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

Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.

Clinical genetics - 1 Mar 1993

Mornet E, Jokic M, Bogyo A, Tejada I, Deluchat C, Boué J, Boué A

Abstract excerpt

The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age-dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Age Factors
Share to Base Composition

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

Share to Blotting, Southern

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 8098999
DOI: 10.1111/j.1399-0004.1993.tb04462.x

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 · 8 closest

Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.PMID 8098999Read ↗

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.Semantic proximity Read ↗

The fragile X premutation in carriers and its effect on mutation size in offspring.Semantic proximity Read ↗

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.Semantic proximity Read ↗

Fragile X: a family of disorders.Semantic proximity Read ↗

Diagnosis and management of fragile X syndrome.Semantic proximity Read ↗

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

Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: an update with AGG interspersion analysis.Semantic proximity Read ↗

Rater reliability of fragile X mutation size estimates: a multilaboratory analysis.Semantic proximity Read ↗

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