Associated Papers
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1
"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".
Yang X et al.
Human Genetics, 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Mikhael S 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
Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.
Gorsic LK et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.
Alvaro Mercadal B et al.
Human Reproduction (oxford, England), 2015
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Le Gallo M et al.
Nature Genetics, 2012
23104009 (PubMed )
Supplement: NIHMS412622-supplement-7.xls › Supplementary_Table_16
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
Select a paper to view details