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
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
Butz H et al.
Human Genetics, 2021
Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary Syndrome.
Gorsic LK et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202
Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women.
Kevenaar ME et al.
Human Reproduction (oxford, England), 2007
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