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

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Fertility and sterility - 1 Sept 2014

Beneduzzi Daiane, Trarbach Ericka B, Min Le, Jorge Alexander A L, Garmes Heraldo M, Renk Alessandra Covallero, Fichna Marta, Fichna Piotr, Arantes Karina A, Costa Elaine M F, Zhang Anna, Adeola Oluwaseun, Wen Junping, Carroll Rona S, Mendonça Berenice B, Kaiser Ursula B, Latronico Ana Claudia, Silveira Letícia F G

Abstract excerpt

OBJECTIVE: To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP). DESIGN: Molecular analysis and in vitro experiments correlated with phenotype. SETTING: Academic medical center. PATIENT(S): A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP. INTERVENTION(S): GNRHR coding region was...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to COS Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Genetic Association Studies

Share to Growth Disorders

Share to Puberty, Delayed

Share to Receptors, LHRH

Source

Open in PubMed Open full text

Identifiers

PMID: 25016926
DOI: 10.1016/j.fertnstert.2014.05.044
PMCID: PMC4149947

Genes

GNRHR
IHH

Variants

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

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.PMID 25016926Read ↗

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.Semantic proximity Read ↗

GnRH receptor mutations in isolated gonadotropic deficiency.Semantic proximity Read ↗

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.Semantic proximity Read ↗

[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].Semantic proximity Read ↗

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literatureSemantic proximity Read ↗

Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.Semantic proximity Read ↗

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.Semantic proximity Read ↗

Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.Semantic proximity Read ↗

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.Semantic proximity Read ↗

Gonadotropin-releasing hormone receptor mutation as a cause of pubertal delay.Semantic proximity Read ↗

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.Semantic proximity Read ↗

Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other GenesSemantic proximity Read ↗

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