Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

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

Back to search

Article

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

American journal of human genetics - 1 Nov 1994

Hamel B C, Smits A P, de Graaff E, Smeets D F, Schoute F, Eussen B H, Knight S J, Davies K E, Assman-Hulsmans C F, Oostra B A

Abstract excerpt

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected...

Topics

Adolescent
Adult
Base Sequence
Child
Chromosome Fragile Sites
Chromosome Fragility
DNA
Female
Fragile X Syndrome
Humans
In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Intelligence Tests

Male

Middle Aged

Molecular Sequence Data

Pedigree

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 7977354
PMCID: PMC1918338

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7977354-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.PMID 7977354Read ↗

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.Semantic proximity Read ↗

FRAXE mutation analysis in three Spanish families.Semantic proximity Read ↗

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.Semantic proximity Read ↗

FRAXE and mental retardation.Semantic proximity Read ↗

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.Semantic proximity Read ↗

A survey of FRAXE allele sizes in three populations.Semantic proximity Read ↗

Stability and haplotype analysis of the FRAXE region.Semantic proximity Read ↗

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.Semantic proximity Read ↗

Fragile X-linked mental retardation and the difficulties of reverse genetics.Semantic proximity Read ↗

DNA studies of X-linked mental retardation associated with a fragile site at Xq27.Semantic proximity Read ↗

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.Semantic proximity Read ↗

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