Associated Papers
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOS.
Meng L et al.
Molecular Human Reproduction, 2023
Persistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).
Du Q et al.
Asian Journal of Andrology, 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
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
Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.
Gorsic LK et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.
Picard JY et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.
Wongprasert H et al.
Journal of Pediatric Urology, 2013
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
Nishi MY et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2011
[Genetics and molecular pathology of anti-Mullerian hormone and its receptor].
Picard JY et al.
Journal De La Societe De Biologie, 2002
[Molecular biology of the persistent Müllerian duct syndrome].
Imbeaud S et al.
Contraception, Fertilite, Sexualite (1992), 1996
AMH and AMH receptor defects in persistent Müllerian duct syndrome.
Josso N et al.
Human Reproduction Update, 0
Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ et al.
Asian Journal of Andrology, 0