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

[Analysis of CGG repeat instability in germline cells from two male fetuses affected with fragile X syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Duan Ranhui, Luo Shiyu, Huang Wen, Li Haoxian, Peng Ying, Du Qian, Wu Lingqian

Abstract excerpt

OBJECTIVE: To study the pattern of CGG repeat instability within germline cells derived from two male fetuses affected with Fragile X syndrome (FXS). METHODS: The length and methylation status of CGG repeats within the testes of a fetus carrying a full FXS mutation and another fetus carrying mosaicism FXS mutation were analyzed with Southern blotting and AmplideX FMR1 PCR. Immunohistochemistry was also applied...

Read the complete abstract on PubMed

Topics

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

Share to Abortion, Eugenic
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Spermatozoa

Share to Testis

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 27577204
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.005

Genes

FMR1

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

[Analysis of CGG repeat instability in germline cells from two male fetuses affected with fragile X syndrome].PMID 27577204Read ↗

[Tissue heterogeneity analysis of CGG-repeat mutation in two fragile X affected male fetuses].Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.Semantic proximity Read ↗

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.Semantic proximity Read ↗

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.Semantic proximity Read ↗

[Familial fragile X syndrome: A pedigree analysis].Semantic proximity Read ↗

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.Semantic proximity Read ↗

Fragile X syndrome in females - a familial case report and review of the literature.Semantic proximity Read ↗

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

A fragile X case with an amplification/deletion mosaic pattern.Semantic proximity Read ↗

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

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