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	Provedor de dados Genet. Mol. Biol. (2) Biol. Res. (1) Autor Jara,Lilian (3) Blanco,Rafael (2) Arcos-Burgos,Mauricio (1) Carrasco,Valentina (1) Carreño,Hernán (1) Godoy,Raul (1) Gonzalez&#8211;Hormazabal,Patricio (1) Mayo,Tomas de (1) Morales,Sebastian (1) Muñoz,M.A. (1) Obreque,Victor (1) Palomino,Hernán (1) Paredes,Mónica (1) Santos,José Luis (1) Suazo,José (1) Mais... Palavra-chave Candidate genes (1) Case-parents trio design (1) Ethnic composition (1) Hereditary and early onset breast cancer (1) Large genomic rearrangements (1) Linkage disequilibrium (1) Nonsyndromic cleft lip/palate (1) Pathogenic point mutations (1) Susceptibility genes (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Journal article (1) Ano 2017 (1) 2008 (1) 1998 (1) País Brazil (2) Chile (1) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Assessment of the association between SMAD1 and HHIP gene variation and non-syndromic cleft-lip palate in Chilean case-parent trios Genet. Mol. Biol. Suazo,José; Santos,José Luis; Jara,Lilian; Blanco,Rafael. Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with features of a complex genetic trait. Several studies have reported positive association and linkage between NSCLP and microsatellite markers in the 4q28-4q33 region particularly with the D4S192 (4q31) marker. We hypothesized that the candidate genes SMAD1 and HHIP (4q31) could be involved in the etiology of NSCLP based on previous positive linkage results and their important role in maxillofacial development. We evaluated the possible association between microsatellite markers located at less than 1 cM from these genes and NSCLP using a sample of 58 Chilean case-parent trios. Microsatellite markers were analyzed using the polymerase chain reaction (PCR) with fluorescent labeled... Tipo: Info:eu-repo/semantics/article Palavras-chave: Candidate genes; Case-parents trio design; Linkage disequilibrium; Nonsyndromic cleft lip/palate. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400006 Complex segregation analysis of nonsyndromic cleft lip/palate in a Chilean population Genet. Mol. Biol. Blanco,Rafael; Arcos-Burgos,Mauricio; Paredes,Mónica; Palomino,Hernán; Jara,Lilian; Carreño,Hernán; Obreque,Victor; Muñoz,M.A.. A população urbana Chilena contemporânea deriva da mistura de ameríndios nativos com espanhóis, apresentando uma incidência média de fissura labial não sindrômica associada ou não a fissura palatina (NSCLP) de 1,8 por 1000 nascimentos vivos. A análise de segregação complexa usando o programa de computador POINTER foi feita em 249 pedigrees estendidos, distribuídos em 202 famílias simplex e 47 famílias multiplex obtidas de probands de NSCLP afetados (157 homens e 92 mulheres). Esses pedigrees deram origem a 326 indivíduos afetados e mais de 1454 parentes. Oito modelos hipotéticos foram examinados e comparados pelo teste <FONT FACE="Symbol">c</font> 2 log2 razão de máxima verossimilhança. Os modelos que postulam que NSCLP não era transmitida... Tipo: Info:eu-repo/semantics/article Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100023 Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations Biol. Res. Jara,Lilian; Morales,Sebastian; Mayo,Tomas de; Gonzalez&#8211;Hormazabal,Patricio; Carrasco,Valentina; Godoy,Raul. Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to... Tipo: Journal article Palavras-chave: Hereditary and early onset breast cancer; Susceptibility genes; Pathogenic point mutations; Large genomic rearrangements; Ethnic composition. Ano: 2017 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505 Registros recuperados: 3 Primeira ... 1 ... Última

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