(Q47366806)

14 January 2018

title

Apparent regression of the CGG repeat in FMR1 to an allele of normal size (English)

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14 January 2018

author name string

L Vits

1

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14 January 2018

K De Boulle

2

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14 January 2018

E Reyniers

3

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14 January 2018

I Handig

4

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14 January 2018

J K Darby

5

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14 January 2018

B Oostra

6

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14 January 2018

P J Willems

7

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14 January 2018

publication date

1 November 1994

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14 January 2018

published in

Human Genetics

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14 January 2018

volume

94

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14 January 2018

issue

5

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14 January 2018

page(s)

523-526

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14 January 2018

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.

cites work

1 reference

12 December 2020

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

1 reference

12 December 2020

Two brothers with mental retardation discordant for the fragile-X syndrome.

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12 December 2020

X chromosome imprinting in fragile X syndrome

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12 December 2020

Segregation of the fragile X mutation from an affected male to his normal daughter

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12 December 2020

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

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12 December 2020

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

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12 December 2020

Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation

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12 December 2020

Frequency and stability of the fragile X premutation.

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12 December 2020

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

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12 December 2020

Origin of a regressed myotonic dystrophy allele

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12 December 2020

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

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12 December 2020

Experience with direct molecular diagnosis of fragile X

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12 December 2020

Dynamic mutations: a new class of mutations causing human disease

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12 December 2020

A father and daughter with fragile X chromosome

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12 December 2020

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

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12 December 2020

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate

1 reference

12 December 2020

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

12 December 2020

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

1 reference

12 December 2020

Phenotypic variation in male-transmitted fragile X: genetic inferences.

1 reference

12 December 2020

Fragile X trait in a large kindred: transmission also through normal males

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12 December 2020

Brief report: reverse mutation in myotonic dystrophy

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12 December 2020

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

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

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12 December 2020

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

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12 December 2020

Identifiers

DOI

10.1007/BF00211019

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14 January 2018

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14 January 2018