Associated Papers
A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.
Tsoy UA et al.
Neuroendocrinology, 2025
Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.
Stuckey BGA et al.
Genes, 2023
AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.
Brunello FG et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species.
Mullen RD et al.
Developmental Biology, 2019
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Malone SA et al.
Elife, 2019
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
Fernández-Cancio M et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
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
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ et al.
Asian Journal of Andrology, 0