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

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

American journal of medical genetics - 24 Jul 1998

Orrico A, Galli L, Dotti M T, Plewnia K, Censini S, Federico A

Abstract excerpt

The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normal-sized alleles. These genotypes are more difficult to detect, and if a PCR strategy alone is adopted, they can be...

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 Alleles
Share to Exons

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

Share to Genetic Testing

Share to Mutation

Share to Nerve Tissue Proteins

Share to Polymerase Chain Reaction

Share to Sequence Deletion

Source

Identifiers

PMID: 9714436

Genes

FMR1

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

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.PMID 9714436Read ↗

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.Semantic proximity Read ↗

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

Mosaicism for a full mutation and a normal size allele in two fragile X males.Semantic proximity Read ↗

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.Semantic proximity Read ↗

Mosaicism in Fragile X syndrome: A family case series.Semantic proximity Read ↗

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

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

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

Think about it: FMR1 gene mosaicism.Semantic proximity Read ↗

Finding FMR1 mosaicism in Fragile X syndrome.Semantic proximity Read ↗

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

A cryptic full mutation in a male with a classical fragile X phenotype.Semantic proximity Read ↗

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