(Q52008417)

19 April 2018

title

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome. (English)

1 reference

19 April 2018

1 reference

E Mornet

1

1 reference

19 April 2018

C Chateau

2

1 reference

19 April 2018

A Taillandier

3

1 reference

19 April 2018

B Simon-Bouy

4

1 reference

19 April 2018

J L Serre

5

1 reference

19 April 2018

publication date

1 April 1996

1 reference

19 April 2018

published in

Human Genetics

1 reference

19 April 2018

volume

97

1 reference

19 April 2018

issue

4

1 reference

19 April 2018

page(s)

512-515

1 reference

19 April 2018

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

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

12 December 2020

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

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

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

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

Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome

1 reference

12 December 2020

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

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

Precursor arrays for triplet repeat expansion at the fragile X locus

1 reference

12 December 2020

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

1 reference

12 December 2020

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

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

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

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

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

12 December 2020

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses

1 reference

12 December 2020

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

1 reference

12 December 2020

The fragile X premutation in carriers and its effect on mutation size in offspring

1 reference

12 December 2020

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

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

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

1 reference

12 December 2020

Transition from normal to premutated alleles in fragile X syndrome results from a multistep process

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/S004390050083

1 reference

19 April 2018

1 reference

19 April 2018