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Article

A de novo deletion in FMR1 in a patient with developmental delay.

Human molecular genetics - 1 Sept 1994

Gu Y, Lugenbeel K A, Vockley J G, Grody W W, Nelson D L

Abstract excerpt

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Topics

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Share to Chromosome Mapping
Share to Developmental Disabilities
Share to DNA Primers
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Oligodeoxyribonucleotides

Share to Repetitive Sequences, Nucleic Acid

Share to Sequence Deletion

Source

Identifiers

PMID: 7530551
DOI: 10.1093/hmg/3.9.1705

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo deletion in FMR1 in a patient with developmental delay.PMID 7530551Read ↗

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

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

FMR1 premutation as a rare cause of late onset ataxiaSemantic proximity Read ↗

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.Semantic proximity Read ↗

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.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 premutation in females diagnosed with multiple sclerosis.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 ↗

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

MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.Semantic proximity Read ↗

A de novo mutation affecting human TrkB associated with severe obesity and developmental delaySemantic proximity Read ↗

De novo autosomal dominant mutation in SYNGAP1.Semantic proximity Read ↗

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