Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.

Yi chuan = Hereditas - 20 Oct 2022

Wang Shan-Shan, Zhao Wan-Yi, Wu Hui-Xiao, Shu Meng, Yuan Jia-Xin, Fang Li, Xu Chao

Abstract excerpt

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare endocrine disease characterized by gonadal dysplasia. According to whether the sense of smell is affected, this disorder is classified into Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH). In this study, we reported a case of nIHH patient and explored the pathogenic mechanism of FGFR1 in nIHH. A FGFR1 variant (c.2008G>A,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Gonadotropin-Releasing Hormone

Share to Hypogonadism

Share to Kallmann Syndrome

Share to Mutation

Share to Receptor, Fibroblast Growth Factor, Type 1

Source

Identifiers

PMID: 36384729
DOI: 10.16288/j.yczz.22-196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.PMID 36384729Read ↗

Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism.Semantic proximity Read ↗

Diagnosis and treatment analysis of a case of idiopathic hypogonadotropic hypogonadism caused by NSMF gene mutation.Semantic proximity Read ↗

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.Semantic proximity Read ↗

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Semantic proximity Read ↗

Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.Semantic proximity Read ↗

A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene.Semantic proximity Read ↗

A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.Semantic proximity Read ↗

Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.Semantic proximity Read ↗

[Association of the extra-gonadal manifestations with different pathogenic gene mutations in male patients with congenital hypogonadotropic hypogonadism].Semantic proximity Read ↗

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.Semantic proximity Read ↗

The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report.Semantic proximity Read ↗

[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.