(Q33678260)

28 July 2017

title

Clinical, cytogenetic, and molecular analysis of three families with FRAXE (English)

1 reference

28 July 2017

author

Christopher G. Mathew

5

object named as

C G Mathew

1 reference

28 July 2017

A J Barnicoat

1

1 reference

28 July 2017

Q Wang

2

1 reference

28 July 2017

J Turk

3

1 reference

28 July 2017

E Green

4

1 reference

28 July 2017

G Flynn

6

1 reference

28 July 2017

V Buckle

7

1 reference

28 July 2017

M Hirst

8

1 reference

28 July 2017

K Davies

9

1 reference

28 July 2017

M Bobrow

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

13-17

1 reference

A candidate gene for mild mental handicap at the FRAXE fragile site

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

FRAXE and mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Molecular heterogeneity of the fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Fragile site Xq27.3 in a family without mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Experience with direct molecular diagnosis of fragile X

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

The fragile-X syndrome. On the way to a behavioural phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Characterisation of a new rare fragile site easily confused with the fragile X

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050840

An efficient salt-chloroform extraction of DNA from blood and tissues

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032643

12 December 2020

inferred from PubMed ID database lookup

The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032643

12 December 2020

inferred from PubMed ID database lookup

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032643

12 December 2020

inferred from PubMed ID database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/ujxpzpbczrhynncoassbxosxla

30 July 2022

release_ujxpzpbczrhynncoassbxosxla

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ujxpzpbczrhynncoassbxosxla

30 July 2022

https://api.fatcat.wiki/v0/release/ujxpzpbczrhynncoassbxosxla

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/ujxpzpbczrhynncoassbxosxla

1 reference

30 July 2022