| Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations (vol 106, pg 1041, 2021) CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ... JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 106 (11), E4794-E4794, 2021 | 41* | 2021 |
| Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ... The Journal of Clinical Endocrinology & Metabolism 106 (4), 1041-1050, 2021 | 41 | 2021 |
| HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype Q Fang, AFF Benedetti, Q Ma, L Gregory, JZ Li, M Dattani, ... Clinical endocrinology 85 (3), 408-414, 2016 | 33 | 2016 |
| SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, ... Clinics 75, 2020 | 27 | 2020 |
| 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 | 23 | 2022 |
| The phenotypic spectrum associated with OTX2 mutations in humans LC Gregory, P Gergics, M Nakaguma, H Bando, G Patti, MJ McCabe, ... European Journal of Endocrinology 185 (1), 121-135, 2021 | 18 | 2021 |
| Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism M Rassi-Cruz, AG Maria, FR Faucz, E London, LAP Vilela, LS Santana, ... Endocrine-Related Cancer 28 (1), 1-13, 2021 | 17 | 2021 |
| Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas J Petenuci, AG Guimaraes, GFC Fagundes, AFF Benedetti, ACF Afonso, ... Clinical Endocrinology 95 (1), 117-124, 2021 | 16 | 2021 |
| Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR M Nakaguma, FA Correa, LS Santana, AFF Benedetti, RV Perez, ... Endocrine Connections 8 (5), 590-595, 2019 | 16 | 2019 |
| Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations … JLO Madeira, MY Nishi, M Nakaguma, AF Benedetti, IP Biscotto, ... Clinical Endocrinology 87 (6), 725-732, 2017 | 16 | 2017 |
| SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas J Petenuci, GFC Fagundes, AFF Benedetti, AG Guimaraes, ACF Afonso, ... Endocrine 72 (2), 586-590, 2021 | 6 | 2021 |
| Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant JH Labello, AFF Benedetti, BV Azevedo, AAL Jorge, VAS Cescato, ... Arch. Endocrinol. Metab., -, 2022 | 5 | 2022 |
| Variants in 46, XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias BL Braga, NL Gomes, MY Nishi, BL Freire, RL Batista, JADF Junior, ... Sexual Development 16 (1), 27-33, 2022 | 5 | 2022 |
| Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum M Nakaguma, NGBP Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, ... Genes 12 (8), 1128, 2021 | 1 | 2021 |
| SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism NGB Pereira Ferreira, JLO Madeira, R Kertsz, P Gergics, AFF Benedetti, ... Journal of the Endocrine Society 4 (Supplement_1), SAT-LB58, 2020 | 1 | 2020 |
| Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities M Griffero, AFF Benedetti, M Pérez, L Carvalho, A Jorge, AC Latronico, ... Journal of Pediatric Endocrinology and Metabolism, 2022 | | 2022 |
| Comparative Exome Capture Methods to Investigate Genes Involved in Hypopituitarism in a Brazilian Population AFF Benedetti, Q Ma, J Li, AB Ozel, S Camper, BB Mendonca, AM Lerario, ... | | 2021 |
| Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes 2021, 12, 1128 M Nakaguma, N Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, Q Ma, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | | 2021 |
| Corrigendum to:“Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations” L Montenegro, MR Piovesan, DB Macedo, M Cunha, A Guimaraes, ... The Journal of Clinical Endocrinology & Metabolism 106 (11), e4794-e4794, 2021 | | 2021 |
| MON-202 Germline SDHB Exon 1 Deletion Is Associated with Absence of 131I-metaiodobenzylguanidine (MIBG) Uptake in Malignant Paragangliomas J Petenuci, GFC Fagundes, FT Motta, ALF Magalhães, AG Guimaraes, ... Journal of the Endocrine Society 4 (Supplement_1), MON-202, 2020 | | 2020 |
