Browsing by Author Soardi, FC

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Showing results 1 to 9 of 9
PreviewIssue DateTitleAuthor(s)AdvisorType
2008Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Ricketsde Macedo, LC; Soardi, FC; Ananias, N; Belangero, VMS; Rigatto, SZP; De-Mello, MP; D'Souza-Li, L-Artigo de periódico
2010Nobel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyCoeli, FB; Soardi, FC; Bernardi, RD; de Araujo, M; Paulino, LC; Lau, IF; Petroli, RJ; de Lemos-Marini, SHV; Baptista, MTM; Guerra, G; de-Mello, MP-Artigo de periódico
2011Molecular Diagnosis of 5 alpha-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Developmentde Calais, FL; Soardi, FC; Petroli, RJ; Lusa, ALG; Silva, RBDE; Maciel-Guerra, AT; Guerra, G; de Mello, MP-Artigo de periódico
2008Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patientsSoardi, FC; Barbaro, M; Lau, IF; Lemos-Marini, SHV; Baptista, MTM; Guerra-Junior, G; Wedell, A; Lajic, S; de Mello, MP-Artigo de periódico
2001H28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiencyLau, IF; Soardi, FC; Lemos-Marini, SHV; Guerra, G; Baptista, MTM; De Mello, MP-Artigo de periódico
2010The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash SyndromeGuaragna, MS; Soardi, FC; Assumpcao, JG; Zambaldi, LDG; Cardinalli, IA; Yunes, JA; de Mello, MP; Brandalise, SR; Aguiar, SD-Artigo de periódico
2014The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiencyFabbri, HC; de Andrade, JGR; Soardi, FC; de Calais, FL; Petroli, RJ; Maciel-Guerra, AT; Guerra-Junior, G; de Mello, MP-Artigo de periódico
2013New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian familyBraghini, CA; Neshich, IAP; Neshich, G; Soardi, FC; de Mello, MP; Costa, VP; de Vasconcellos, JPC; de Melo, MB-Artigo de periódico
2010Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case studySoardi, FC; Coeli, FB; Maciel-Guerra, AT; Guerra, G; de Mello, MP-Artigo de periódico