(Q51996767)

19 April 2018

title

Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. (English)

1 reference

19 April 2018

author name string

Brown TC

1

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19 April 2018

Tarleton JC

2

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19 April 2018

Go RC

3

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19 April 2018

Longshore JW

4

1 reference

19 April 2018

Descartes M

5

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19 April 2018

publication date

1 December 1997

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

73

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19 April 2018

issue

4

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19 April 2018

page(s)

447-455

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19 April 2018

Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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Identification of the gene FMR2, associated with FRAXE mental retardation

21 January 2018

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Origins of the fragile X syndrome mutation

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Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.

21 January 2018

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 January 2018

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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

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Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

21 January 2018

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

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Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

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FRAXE and mental retardation

21 January 2018

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Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

21 January 2018

1 reference

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The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

21 January 2018

1 reference

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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

21 January 2018

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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

21 January 2018

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

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Population incidence and segregation ratios in the Martin-Bell syndrome.

21 January 2018

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Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

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A survey of FRAXE allele sizes in three populations.

21 January 2018

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Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

21 January 2018

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Association of fragile X syndrome with delayed replication of the FMR1 gene

21 January 2018

1 reference

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Precursor arrays for triplet repeat expansion at the fragile X locus

21 January 2018

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Evidence of founder chromosomes in fragile X syndrome

21 January 2018

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

21 January 2018

1 reference

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Prevalence of fragile X syndrome

21 January 2018

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10.1002/(SICI)1096-8628(19971231)73:4<447::AID-AJMG14>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018