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

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Prenatal diagnosis - 1 Sept 1995

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez M D, Estivill X

Abstract excerpt

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5' upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Methylation

Share to Mutation

Share to Nerve Tissue Proteins

Share to Polymerase Chain Reaction

Share to Pregnancy

Share to Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 8559749
DOI: 10.1002/pd.1970150903

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.PMID 8559749Read ↗

A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.Semantic proximity Read ↗

Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.Semantic proximity Read ↗

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.Semantic proximity Read ↗

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Semantic proximity Read ↗

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.Semantic proximity Read ↗

Molecular analysis of fragile X syndrome.Semantic proximity Read ↗

Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males.Semantic proximity Read ↗

Fragile-X mental retardation: molecular diagnosis in Argentine patients.Semantic proximity Read ↗

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Semantic proximity Read ↗

Prenatal diagnosis and carrier screening for fragile X by PCR.Semantic proximity Read ↗

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.Semantic proximity Read ↗

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.Semantic proximity Read ↗

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