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Oligogenic Origin of Differences of Sex Development in Humans

International journal of molecular sciences, 2020-03, Vol.21 (5), p.1809

2020

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Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ( TSHR )

International journal of molecular sciences, 2024-09, Vol.25 (18), p.10032

2024

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Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation

International journal of molecular sciences, 2024-08, Vol.25 (15), p.8473

2024

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NR5A1 /SF-1 Collaborates with Inhibin α and the Androgen Receptor

International journal of molecular sciences, 2024-09, Vol.25 (18), p.10109

2024

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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Frontiers in genetics, 2019-08, Vol.10, p.746-746

2019

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Testicular differentiation factor SF-1 is required for human spleen development

The Journal of clinical investigation, 2014-05, Vol.124 (5), p.2071-2075

2014

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Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency

Pharmaceuticals (Basel, Switzerland), 2018-04, Vol.11 (2), p.37

2018

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Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

Frontiers in endocrinology (Lausanne), 2024-07, Vol.15, p.1367808

2024

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Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

International journal of molecular sciences, 2020-08, Vol.21 (17), p.6185

2020

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A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

Frontiers in endocrinology (Lausanne), 2022-06, Vol.13

2022

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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

PloS one, 2011-05, Vol.6 (5), p.e20178-e20178

2011

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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

PloS one, 2023-07, Vol.18 (7), p.e0287515-e0287515

2023

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Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

Frontiers in endocrinology (Lausanne), 2022-10, Vol.13

2022

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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

PloS one, 2015-11, Vol.10 (11), p.e0142831-e0142831

2015

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Contribution of rare copy number variants to isolated human malformations

PloS one, 2012-10, Vol.7 (10), p.e45530

2012

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Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

PloS one, 2014-08, Vol.9 (8), p.e104838-e104838

2014

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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Cells (Basel, Switzerland), 2024-03, Vol.13 (6), p.524

2024

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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study

Pediatric pulmonology, 2019-06, Vol.54 (6), p.837-846

2019

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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1329-1338

2018

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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

The journal of clinical endocrinology and metabolism, 2023-10, Vol.108 (11), p.e1316-e1328

2023

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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

The Journal of clinical investigation, 2017-03, Vol.127 (3), p.942-953

2017

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Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

The journal of clinical endocrinology and metabolism, 2021-01, Vol.106 (1), p.e152-e170

2021

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Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

The journal of clinical endocrinology and metabolism, 2020-04, Vol.105 (4), p.e1272-e1290

2020

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A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

Sexual development, 2019-06, Vol.13 (2), p.87-91

2019

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Development of Laboratory Investigations in Disorders of Sex Development

Sexual development, 2018-02, Vol.12 (1-3), p.7-18

2018

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Oligogenic Origin of Differences of Sex Development in Humans

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ( TSHR )

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation

NR5A1 /SF-1 Collaborates with Inhibin α and the Androgen Receptor

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Testicular differentiation factor SF-1 is required for human spleen development

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Contribution of rare copy number variants to isolated human malformations

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

Development of Laboratory Investigations in Disorders of Sex Development

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