| High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic DS Bessa, DB Macedo, VN Brito, MM França, LR Montenegro, ... Neuroendocrinology 105 (1), 17-25, 2017 | 69 | 2017 |
| Genetics of primary ovarian insufficiency in the next-generation sequencing era MM França, BB Mendonca Journal of the Endocrine Society 4 (2), bvz037, 2020 | 64 | 2020 |
| Genetics of ovarian insufficiency and defects of folliculogenesis MM França, BB Mendonca Best practice & research Clinical endocrinology & metabolism 36 (1), 101594, 2022 | 51 | 2022 |
| 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 | 45 | 2018 |
| POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells MM França, B Ferraz-de-Souza, MG Santos, AM Lerario, MCBV Fragoso, ... Molecular and cellular endocrinology 371 (1-2), 140-147, 2013 | 42 | 2013 |
| Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency MM Franca, X Han, MFA Funari, AM Lerario, MY Nishi, EGP Fontenele, ... The Journal of Clinical Endocrinology & Metabolism 104 (7), 2827-2841, 2019 | 36 | 2019 |
| Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency MM França, MY Nishi, MFA Funari, AM Lerario, EC Baracat, ... European journal of medical genetics 62 (3), 186-189, 2019 | 35 | 2019 |
| Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism MM França, A German, GW Fernandes, XH Liao, AC Bianco, S Refetoff, ... Thyroid 31 (2), 202-207, 2021 | 32 | 2021 |
| A novel homozygous missense FSHR variant associated with hypergonadotropic hypogonadism in two siblings from a Brazilian family MM França, AM Lerario, MFA Funari, MY Nishi, AM Narcizo, MP de Mello, ... Sexual Development 11 (3), 137-142, 2017 | 31 | 2017 |
| Central precocious puberty caused by a heterozygous deletion in the MKRN3 promoter region DB Macedo, MM França, LR Montenegro, M Cunha-Silva, DS Bessa, ... Neuroendocrinology 107 (2), 127-132, 2018 | 30 | 2018 |
| Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency MM Franca, MFA Funari, AM Lerario, MG Santos, MY Nishi, S Domenice, ... PLoS One 15 (10), e0240795, 2020 | 29 | 2020 |
| A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure MM França, MFA Funari, AM Lerario, MY Nishi, CC Pita, EGP Fontenele, ... Endocrine 58, 442-447, 2017 | 23 | 2017 |
| POD-1/Tcf21 overexpression reduces endogenous SF-1 and StAR expression in rat adrenal cells MM França, NP Abreu, TAM Vrechi, CF Lotfi Brazilian Journal of Medical and Biological Research 48, 1087-1094, 2015 | 14 | 2015 |
| Comprehensive genetic analysis of 128 candidate genes in a cohort with idiopathic, severe, or familial osteoporosis MGM Rocha-Braz, MM França, AM Fernandes, AM Lerario, EA Zanardo, ... Journal of the Endocrine Society 4 (12), bvaa148, 2020 | 13 | 2020 |
| POD-1/TCF21 reduces SHP expression, affecting LRH-1 regulation and cell cycle balance in adrenocortical and hepatocarcinoma tumor cells MM França, B Ferraz-de-Souza, AM Lerario, MCBV Fragoso, CFP Lotfi BioMed Research International 2015, 2015 | 12 | 2015 |
| Transcriptomic response to 1, 25-dihydroxyvitamin D in human fibroblasts with or without a functional vitamin D receptor (VDR): novel target genes and insights into VDR basal … PLF Costa, MM França, ML Katayama, ET Carneiro, RM Martin, ... Cells 8 (4), 318, 2019 | 10 | 2019 |
| The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort AM Fernandes, MGM Rocha-Braz, MM França, AM Lerario, VRF Simões, ... Osteoporosis International 31, 1341-1352, 2020 | 8 | 2020 |
| New evidences on the regulation of SF-1 expression by POD1/TCF21 in adrenocortical tumor cells MM França, AM Lerario, MCBV Fragoso, CFP Lotfi Clinics 72, 391-394, 2017 | 8 | 2017 |
| Severe resistance to thyroid hormone beta in a patient with athyreosis F Salas-Lucia, MM França, JA Amrhein, JE Weir, AM Dumitrescu, ... Thyroid 32 (3), 336-339, 2022 | 5 | 2022 |
| Nonspecific binding of a frequently used vitamin D receptor (VDR) antibody: important implications for vitamin D research in human health PLF Costa, MM França, B Ferraz-de-Souza Endocrine 54, 556-559, 2016 | 4 | 2016 |
