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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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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

Birth defects research. Part C. Embryo today, 2016-12, Vol.108 (4), p.309-320

2016

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Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

The journal of clinical endocrinology and metabolism, 2019-04, Vol.104 (4), p.1160-1170

2019

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Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

The journal of clinical endocrinology and metabolism, 2008-10, Vol.93 (10), p.4113-4118

2008

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Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women

Clinics (São Paulo, Brazil), 2018-01, Vol.73, p.e86, Article e86

2018

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Cardiopulmonary capacity and muscle strength in transgender women on long-term gender-affirming hormone therapy: a cross-sectional study

British journal of sports medicine, 2022-11, Vol.56 (22), p.1292-1298

2022

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Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5923-5934

2019

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Single and mixed exposure to distinct groups of pesticides suggests endocrine disrupting properties of imidacloprid in zebrafish embryos

Journal of environmental science and health. Part B, Pesticides, food contaminants, and agricultural wastes, 2023, Vol.58 (3), p.217-228

2023

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Effects of clomiphene citrate on male obesity-associated hypogonadism: a randomized, double-blind, placebo-controlled study

International Journal of Obesity, 2018-06, Vol.42 (5), p.953-963

2018

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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

Pediatric nephrology (Berlin, West), 2011-08, Vol.26 (8), p.1311-1315

2011

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Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

Clinics (São Paulo, Brazil), 2023-01, Vol.78, p.100185-100185, Article 100185

2023

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MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female

Advances in experimental medicine and biology, 2011, Vol.707, p.129

2011

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Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development

The Journal of urology, 2014-05, Vol.191 (5), p.1532-1536

2014

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A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

The Journal of steroid biochemistry and molecular biology, 2017-11, Vol.174, p.14-16

2017

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A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma

Sexual development, 2022-01, Vol.16 (1), p.55-63

2022

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Arterial Stiffness in Transgender Men Receiving Long-term Testosterone Therapy

Journal of the Endocrine Society, 2023-03, Vol.7 (5), p.bvad040-bvad040

2023

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Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism

Fertility and sterility, 2007-03, Vol.87 (3), p.627-634

2007

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Obesity and its implications on cerebral circulation and intracranial compliance in severe COVID‐19

Obesity science & practice, 2021-12, Vol.7 (6), p.751-759

2021

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Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Journal of Pediatric Endocrinology and Metabolism, 2015-05, Vol.28 (5-6), p.623

2015

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Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

The journal of clinical endocrinology and metabolism, 2006-10, Vol.91 (10), p.4006-4012

2006

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Effects of endocrine disruptors in the development of the female reproductive tract

Arquivos brasileiros de endocrinologia e metabologia, 2014-03, Vol.58 (2), p.153-161

2014

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Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

Clinical endocrinology (Oxford), 2010-03, Vol.72 (3), p.371-376

2010

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The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Hormone research in paediatrics, 2011-01, Vol.75 (1), p.26-31

2011

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Does the normalization of body weight improve male fertility?

International journal for vitamin and nutrition research, 2021-01, Vol.91 (1-2), p.1-2

2021

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New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women

Cardiopulmonary capacity and muscle strength in transgender women on long-term gender-affirming hormone therapy: a cross-sectional study

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

Single and mixed exposure to distinct groups of pesticides suggests endocrine disrupting properties of imidacloprid in zebrafish embryos

Effects of clomiphene citrate on male obesity-associated hypogonadism: a randomized, double-blind, placebo-controlled study

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female

Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

Arterial Stiffness in Transgender Men Receiving Long-term Testosterone Therapy

Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism

Obesity and its implications on cerebral circulation and intracranial compliance in severe COVID‐19

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

Effects of endocrine disruptors in the development of the female reproductive tract

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Does the normalization of body weight improve male fertility?

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