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Article

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

Human molecular genetics - 1 Nov 1993

Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth A S, Lachiewicz A

Abstract excerpt

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8281165
DOI: 10.1093/hmg/2.11.1973

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.PMID 8281165Read ↗

A de novo deletion in FMR1 in a patient with developmental delay.Semantic proximity Read ↗

Fragile X syndrome phenotype with normal FMR1 gene studies.Semantic proximity Read ↗

Expansion of an intermediate allele of the FMR1 gene in only two generations.Semantic proximity Read ↗

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.Semantic proximity Read ↗

Fragile X syndrome (review).Semantic proximity Read ↗

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.Semantic proximity Read ↗

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.Semantic proximity Read ↗

FMR1 and the fragile X syndrome: human genome epidemiology review.Semantic proximity Read ↗

The fragile-X syndrome after the discovery of the FMR-1 gene. The clinical geneticist faced with the unravelled enigmas and persisting difficulties in genetic counseling.Semantic proximity Read ↗

Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exonSemantic proximity Read ↗

Rare FMR1 gene mutations causing fragile X syndrome: A review.Semantic proximity Read ↗

Fragile X syndrome due to a missense mutation.Semantic proximity Read ↗

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