| PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease LA Caetano, LS Santana, AD Costa‐Riquetto, AM Lerario, M Nery, ... Clinical genetics 93 (2), 382-386, 2018 | 43 | 2018 |
| Targeted sequencing identifies novel variants in common and rare MODY genes LS de Santana, LA Caetano, AD Costa‐Riquetto, PC Franco, RP Dotto, ... Molecular Genetics & Genomic Medicine 7 (12), e962, 2019 | 28 | 2019 |
| Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families LS Santana, LA Caetano, AD Costa‐Riquetto, EPS Quedas, M Nery, ... Clinical genetics 92 (4), 388-396, 2017 | 27 | 2017 |
| Insights from the genetic characterization of central precocious puberty associated with multiple anomalies APM Canton, ACV Krepischi, LR Montenegro, S Costa, C Rosenberg, ... Human Reproduction 36 (2), 506-518, 2021 | 21 | 2021 |
| Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing RA Carvalho, B Urtremari, AAL Jorge, LS Santana, EPS Quedas, T Sekiya, ... European journal of endocrinology 179 (6), 391-407, 2018 | 20 | 2018 |
| 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 |
| Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia RP Dotto, LS Santana, SC Lindsey, LA Caetano, LF Franco, ... Archives of endocrinology and metabolism 63 (3), 250-257, 2019 | 16 | 2019 |
| 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 | 14 | 2019 |
| Homozygous and heterozygous nuclear lamin A p. R582C mutation: different lipodystrophic phenotypes in the same kindred RM Montenegro Jr, AD Costa-Riquetto, VO Fernandes, ... Frontiers in endocrinology 9, 458, 2018 | 14 | 2018 |
| 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 |
| Evaluation of SHOX defects in the era of next‐generation sequencing MFA Funari, JS de Barros, LS Santana, AM Lerario, BL Freire, TK Homma, ... Clinical genetics 96 (3), 261-265, 2019 | 11 | 2019 |
| Pathogenesis of primary aldosteronism: impact on clinical outcome LS Santana, AG Guimaraes, MQ Almeida Frontiers in Endocrinology 13, 927669, 2022 | 6 | 2022 |
| Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment PC Franco, LS de Santana, AD Costa-Riquetto, ACS Junior, AAL Jorge, ... Diabetes research and clinical practice 187, 109875, 2022 | 5 | 2022 |
| Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil AD Costa‐Riquetto, LS de Santana, PC Franco, ACS Jr, AE Martio, ... Clinical Genetics 103 (4), 434-447, 2023 | 2 | 2023 |
| The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age AC Santomauro Jr, ÁLF Magalhães, FT Motta, LS de Santana, PC Franco, ... Diabetology & Metabolic Syndrome 15 (1), 15, 2023 | 2 | 2023 |
| Clonagem molecular do oncogene EZH2 de leucemia mieloide crônica e perspectivas terapêuticas JC Gaspar, LS de Santana, CMF de Souza, MM Caseiro, ... O Mundo da Saúde 39 (3), 307-315, 2015 | 2 | 2015 |
| Conhecimento dos Educadores Físicos sobre os Riscos do Traço Falciforme LS de Santana, JC Gaspar, NFG Santos, MA Toma UNILUS Ensino e Pesquisa 9 (17), 12-20, 2013 | 2 | 2013 |
| Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma GFC Fagundes, F Freitas-Castro, LS Santana, ACF Afonso, J Petenuci, ... The Journal of Clinical Endocrinology & Metabolism 108 (8), 2105-2114, 2023 | 1 | 2023 |
| Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of … M Teles, AS Junior, A Costa-Riquetto, L Gomes, L De Santana, A Jorge, ... | | 2024 |
| Comprehensive Analysis of Clinical Features in Index Cases With Multiple Endocrine Neoplasia Type 1 Refine the Risk Rate for Detection of Mutation Distinguishing Negative … B Urtremari, RA Carvalho, LS Santana, LV Antonio, FG Ribeiro, ... Journal of the Endocrine Society 5 (Suppl 1), A1014, 2021 | | 2021 |
Alexander Augusto de Lima JorgeFaculdade de Medicina da Universidade de São Paulo - FMUSPE-mail confirmado em usp.br
