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MARILENA NAKAGUMA
MARILENA NAKAGUMA
Aluna de pós doutorado no Hospital das Clínicas da Universidade de São Paulo
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Year
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
322019
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
282019
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
272021
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
182021
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
162019
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
162017
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
122019
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
122018
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
92020
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
12021
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
12019
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
12018
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
12016
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
12014
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
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Articles 1–20