Novel 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 … J Assumpção, C Benedetti, A Maciel-Guerra, G Guerra, M Baptista, ... Journal of Molecular Medicine 80, 782-790, 2002 | 81 | 2002 |
Mutation update for the NR5A1 gene involved in DSD and infertility H Fabbri‐Scallet, LM de Sousa, AT Maciel‐Guerra, G Guerra‐Júnior, ... Human mutation 41 (1), 58-68, 2020 | 73 | 2020 |
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients FC Soardi, M Barbaro, IF Lau, SHV Lemos-Marini, MTM Baptista, ... The Journal of Clinical Endocrinology & Metabolism 93 (6), 2416-2420, 2008 | 72 | 2008 |
Identification of new world Leishmania using ribosomal gene spacer probes P Guevara, G Alonso, JF da Silveira, M de Mello, JV Scorza, N Añez, ... Molecular and biochemical parasitology 56 (1), 15-26, 1992 | 68 | 1992 |
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21‐hydroxylase deficiency LC Paulino, M Araujo, G Guerra Jr, S Marini, MP De Mello Acta Paediatrica 88 (3), 275-283, 1999 | 65 | 1999 |
XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin AT Maciel-Guerra, MP de Mello, FB Coeli, ML Ribeiro, ML Miranda, ... The Journal of Clinical Endocrinology & Metabolism 93 (2), 339-343, 2008 | 63 | 2008 |
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency M Araujo, MR Sanches, LA Suzuki, G Guerra Júnior, SB Farah, ... Braz. j. med. biol. res, 1-13, 1996 | 63 | 1996 |
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia N Torres, MP Mello, CMR Germano, LLK Elias, AC Moreira, M Castro Brazilian journal of medical and biological research 36, 1311-1318, 2003 | 59 | 2003 |
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density PO de Almeida Freire, SHV de Lemos-Marini, AT Maciel-Guerra, ... Journal of Bone and Mineral Metabolism 21, 396-401, 2003 | 58 | 2003 |
Excited indole-3-aldehyde from the peroxidase-catalyzed aerobic oxidation of indole-3-acetic acid. Reaction with and energy transfer to transfer ribonucleic acid MP De Mello, SM De Toledo, M Haun, G Cilento, N Duran Biochemistry 19 (23), 5270-5275, 1980 | 57 | 1980 |
Complete gonadal dysgenesis in clinical practice: the 46, XY karyotype accounts for more than one third of cases VBC Rocha, G Guerra-Júnior, AP Marques-de-Faria, MP de Mello, ... Fertility and sterility 96 (6), 1431-1434, 2011 | 55 | 2011 |
Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency MG Santos, AZ Machado, CN Martins, S Domenice, EMF Costa, MY Nishi, ... BioMed research international 2014 (1), 787465, 2014 | 53 | 2014 |
Differential gene expression in response to copper in Acidithiobacillus ferrooxidans analyzed by RNA arbitrarily primed polymerase chain reaction LC Paulino, MP de Mello, LMM Ottoboni Electrophoresis 23 (4), 520-527, 2002 | 47 | 2002 |
Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X/46, XY karyotype or its variants AP dos Santos, JG Ribeiro Andrade, CSC Piveta, J de Paulo, ... BMC Medical Genetics 14, 1-11, 2013 | 43 | 2013 |
OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences BA Barros, SG Moraes, FB Coeli, JG Assumpção, MP De Mello, ... Human reproduction 26 (12), 3450-3455, 2011 | 42 | 2011 |
Iron‐regulated proteins in Phanerochaete chrysosporium and Lentinula edodes: Differential analysis by sodium dodecyl sulfate polyacrylamide gel … ML Hernández‐Macedo, A Ferraz, J Rodríguez, LMM Ottoboni, ... Electrophoresis 23 (4), 655-661, 2002 | 41 | 2002 |
H28+ C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency IF Lau, FC Soardi, SHV Lemos-Marini, G Guerra Jr, MTM Baptista, ... The Journal of Clinical Endocrinology & Metabolism 86 (12), 5877-5880, 2001 | 41 | 2001 |
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α‐Reductase Type 2 Deficiency NN Veiga-Junior, PAR Medaets, RJ Petroli, FL Calais, MP de Mello, ... International Journal of Endocrinology 2012 (1), 964876, 2012 | 40 | 2012 |
408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing GB De Paula, BA Barros, S Carpini, BJ Tincani, TN Mazzola, ... International journal of endocrinology 2016 (1), 4963574, 2016 | 38 | 2016 |
Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients FC Soardi, JY Penachioni, GZ Justo, TASS Bachega, M Inacio, ... The Journal of Clinical Endocrinology & Metabolism 94 (9), 3481-3485, 2009 | 38 | 2009 |