| Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors MQ Almeida, MCBV Fragoso, CFP Lotfi, MG Santos, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 93 (9), 3524-3531, 2008 | 199 | 2008 |
| Androgen insensitivity syndrome: a review RL Batista, EMF Costa, AS Rodrigues, NL Gomes, JA Faria Jr, MY Nishi, ... Archives of endocrinology and metabolism 62, 227-235, 2018 | 185 | 2018 |
| ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia GA Alencar, AM Lerario, MY Nishi, BMP Mariani, MQ Almeida, J Tremblay, ... The Journal of Clinical Endocrinology & Metabolism 99 (8), E1501-E1509, 2014 | 156 | 2014 |
| Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature GA Vasques, N Amano, AJ Docko, MFA Funari, EPS Quedas, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 98 (10), E1636-E1644, 2013 | 139 | 2013 |
| SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability AAL Jorge, SC Souza, MY Nishi, AE Billerbeck, DCC Libório, CA Kim, ... Clinical endocrinology 66 (1), 130-135, 2007 | 139 | 2007 |
| Wide spectrum of NR5A1‐related phenotypes in 46, XY and 46, XX individuals S Domenice, AZ Machado, FM Ferreira, B Ferraz‐de‐Souza, AM Lerario, ... Birth Defects Research Part C: Embryo Today: Reviews 108 (4), 309-320, 2016 | 127 | 2016 |
| Disorders of sex development: effect of molecular diagnostics JC Achermann, S Domenice, TASS Bachega, MY Nishi, BB Mendonca Nature Reviews Endocrinology 11 (8), 478-488, 2015 | 110 | 2015 |
| 46, XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency BB Mendonca, NL Gomes, EMF Costa, M Inacio, RM Martin, MY Nishi, ... The Journal of steroid biochemistry and molecular biology 165, 79-85, 2017 | 108 | 2017 |
| Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults MQ Almeida, IC Soares, TC Ribeiro, MCBV Fragoso, LV Marins, ... The Journal of Clinical Endocrinology & Metabolism 95 (3), 1458-1462, 2010 | 91 | 2010 |
| Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients S Domenice, RV Correa, EMF Costa, MY Nishi, E Vilain, IJP Arnhold, ... Brazilian journal of medical and biological research 37, 145-150, 2004 | 89 | 2004 |
| A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives S Domenice, M Yumie Nishi, AE Correia Billerbeck, AC Latronico, ... Human genetics 102, 213-215, 1998 | 84 | 1998 |
| Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based … M Cools, KP Wolffenbuttel, R Hersmus, BB Mendonca, J Kaprová, ... Human Reproduction 32 (12), 2561-2573, 2017 | 77 | 2017 |
| Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings RM Martin, CJ Lin, MY Nishi, AEC Billerbeck, AC Latronico, DW Russell, ... The Journal of Clinical Endocrinology & Metabolism 88 (7), 3027-3034, 2003 | 72 | 2003 |
| The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis AC Malaquias, RC Scalco, EGP Fontenele, EF Costalonga, AD Baldin, ... Hormone research in paediatrics 80 (6), 449-456, 2014 | 70 | 2014 |
| Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method MY Nishi, S Domenice, MA Medeiros, BB Mendonca, AEC Billerbeck American journal of medical genetics 107 (4), 299-305, 2002 | 68 | 2002 |
| Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing TK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ... The Journal of Pediatrics 215, 192-198, 2019 | 61 | 2019 |
| Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency RC Scalco, SSJ Melo, PN Pugliese-Pires, MFA Funari, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 95 (1), 328-332, 2010 | 61 | 2010 |
| 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 | 56 | 2014 |
| A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency AEC Billerbeck, TASS Bachega, ET Frazzatto, MY Nishi, AC Goldberg, ... The Journal of Clinical Endocrinology & Metabolism 84 (8), 2870-2872, 1999 | 51 | 1999 |
| Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing MM França, MFA Funari, MY Nishi, AM Narcizo, S Domenice, EMF Costa, ... Clinical genetics 93 (2), 408-411, 2018 | 50 | 2018 |
