| Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes SW Davis, F Castinetti, LR Carvalho, BS Ellsworth, MA Potok, RH Lyons, ... Molecular and cellular endocrinology 323 (1), 4-19, 2010 | 191 | 2010 |
| 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 | 190 | 2006 |
| A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction LR Carvalho, KS Woods, BB Mendonca, N Marcal, AL Zamparini, S Stifani, ... The Journal of clinical investigation 112 (8), 1192-1201, 2003 | 158 | 2003 |
| Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly MM França, AAL Jorge, LRS Carvalho, EF Costalonga, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 95 (11), E384-E391, 2010 | 122 | 2010 |
| Role of GLI2 in hypopituitarism phenotype IJP Arnhold, MM França, LR Carvalho, BB Mendonca, AAL Jorge Journal of molecular endocrinology 54 (3), R141-R150, 2015 | 65 | 2015 |
| Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe ME Melo, S Marui, LR Carvalho, IJP Arnhold, CC Leite, BB Mendonça, ... Clinical endocrinology 66 (1), 95-102, 2007 | 61 | 2007 |
| 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 |
| Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly MM França, AAL Jorge, LRS Carvalho, EF Costalonga, AP Otto, ... Clinical endocrinology 78 (4), 551-557, 2013 | 44 | 2013 |
| Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a … AP Otto, MM França, FA Correa, EF Costalonga, CC Leite, BB Mendonca, ... Pituitary 18, 561-567, 2015 | 43 | 2015 |
| Genetic evidence of the association of DEAH-box helicase 37 defects with 46, XY gonadal dysgenesis spectrum TE Da Silva, NL Gomes, AM Lerário, CE Keegan, MY Nishi, FM Carvalho, ... The Journal of Clinical Endocrinology & Metabolism 104 (12), 5923-5934, 2019 | 41 | 2019 |
| Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion MG Abrão, MV Leite, LR Carvalho, AEC Billerbeck, MY Nishi, AS Barbosa, ... Clinical endocrinology 65 (3), 294-300, 2006 | 41 | 2006 |
| 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 | 32 | 2016 |
| Corepressors TLE1 and TLE3 interact with HESX1 and PROP1 LR Carvalho, ML Brinkmeier, F Castinetti, BS Ellsworth, SA Camper Molecular endocrinology 24 (4), 754-765, 2010 | 32 | 2010 |
| Toxicity of spike fragments SARS-CoV-2 S protein for zebrafish: A tool to study its hazardous for human health? BHV Fernandes, NM Feitosa, AP Barbosa, CG Bomfim, AMB Garnique, ... Science of The Total Environment 813, 152345, 2022 | 29 | 2022 |
| PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations CMG Cani, H Matushita, LRS Carvalho, IC Soares, LP Brito, MQ Almeida, ... Clinics 66, 1849-1854, 2011 | 29 | 2011 |
| Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery FA Correa, M Nakaguma, JLO Madeira, MY Nishi, MG Abrão, AAL Jorge, ... Archives of Endocrinology and Metabolism 63, 167-174, 2019 | 28 | 2019 |
| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency P Gergics, C Smith, H Bando, AAL Jorge, D Rockstroh-Lippold, ... The American Journal of Human Genetics 108 (8), 1526-1539, 2021 | 25 | 2021 |
| 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 |
| A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome RL Batista, A di Santi Rodrigues, MY Nishi, NL Gomes, JADF Junior, ... The Journal of steroid biochemistry and molecular biology 174, 14-16, 2017 | 24 | 2017 |
| Analysis of craniofacial and extremity growth in patients with growth hormone deficiency during growth hormone therapy MEJ De Faria, LR Carvalho, SM Rossetto, TS Amaral, K Berger, ... Hormone Research in Paediatrics 71 (3), 173-177, 2009 | 23 | 2009 |
