Browsing by Author de Mello, MP

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PreviewIssue DateTitleAuthor(s)AdvisorType
2008XX maleness and XX true hermaphroditism in SRY-negative monozygotic twins: Additional evidence for a common originMaciel-Guerra, AT; de Mello, MP; Coeli, FB; Ribeiro, ML; Miranda, ML; Marques-De-Faria, AP; Baptista, MTM; Moraes, SGE; Guerra-Junior, G-Artigo de periódico
2005A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversalAssumpcao, JG; Ferraz, LFC; Benedetti, CE; Maciel-Guerra, AT; Guerra, G; Marques-de-Faria, AP; Baptista, TM; de Mello, MP-Artigo de periódico
2001Molecular characterization of Acidithiobacillus ferrooxidans and A-thiooxidans strains isolated from mine wastes in BrazilPaulino, LC; Bergamo, RF; de Mello, MP; Garcia, O; Manfio, GP; Ottoboni, LMM-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
2000Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patientAssumpcao, JG; Hackel, C; Marques-de-Faria, AP; de Mello, MP-Artigo de periódico
2004Genetic variation and relationships at six VNTR loci in two distinct sample populations in BrazilRamos, CF; Magna, LA; de Mello, MP; Silva, R; de Moura-Neto, RS-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
1999Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesisAssumpcao, JG; Guerra, ATM; de Mello, MP-Artigo de periódico
2002Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypesAssumpcao, JG; Benedetti, CE; Maciel-Guerra, AT; Guerra, G; Baptista, MTM; Scolfaro, MR; de Mello, MP-Artigo de periódico
2010Novel DMRT1 3 ' UTR+11insT mutation associated to XY partial gonadal dysgenesisde Mello, MP; Coeli, FB; Assumpcao, JG; Castro, TM; Maciel-Guerra, AT; Marques-de-Faria, AP; Baptista, MTM; Guerra, G-Artigo de periódico
2002Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequenceAssumpcao, JG; Berkofsky-Fessler, W; Campos, NV; Maciel-Guerra, AT; Li, SL; Melaragno, MI; de Mello, MP; Warburton, PE-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
2009Impairment in Anthropometric Parameters and Body Composition in Females with Classical 21-Hydroxylase DeficiencyGoncalves, EM; de Lemos-Marini, SHV; de Mello, MP; Baptista, MTM; D'Souza-Li, LFR; Baldin, AD; Carvalho, WRG; Farias, ES; Guerra, G-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
2006Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: Some considerations about familial heterogeneityde Freitas, ECLB; Nascimento, SRD; de Mello, MP; Gil-da-Silva-Lopes, VL-Artigo de periódico
2013Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variantsdos Santos, AP; Andrade, JGR; Piveta, CSC; de Paulo, J; Guerra, G; de Mello, MP; Maciel-Guerra, AT-Artigo de periódico
2010Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in BrazilBelgini, DRB; de Mello, MP; Baptista, MTM; de Oliveira, DM; Denardi, FC; Garmes, HM; Grassiotto, OD; Pinto, CLB; Marques-de-Faria, AP; Maciel-Guerra, AT; Guerra, G-Artigo de periódico
2011Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of casesRocha, VBC; Guerra, G; Marques-de-Faria, AP; de Mello, MP; Maciel-Guerra, AT-Artigo de periódico
2012Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5 alpha-Reductase Type 2 DeficiencyVeiga, NN; Medaets, PAR; Petroli, RJ; Calais, FL; de Mello, MP; Castro, CCTDS; Guaragna, G; Sewaybricker, LE; Marques-de-Faria, AP; Maciel-Guerra, AT; Guerra, G-Artigo de periódico