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

https://scigraph.springernature.com/pub.10.1007/bf00211019

exact match

0 references

cites work

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

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.

1 reference

12 December 2020

X chromosome imprinting in fragile X syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequency and stability of the fragile X premutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Origin of a regressed myotonic dystrophy allele

1 reference

12 December 2020

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

1 reference

12 December 2020

Experience with direct molecular diagnosis of fragile X

1 reference

12 December 2020

Dynamic mutations: a new class of mutations causing human disease

1 reference

12 December 2020

A father and daughter with fragile X chromosome

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Brief report: reverse mutation in myotonic dystrophy

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00211019

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14 January 2018

PubMed ID

7959688

1 reference

14 January 2018