Browsing by Author Marques-de-Faria, AP

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Showing results 1 to 18 of 18
PreviewIssue DateTitleAuthor(s)AdvisorType
2004Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopiaTorres, FR; Montenegro, MA; Marques-de-Faria, AP; Guerreiro, MM; Cendes, F; Lopes-Cendes, I-Artigo de periódico
2011OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequencesBarros, BA; Moraes, SG; Coeli, FB; Assumpcao, JG; De Mello, MP; Maciel-Guerra, AT; Carvalho, AB; Viguetti-Campos, N; Vieira, TAP; Amstalden, EMI; Andrade, JGR; Esquiaveto-Aun, AM; Marques-de-Faria, AP; D'Souza-Li, LFR; Lemos-Marini, SHV; Guerra, G-Artigo de periódico
2005Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)Kjaer, KW; Hansen, L; Schwabe, GC; Marques-de-Faria, AP; Eiberg, H; Mundlos, S; Tommerup, N; Rosenberg, T-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
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
2004Brief report: Acrocallosal syndrome and autismSteiner, CE; Guerreiro, MM; Marques-de-Faria, AP-Artigo de periódico
2002Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)Steiner, CE; Cintra, ML; Marques-de-Faria, AP-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
2000Spondylocarpotarsal synostosis with ocular findingsSteiner, CE; Torriani, M; Norato, DYJ; Marques-de-Faria, AP-Artigo de periódico
2011Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Techniqueda Silva-Costa, SM; Martins, FTA; Pereira, T; Pomilio, MCA; Marques-de-Faria, AP; Sartorato, EL-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
1998True hermaphrodites in the southeastern region of Brazil: A different cytogenetic and gonadal profileGuerra, G; de Mello, NP; Assumpcao, JG; Morcillo, AM; Marini, SHVD; Baptista, MTM; Silva, RBPE; Marques-de-Faria, AP; Maciel-Guerra, AT-Artigo de periódico
2009Screening for the GJB2 c.-3170 G > A (IVS 1+1 G > A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplificationda Silva-Costa, SM; Coeli, FB; Lincoln-de-Carvalho, CR; Marques-de-Faria, AP; Kurc, M; Pereira, T; Pomilio, MCA; Sartorato, EL-Artigo de periódico
2012Clinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiencyCastro, CCTD; Guaragna, G; Calais, FL; Coeli, FB; Leal, IRL; Cavalcante, EF; Monlleo, IL; Pereira, SRF; Silva, RBDE; Gabiatti, JRE; Marques-de-Faria, AP; Maciel-Guerra, AT; De Mello, MP; Guerra, G-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
2008Congenital perineal lipoma presenting as ambiguous genitaliaGuerra, G; Aun, AME; Miranda, ML; Beraldo, LP; Moraes, SG; Baptista, MTM; Marques-de-Faria, AP; Maciel-Guerra, AT-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
2000A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndromeMarques-de-Faria, AP; Maciel-Guerra, AT; Junior, GG; Baptista, MTM-Artigo de periódico