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Article

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

Journal of medical genetics - 1 Sept 2001

Hegde M R, Chong B, Fawkner M, Lambiris N, Peters H, Kenneson A, Warren S T, Love D R, McGaughran J

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11565550
DOI: 10.1136/jmg.38.9.624
PMCID: PMC1734938

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Related research

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Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.PMID 11565550Read ↗

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.Semantic proximity Read ↗

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

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.Semantic proximity Read ↗

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

Apparent FMR1 allele instability in non-fragile X males.Semantic proximity Read ↗

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

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.Semantic proximity Read ↗

No detection of atypical one-base deletion of CALR exon 9 with fragment analysis: A molecular trap to avoid.Semantic proximity Read ↗

Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.Semantic proximity Read ↗

False-negative CALR mutation in a suspected myeloproliferative neoplasm: identification, resolution and corrective action.Semantic proximity Read ↗

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

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.Semantic proximity Read ↗

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