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New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

European journal of endocrinology, 2019-08, Vol.181 (2), p.103-119

2019

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Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

Archives of Endocrinology and Metabolism, 2023-01, Vol.67 (1), p.126-135

2023

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X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63536-n/a

2024

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SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.592-598

2023

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Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center

Archives of Endocrinology and Metabolism, 2024-01, Vol.68

2024

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Initial evidence for hypothalamic gliosis in children with obesity by quantitative T2 MRI and implications for blood oxygen‐level dependent response to glucose ingestion

Pediatric obesity, 2019-02, Vol.14 (2), p.e12486-n/a

2019

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Hyperprolactinemia in Children and Adolescents with Use of Risperidone: Clinical and Molecular Genetics Aspects

Journal of child and adolescent psychopharmacology, 2015-12, Vol.25 (10), p.738-748

2015

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Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

São Paulo medical journal, 2022, Vol.141 (4), p.e2022281-e2022281

2022

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A group of Brazilian Turner syndrome patients: Better quality of life than the control group

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2196-2201

2019

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Mutation update for the NR5A1 gene involved in DSD and infertility

Human mutation, 2020-01, Vol.41 (1), p.58-68

2020

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Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(1), , pp.19-23

2021

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Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Journal of epidemiology, 2017-06, Vol.27 (6), p.265-273

2017

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Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

PloS one, 2020-10, Vol.15 (10), p.e0240795-e0240795

2020

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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

International journal of molecular sciences, 2022-12, Vol.24 (1), p.494

2022

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Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21‐hydroxylase enzyme deficiency

International journal of clinical practice (Esher), 2021-07, Vol.75 (7), p.e14233-n/a

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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Physical training over 6 months is associated with improved changes in phase angle, body composition, and blood glucose in healthy young males

American journal of human biology, 2019-09, Vol.31 (5), p.e23275-n/a

2019

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Predictors of performance on world-level arm wrestlers

Journal of human sport and exercise, 2024-08, Vol.19 (4), p.1160-1172

2024

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Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Clinical endocrinology (Oxford), 2022-02, Vol.96 (2), p.165-174

2022

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Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years

Jornal de pediatria, 2024-05, Vol.100 (3), p.277-282

2024

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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

International Journal of Endocrinology, 2016-01, Vol.2016 (2016), p.509-518-057

2016

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Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy

Archives of Endocrinology and Metabolism, 2023-01, Vol.67 (1), p.64

2023

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Central precocious puberty: revisiting the diagnosis and therapeutic management

Archives of Endocrinology and Metabolism, 2016-04, Vol.60 (2), p.163-172

2016

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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Human mutation, 2018-01, Vol.39 (1), p.114-123

2018

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Association between muscle‐localized bioelectrical impedance analysis parameters and performance in a multi‐set exercise on the isokinetic dynamometer in young women

European journal of sport science, 2024-09, Vol.24 (9), p.1319-1327

2024

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New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center

Initial evidence for hypothalamic gliosis in children with obesity by quantitative T2 MRI and implications for blood oxygen‐level dependent response to glucose ingestion

Hyperprolactinemia in Children and Adolescents with Use of Risperidone: Clinical and Molecular Genetics Aspects

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

A group of Brazilian Turner syndrome patients: Better quality of life than the control group

Mutation update for the NR5A1 gene involved in DSD and infertility

Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review

Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21‐hydroxylase enzyme deficiency

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

Physical training over 6 months is associated with improved changes in phase angle, body composition, and blood glucose in healthy young males

Predictors of performance on world-level arm wrestlers

Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy

Central precocious puberty: revisiting the diagnosis and therapeutic management

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Association between muscle‐localized bioelectrical impedance analysis parameters and performance in a multi‐set exercise on the isokinetic dynamometer in young women

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