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Article

Genotype-phenotype relationships in fragile X syndrome: a family study.

American journal of human genetics - 1 Nov 1993

Loesch D Z, Huggins R, Hay D A, Gedeon A K, Mulley J C, Sutherland G R

Abstract excerpt

Relationships between the measures of intellectual and physical status in the fragile X syndrome and the size of amplification of the fragile X-specific fragment, equivalent to the number of CCG repeats within the FMR1 locus, were studied by a maximum-likelihood scoring technique for analysis of pedigree data. This allows for estimation of random effects (genetic and environmental variance) concurrently with...

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

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Source

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Identifiers

PMID: 8213832
PMCID: PMC1682311

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.

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Genotype-phenotype relationships in fragile X syndrome: a family study.PMID 8213832Read ↗

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A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome.Semantic proximity Read ↗

Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis.Semantic proximity Read ↗

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.Semantic proximity Read ↗

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Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.Semantic proximity Read ↗

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Semantic proximity Read ↗

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