Central precocious puberty caused by mutations in the imprinted gene MKRN3 AP Abreu, A Dauber, DB Macedo, SD Noel, VN Brito, JC Gill, P Cukier, ... New England Journal of Medicine 368 (26), 2467-2475, 2013 | 552 | 2013 |
Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency AAL Jorge, FG Marchisotti, LR Montenegro, LR Carvalho, BB Mendonca, ... The Journal of Clinical Endocrinology & Metabolism 91 (3), 1076-1080, 2006 | 191 | 2006 |
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty A Dauber, M Cunha-Silva, DB Macedo, VN Brito, AP Abreu, SA Roberts, ... The Journal of Clinical Endocrinology & Metabolism 102 (5), 1557-1567, 2017 | 181 | 2017 |
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3 DB Macedo, AP Abreu, ACS Reis, LR Montenegro, A Dauber, ... The Journal of Clinical Endocrinology & Metabolism 99 (6), E1097-E1103, 2014 | 150 | 2014 |
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 | 112 | 2016 |
Deletion of copies of the gene encoding old yellow enzyme (TcOYE), a NAD (P) H flavin oxidoreductase, associates with in vitro-induced benznidazole resistance in Trypanosoma cruzi SMF Murta, MA Krieger, LR Montenegro, FFM Campos, CM Probst, ... Molecular and biochemical parasitology 146 (2), 151-162, 2006 | 112 | 2006 |
DLK1 Is a Novel Link Between Reproduction and Metabolism LG Gomes, M Cunha-Silva, RP Crespo, CO Ramos, LR Montenegro, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2112-2120, 2019 | 93 | 2019 |
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism LGL Amato, LR Montenegro, AM Lerario, AAL Jorge, G Guerra Junior, ... European journal of endocrinology 181 (2), 103-119, 2019 | 80 | 2019 |
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 |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies FA Correa, EB Trarbach, C Tusset, AC Latronico, LR Montenegro, ... Endocrine Connections 4 (2), 100, 2015 | 45 | 2015 |
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), e1041-e1050, 2021 | 41 | 2021 |
Novel genetic and biochemical findings of DLK1 in children with central precocious puberty: a Brazilian–Spanish Study L Montenegro, JI Labarta, M Piovesan, APM Canton, R Corripio, ... The Journal of Clinical Endocrinology & Metabolism 105 (10), 3165-3172, 2020 | 34 | 2020 |
The interactive effect of GHR-exon 3 and− 202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome AF Braz, EF Costalonga, LR Montenegro, EB Trarbach, SRR Antonini, ... The Journal of Clinical Endocrinology & Metabolism 97 (4), E671-E677, 2012 | 32 | 2012 |
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 |
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, e1913, 2020 | 27 | 2020 |
Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty M Krstevska-Konstantinova, J Jovanovska, VB Tasic, LR Montenegro, ... Journal of Pediatric Endocrinology and Metabolism 27 (1-2), 199-201, 2014 | 27 | 2014 |
Analysis of the insulin‐like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp) AC Leal, LR Montenegro, RF Saito, TC Ribeiro, DC Coutinho, ... Clinical endocrinology 78 (4), 558-563, 2013 | 26 | 2013 |
Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant FG Marchisotti, AAL Jorge, LR Montenegro, K Berger, LRS de Carvalho, ... Growth Hormone & IGF Research 19 (2), 179-186, 2009 | 25 | 2009 |
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 |
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients LV Ferreira, SCAL Souza, LR Montenegro, AC Malaquias, IJP Arnhold, ... Clinical endocrinology 69 (3), 426-431, 2008 | 22 | 2008 |