Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
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Reproductive Biology, 2025
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
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Human Genome Variation, 2022
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Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.
Patil VA et al.
Pituitary, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
31744909 (PubMed )
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Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Maione L et al.
Human Reproduction (oxford, England), 2019
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
Correa-Silva SR et al.
Journal of Neuroendocrinology, 2018
Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes.
Zernov N et al.
Reproductive Biology and Endocrinology : Rb&e, 2016
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.
Nair S et al.
Clinical Endocrinology, 2016
[GnRH deficiency: new insights from genetics].
Kottler ML et al.
Journal De La Societe De Biologie, 2004
Ala/Thr(201) in extracellular loop 2 and Leu/Phe(290) in transmembrane domain 6 of type 1 frog gonadotropin-releasing hormone receptor confer differential ligand sensitivity and signal transduction.
Seong JY et al.
Endocrinology, 2003
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