Associated Papers
A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.
Uslu IN et al.
Current Issues in Molecular Biology, 2025
Influence of androgen receptor on bone health in transgender adults: insights from the COMET study.
Ceolin C et al.
Journal of Endocrinological Investigation, 2025
Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.
Rocca MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
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
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Akcan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.
Çakır AY et al.
Turkish Journal of Medical Sciences, 2022
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2022
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
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Hage M et al.
Andrologia, 2021
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.
Rocca MS et al.
Journal of Assisted Reproduction and Genetics, 2020
Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes.
Landero-Huerta DA et al.
Frontiers in Cell and Developmental Biology, 2020
Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review.
Fiorini A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2020
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
Mavros CF et al.
Bmc Medical Genetics, 2018
Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias.
Acar S et al.
Hormones (athens, Greece), 2017
Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?
Valente U et al.
Scientific Reports, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
Phelan N et al.
European Journal of Endocrinology, 2015
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
Akcay T et al.
Andrology, 2014
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
Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.
Akella RR
Indian Journal of Endocrinology and Metabolism, 0
Androgen insensitivity syndrome: a review.
Batista RL et al.
Archives of Endocrinology and Metabolism, 0
Utility of a Commercially Available Blood Steroid Profile in Endocrine Practice.
Sarathi V et al.
Indian Journal of Endocrinology and Metabolism, 0