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	Provedor de dados Genet. Mol. Biol. (2) Autor Bonadia,Luciana Cardoso (1) Cavalcanti,Denise P. (1) Cavalcanti,Denise Pontes (1) Félix,Temis Maria (1) Kanazawa,Thatiane Yoshie (1) Leite,Júlio César L. (1) Magalhães,José Antônio A. (1) Mattos,Eduardo P. (1) Sanseverino,Maria Teresa V. (1) Schüler-Faccini,Lavinia (1) Todeschini,Luiz Alberto (1) Mais... Palavra-chave Skeletal dysplasia (2) Campomelic dysplasia (1) F384L (1) FGFR3 (1) Hypochondroplasia (1) Osteochondrodysplasias (1) Prenatal diagnosis (1) SOX9 (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2015 (1) 2014 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations Genet. Mol. Biol. Mattos,Eduardo P.; Sanseverino,Maria Teresa V.; Magalhães,José Antônio A.; Leite,Júlio César L.; Félix,Temis Maria; Todeschini,Luiz Alberto; Cavalcanti,Denise P.; Schüler-Faccini,Lavinia. Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth... Tipo: Info:eu-repo/semantics/article Palavras-chave: Campomelic dysplasia; Skeletal dysplasia; Osteochondrodysplasias; SOX9; Prenatal diagnosis. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014 Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes Genet. Mol. Biol. Kanazawa,Thatiane Yoshie; Bonadia,Luciana Cardoso; Cavalcanti,Denise Pontes. Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ~70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p.F384L in exon 10, together with the suspicion that this second change could be a modulator of the phenotype, prompted us to investigate this hypothesis in a cohort of patients. An analysis of 48 patients with FGFR3 chondrodysplasia... Tipo: Info:eu-repo/semantics/article Palavras-chave: FGFR3; F384L; Hypochondroplasia; Skeletal dysplasia. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500003 Registros recuperados: 2 Primeira ... 1 ... Última

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