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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

The journal of clinical endocrinology and metabolism, 2018-03, Vol.103 (3), p.1005-1014

2018

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The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age

Diabetology and metabolic syndrome, 2023-02, Vol.15 (1), p.15-15, Article 15

2023

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KISS1R Intracellular Trafficking and Degradation: Effect of the Arg386Pro Disease-Associated Mutation

Endocrinology (Philadelphia), 2011-04, Vol.152 (4), p.1616-1626

2011

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Targeted massively parallel sequencing for congenital generalized lipodystrophy

Archives of Endocrinology and Metabolism, 2021-05, Vol.64 (5), p.559-566

2021

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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

The journal of clinical endocrinology and metabolism, 2014-06, Vol.99 (6), p.E1097-E1103

2014

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Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA

Archives of Endocrinology and Metabolism, 2024-06, Vol.68

2024

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Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

Clinical genetics, 2023-04, Vol.103 (4), p.434-447

2023

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1355-P: Association between Glycated Hemoglobin and Glycemia during First Trimester of Pregnancy

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1)

2020

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1356-P: Can First-Trimester Glycated Hemoglobin Predict Gestational Diabetes Diagnosis?

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1)

2020

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Maturity-Onset Diabetes of the Young (MODY) in Brazil: establishment of a national registry and appraisal of available genetic and clinical data

Diabetes research and clinical practice, 2017-01, Vol.123, p.134-142

2017

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Cyclosporin safety in a simplified rat brain tumor implantation model

Arquivos de neuro-psiquiatria, 2012-01, Vol.70 (1), p.52-58

2012

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Targeted massively parallel sequencing for congenital generalized lipodystrophy

Archives of Endocrinology and Metabolism, 2020-09

2020

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Role of Kisspeptin/GPR54 System in Human Reproductive Axis

Frontiers of hormone research, 2010, Vol.39, p.13-24

2010

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Targeted sequencing identifies novel variants in common and rare MODY genes

Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e962-n/a

2019

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Clinical and molecular update of a large cohort followed by the Brazilian MODY multicenter study group (BRASMODY)

Diabetology and metabolic syndrome, 2015-11, Vol.7 (91), p.A212-A212, Article A212

2015

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Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Arquivos brasileiros de endocrinologia e metabologia, 2012-11, Vol.56 (8), p.519-524

2012

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Factors Determining Normal Adult Height in Girls with Gonadotropin-Dependent Precocious Puberty Treated with Depot Gonadotropin-Releasing Hormone Analogs

The journal of clinical endocrinology and metabolism, 2008-07, Vol.93 (7), p.2662-2669

2008

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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age

KISS1R Intracellular Trafficking and Degradation: Effect of the Arg386Pro Disease-Associated Mutation

Targeted massively parallel sequencing for congenital generalized lipodystrophy

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

1355-P: Association between Glycated Hemoglobin and Glycemia during First Trimester of Pregnancy

1356-P: Can First-Trimester Glycated Hemoglobin Predict Gestational Diabetes Diagnosis?

Maturity-Onset Diabetes of the Young (MODY) in Brazil: establishment of a national registry and appraisal of available genetic and clinical data

Cyclosporin safety in a simplified rat brain tumor implantation model

Targeted massively parallel sequencing for congenital generalized lipodystrophy

Role of Kisspeptin/GPR54 System in Human Reproductive Axis

Targeted sequencing identifies novel variants in common and rare MODY genes

Clinical and molecular update of a large cohort followed by the Brazilian MODY multicenter study group (BRASMODY)

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Factors Determining Normal Adult Height in Girls with Gonadotropin-Dependent Precocious Puberty Treated with Depot Gonadotropin-Releasing Hormone Analogs

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