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

[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Lei Qinghua, Li Jiufeng, Zhou Xianqiong, Zhang Wei

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a patient with primary infertility and repeated failure of assisted reproductive technology. METHODS: Peripheral blood samples of the patient and her husband were collected for the extraction of genomic DNA and clinical exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient was found to harbor compound heterozygous variants of...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Infertility, Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Oocytes

Share to Oogenesis

Source

Identifiers

PMID: 35810437
DOI: 10.3760/cma.j.cn511374-20210316-00234

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case].PMID 35810437Read ↗

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrestSemantic proximity Read ↗

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Semantic proximity Read ↗

Novel PATL2 variants cause female infertility with oocyte maturation defect.Semantic proximity Read ↗

Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation ArrestSemantic proximity Read ↗

Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.Semantic proximity Read ↗

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Semantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures.Semantic proximity Read ↗

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.Semantic proximity Read ↗

PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulationSemantic proximity Read ↗

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