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
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Al Sayed Y et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
Maione L et al.
European Journal of Endocrinology, 2018
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Kim YJ et al.
Embo Reports, 2018
29263200 (PubMed )
Supplement: EMBR-19-269-s001.pdf
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-s4.xls › SwissvarFilteredMix
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG et al.
American Journal of Human Genetics, 2010
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