IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children TH Inoue-Lima, GA Vasques, RC Scalco, M Nakaguma, BB Mendonca, ... Journal of Pediatric Endocrinology and Metabolism 32 (2), 173-179, 2019 | 32 | 2019 |
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 | 27 | 2021 |
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 |
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 |
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants M Nakaguma, AAL Jorge, IJP Arnhold Genetics in Medicine 21 (1), 260-260, 2019 | 12 | 2019 |
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes FA Correa, AAL Jorge, M Nakaguma, APM Canton, SS Costa, MF Funari, ... Clinical endocrinology 88 (3), 425-431, 2018 | 12 | 2018 |
A Bayesian approach to diagnose growth hormone deficiency in children: insulin-like growth factor type 1 is valuable for screening and IGF-binding protein type 3 for confirmation TH Inoue-Lima, GA Vasques, M Nakaguma, LP Brito, BB Mendonça, ... Hormone research in paediatrics 93 (3), 197-205, 2020 | 9 | 2020 |
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 |
Probably pathogenic variants in new candidate genes in patients with pituitary stalk interruption syndrome (PSIS) revealed by whole-exome sequencing FA Correa, M Nakaguma, AAL Jorge, MFA Funari, AM Lerario, ... Hormone Research in Paediatrics, 2019 | 1 | 2019 |
Novel variants in the POU1F1 beta isoform are associated with isolated growth hormone deficiency and combined pituitary hormone deficiency J Hoppmann, D Rockstroh-Lippold, P Gergics, M Nakaguma, ... Hormone Research in Paediatrics, 2018 | 1 | 2018 |
Vitamin D Supplementation for the Prevention of Recurrent Urinary Tract Infection in Women-PROUD: A Randomized Controlled Trial MI Rodriguez-Sanchez, JF Camacho-Palma, C Dominguez-Bellini, ... Principles and Practice of Clinical Research 2 (1), 2016 | 1 | 2016 |
Sorafenib treatment improves refractory hypercalcemia in a patient with metastatic parathyroid carcinoma: a case report AM Lerario, RM Martin, AO Hoff, M Nakaguma, G Castro, CH Teixeira, ... Endocrine Reviews, 2014 | 1 | 2014 |
PMON115 Long term follow-up of patient with gigantism harboring an exon 2 deletion in the AIP gene MKP Huayllas, DS Santos, M Nakaguma, M Costa de Miranda, ... Journal of the Endocrine Society 6 (Supplement_2), A533-A533, 2022 | | 2022 |
Desmopressin Test in Silent Corticothoph Pituitary Adenomas, a Preliminary Study-a Comparison With Cushing Disease MK Huayllas, M Nakaguma, MC de Miranda, PRM Mitsuyama Cardoso Journal of the Endocrine Society 5 (Supplement_1), A642-A642, 2021 | | 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 |
MON-295 Desmopressin Test in Silent Corticothoph Pituitary Adenomas, a Preliminary Study-a Comparison with Cushing Disease MK Huayllas, M Nakaguma, MC de Miranda, C Gruetmacher, ... Journal of the Endocrine Society 4 (Supplement_1), MON-295, 2020 | | 2020 |
OR06-6 Whole-Exome Sequencing of Patients with Pituitary Stalk Interruption Syndrome (PSIS) Reveals Probably Pathogenic Variants in Novel Candidate Genes. F Correa, M Nakaguma, A Jorge, M Funari, A Lerario, L Carvalho, ... Journal of the Endocrine Society 3 (Supplement_1), OR06-6, 2019 | | 2019 |
SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel M NAKAGUMA, F Correa, L Santana, A Figueredo Benedetti, R Perez, ... Journal of the Endocrine Society 3 (Supplement_1), SUN-034, 2019 | | 2019 |