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	Provedor de dados Genet. Mol. Biol. (2) Autor Otto,Paulo A. (2) Pardono,Eliete (2) Alves,Leandro Ucela (1) Auricchio,Maria Teresa B.M. (1) Iughetti,Paula (1) Lezirovitz,Karina (1) Mazzeu,Juliana F. (1) Mingroni Netto,Regina Célia (1) Mingroni-Netto,Regina C. (1) Nascimento,Rafaella M.P. (1) Mais... Palavra-chave EEC syndrome (1) Incomplete penetrance (1) P63-associated disorders (1) PAX3 gene (1) SHFM (1) Sensorineural hearing impairment (1) TP63-mutations (1) Telecanthus (1) Waardenburg syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/report (1) Ano 2015 (1) 2006 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome Genet. Mol. Biol. Alves,Leandro Ucela; Pardono,Eliete; Otto,Paulo A.; Mingroni Netto,Regina Célia. Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and... Tipo: Info:eu-repo/semantics/report Palavras-chave: EEC syndrome; TP63-mutations; P63-associated disorders; SHFM. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037 Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant Genet. Mol. Biol. Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.; Otto,Paulo A.. We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. Tipo: Info:eu-repo/semantics/article Palavras-chave: Waardenburg syndrome; PAX3 gene; Incomplete penetrance; Sensorineural hearing impairment; Telecanthus. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 Registros recuperados: 2 Primeira ... 1 ... Última

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