Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.
Gaikwad AS et al.
Ebiomedicine, 2025
Androgen insensitivity and the evolving genetic heterogeneity.
Hornig N et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
Germline variants in CDKN2A wild-type melanoma prone families.
Iversen GT et al.
Molecular Oncology, 2025
Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.
Novák J et al.
Basic and Clinical Andrology, 2024
Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations.
Koyama S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.
Nurminen R et al.
Scientific Reports, 2024
Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development.
Bergougnoux A et al.
Endocrine Connections, 2023
Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.
Rocca MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
A hotspot for posttranslational modifications on the androgen receptor dimer interface drives pathology and anti-androgen resistance.
Alegre-Martí A et al.
Science Advances, 2023
Yeast-based evolutionary modeling of androgen receptor mutations and natural selection.
Zhang H et al.
Plos Genetics, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
Evaluation of Darolutamide (ODM201) Efficiency on Androgen Receptor Mutants Reported to Date in Prostate Cancer Patients.
Lallous N et al.
Cancers, 2021
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.
Zhu H et al.
Orphanet Journal of Rare Diseases, 2021
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Rossetti R et al.
Frontiers in Endocrinology, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.
Goldstein JB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
[Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome].
Kalinchenko NY et al.
Problemy Endokrinologii, 2019
Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.
Jiménez-Panizo A et al.
Endocrine-related Cancer, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Structure of the homodimeric androgen receptor ligand-binding domain.
Nadal M et al.
Nature Communications, 2017
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
Petroli RJ et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
Lucas-Herald A et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
Kalfa N et al.
Plos One, 2013
Androgen insensitivity syndrome.
Hughes IA et al.
Seminars in Reproductive Medicine, 2012
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia.
Hellmann P et al.
Archives of Disease in Childhood, 2012
Androgen insensitivity syndrome: a review.
Batista RL et al.
Archives of Endocrinology and Metabolism, 0