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Article

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

Fertility and sterility - 1 Oct 2014

Izumi Yoko, Suzuki Erina, Kanzaki Susumu, Yatsuga Shuichi, Kinjo Saori, Igarashi Maki, Maruyama Tetsuo, Sano Shinichiro, Horikawa Reiko, Sato Naoko, Nakabayashi Kazuhiko, Hata Kenichiro, Umezawa Akihiro, Ogata Tsutomu, Yoshimura Yasunori, Fukami Maki

Abstract excerpt

OBJECTIVE: To clarify the molecular basis of hypogonadotropic hypogonadism (HH). DESIGN: Genome-wide copy number analysis by array-based comparative genomic hybridization and systematic mutation screening of 29 known causative genes by next-generation sequencing, followed by in silico functional assessment and messenger RNA/DNA analyses of the mutants/variants. SETTING: Research institute. PATIENT(S): Fifty-eight...

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Source

Identifiers

PMID: 25064402
DOI: 10.1016/j.fertnstert.2014.06.017

Genes

IHH
FGFR1
SOX3

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.

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