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 |
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, 2016 | 38 | 2016 |
46, XY and 45, X/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis JGR Andrade, G Guerra-Júnior, AT Maciel-Guerra Arquivos Brasileiros de Endocrinologia & Metabologia 54, 331-334, 2010 | 36 | 2010 |
The novel p. Cys65Tyr mutation in NR5A1 gene in three 46, XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency HC Fabbri, JGR de Andrade, FC Soardi, FL De Calais, RJ Petroli, ... BMC medical genetics 15 (1), 1-8, 2014 | 32 | 2014 |
Clinical and genetic findings of five patients with WT1-related disorders JGR Andrade, MS Guaragna, FC Soardi, G Guerra-Júnior, MP Mello, ... Arquivos Brasileiros de Endocrinologia & Metabologia 52, 1236-1243, 2008 | 30 | 2008 |
Clinical but not histological outcomes in males with 45, X/46, XY mosaicism vary depending on reason for diagnosis ML Ljubicic, A Jørgensen, C Acerini, J Andrade, A Balsamo, S Bertelloni, ... The Journal of Clinical Endocrinology & Metabolism 104 (10), 4366-4381, 2019 | 29 | 2019 |
Clinical but not histological outcomes in males with 45, X/46, XY mosaicism vary depending on reason for diagnosis ML Ljubicic, A Jørgensen, C Acerini, J Andrade, A Balsamo, S Bertelloni, ... The Journal of Clinical Endocrinology & Metabolism 104 (10), 4366-4381, 2019 | 29 | 2019 |
NR5A1 loss-of-function mutations lead to 46, XY partial gonadal dysgenesis phenotype: report of three novel mutations HC Fabbri, JG Ribeiro de Andrade, AT Maciel-Guerra, G Guerra-Júnior, ... Sexual Development 10 (4), 191-199, 2016 | 27 | 2016 |
Long-term follow-up of patients with 46, XY partial gonadal dysgenesis reared as males J Gabriel Ribeiro de Andrade, AP Marques-de-Faria, HC Fabbri, ... International journal of endocrinology 2014, 2014 | 24 | 2014 |
Long-term follow-up of patients with 46, XY partial gonadal dysgenesis reared as males J Gabriel Ribeiro de Andrade, AP Marques-de-Faria, HC Fabbri, ... International journal of endocrinology 2014, 2014 | 24 | 2014 |
Clinical findings and follow-up of 46, XY and 45, X/46, XY testicular dysgenesis JGR Andrade, H Fabbri-Scallet, AP Dos Santos, M Cools, R Werner, ... Sexual Development 13 (4), 171-177, 2020 | 21 | 2020 |
The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies AT Maciel-Guerra, J De Paulo, AP Santos, G Guaragna-Filho, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 545-551, 2012 | 21 | 2012 |
The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies AT Maciel-Guerra, J De Paulo, AP Santos, G Guaragna-Filho, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 545-551, 2012 | 21 | 2012 |
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development H Fabbri‐Scallet, MP de Mello, G Guerra‐Júnior, AT Maciel‐Guerra, ... Human mutation 39 (1), 114-123, 2018 | 17 | 2018 |
45, X/46, XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue JGR Andrade, LALDA Andrade, G Guerra-Junior, AT Maciel-Guerra Journal of Pediatric Endocrinology and Metabolism 30 (8), 899-904, 2017 | 13 | 2017 |
Ovotesticular disorder of sex development with unusual karyotype: patient report GB Paula, JG Ribeiro Andrade, G Guaragna-Filho, LE Sewaybricker, ... Journal of Pediatric Endocrinology and Metabolism 28 (5-6), 677-680, 2015 | 10 | 2015 |
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis SC Cunha, JGR Andrade, CM Angelis, A Billis, JM Bustorff-Silva, ... Archives of endocrinology and metabolism 62, 644-647, 2018 | 7 | 2018 |
Perfil clínico de 62 casos de distúrbios da diferenciação sexual JGR Andrade, RRS Martins, D Caldas, J Brasil, ALA Meiriño, MP Jung Revista Paulista de Pediatria 26, 321-328, 2008 | 7 | 2008 |
Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development? H Fabbri-Scallet, R Werner, MS Guaragna, JGR de Andrade, ... Sexual Development 16 (4), 252-260, 2022 | 6 | 2022 |