúde Pública, 1994-06-01)
Realizou-se um estudo caso-controle com o propósito de se detectar possíveis fatores de risco para o aparecimento de fissuras orais. Foram objeto de análise: local de moradia da mãe nos quatro primeiros meses de gestação, ...
Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate
(Australian Acad Press, 2014)
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
(2019)
Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...