| Genetic evidence of the association of DEAH-box helicase 37 defects with 46, XY gonadal dysgenesis spectrum TE Da Silva, NL Gomes, AM Lerário, CE Keegan, MY Nishi, FM Carvalho, ... The Journal of Clinical Endocrinology & Metabolism 104 (12), 5923-5934, 2019 | 47 | 2019 |
| A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant NL Gomes, LCP de Paula, JM Silva, TE Silva, AM Lerário, MY Nishi, ... Clinical genetics 95 (1), 172-176, 2019 | 41 | 2019 |
| Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development NL Gomes, RL Batista, MY Nishi, AM Lerário, TE Silva, ... The Journal of Clinical Endocrinology & Metabolism 107 (5), e1797-e1806, 2022 | 36 | 2022 |
| Long‐term outcomes and molecular analysis of a large cohort of patients with 46, XY disorder of sex development due to partial gonadal dysgenesis NL Gomes, AM Lerário, AZ Machado, DR Moraes, TE Silva, IJP Arnhold, ... Clinical endocrinology 89 (2), 164-177, 2018 | 20 | 2018 |
| A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome TE da Silva, MY Nishi, EMF Costa, RM Martin, FM Carvalho, ... Pediatric nephrology 26, 1311-1315, 2011 | 20 | 2011 |
| Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46, XY patients with gonadal dysgenesis AZ Machado, TE da Silva, EMF Costa, MG Dos Santos, MY Nishi, VN Brito, ... European journal of medical genetics 55 (12), 690-694, 2012 | 16 | 2012 |
| DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum TE da Silva, NL Gomes, AM Lerario, CE Keegan, MY Nishi, FM Carvalho, ... bioRxiv, 477992, 2018 | 1 | 2018 |
| OR27-01 Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46, XY Differences/Disorders of Sex Development (DSD) NLR Almeida Gomes, RL Batista, MY Nishi, AM Lerario, TE Silva, ... Journal of the Endocrine Society 4 (Supplement_1), OR27-01, 2020 | | 2020 |
| Combining clinical and genetic approaches in diagnosing a large Brazilian cohort of patients with 46, XY Differences of Sex Development (DSD) NL Gomes, RL Batista, MY Nishi, AM Lerário, TE Silva, M Funari, ... Hormone Research in Paediatrics, 2019 | | 2019 |
| Amplo espectro fenotípico do DDS disgenético 46, XY causado por variantes deletérias no DEAH-Box Helicase 37 (DHX37) NLRA Gomes, TES Silva, AM Lerario, MY Nishi, LCP Paula, ... Archives of endocrinology and metabolism. São Paulo, 2019 | | 2019 |
| DEAH-box helicase 37 (DHX37): novo gene candidato à etiologia dos distúrbios da determinação sexual 46, XY NLRA Gomes, TES Silva, AM Lerario, EMF Costa, LCP Paula, ... Archives of endocrinology and metabolism. São Paulo, 2018 | | 2018 |
| DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46, XY Gonadal Dysgenesis N Gomes, T Silva, A Lerario, RL Batista, JA Faria Junior, D Moraes, ... KARGER, 2018 | | 2018 |
| The Recurring Heterozygous p.Arg92Trp NR5A1 mutation Identified in a Brazilian 46,XX Testicular DSD Patient MY Nishi, BB Mendonca, AZ Machado, B Ferraz-de-Souza, NL Gomes, ... 99th Annual Meeting of the Endocrine Society, 2017 | | 2017 |
| Targeted Massively Parallel Sequencing for the Diagnosis of 46, XY Disorders of Sex Development (DSD) NL Gomes, AM Lerario, MM Franca, TE Silva, MY Nishi, MFA Funari, ... 99th Annual Meeting of the Endocrine Society, 2017 | | 2017 |
| Papel do gene DHX37 na etiologia dos distúrbios do desenvolvimento sexual 46, XY associados a anormalidades do desenvolvimento gonadal TE Silva Universidade de São Paulo, 2017 | | 2017 |
| Causas genéticas de falência ovariana primária S Domenice, AZ Machado, TE Silva, MM FRANçA, MAG Santos, ... Endocrinologia: princípios e práticas, 2017 | | 2017 |
| Exonic Splicing Mutations by Silent Nucleotide Variation in the Androgen Receptor Gene Causes Androgen Insensitivity Syndrome RL Batista, AS Rodrigues, TE SILVA, FS Cunha, NL Gomes, D Rodrigues, ... Hormone Research in Paediatrics, 2016 | | 2016 |
| Caracterização fenológica de acessos de espinheira-santa. RL BARBIERI, MP MARIOT, TE SILVA, JM VITÓRIA | | 2015 |
| Mutations in the DHX37 Gene Identified by Whole-Exome Sequencing are a Novel Cause of the Embryonic Testicular Regression Syndrome in Four Families with 46, XY DSD T Silva, A Lerario, M Nishi, M Funari, F Denes, E Costa, B Mendonca, ... KARGER, 2015 | | 2015 |
| Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris R Silva, S Domenice, M Nishi, A Machado, T Silva, M Santos, M Brandão, ... Hormone Research in Paediatrics 76 (suppl. 4), 22 res. 58, 2011 | | 2011 |
SORAHIA DOMENICEProfessora Assistente do Hospital das Clínicas da Faculdade de Medicina da USPGeverifieerd e-mailadres voor hcnet.usp.br
