Associated Papers
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations.
Li S et al.
Reproductive Sciences (thousand Oaks, Calif.), 2021
Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
Men M et al.
Molecular Genetics & Genomic Medicine, 2021
Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.
Nakamura IT et al.
Npj Precision Oncology, 2021
34272467 (PubMed )
Supplement: 41698_2021_204_MOESM3_ESM.xlsx › Supplementary_Data_1
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Men M et al.
Fertility and Sterility, 2020
Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations.
Li S et al.
International Journal of Endocrinology, 2020
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.
Zhao Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
Sarfati J et al.
European Journal of Endocrinology, 2013
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
Francou B et al.
Plos One, 2011
22031817 (PubMed )
Supplement: pone.0025614.s005.doc
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