(Q24517881)

2 July 2017

FRAXE and mental retardation (English)

1 reference

2 July 2017

Mulley JC

1

1 reference

2 July 2017

Yu S

2

1 reference

2 July 2017

Loesch DZ

3

1 reference

2 July 2017

Hay DA

4

1 reference

2 July 2017

Donnelly A

5

1 reference

2 July 2017

Gedeon AK

6

1 reference

2 July 2017

Carbonell P

7

1 reference

2 July 2017

López I

8

1 reference

2 July 2017

Glover G

9

1 reference

2 July 2017

Gabarrón I

10

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 March 1995

1 reference

Journal of Medical Genetics

2 July 2017

1 reference

2 July 2017

32

1 reference

2 July 2017

162-169

1 reference

2 July 2017

3

1 reference

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

2 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Genotype-phenotype relationships in fragile X syndrome: a family study.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

A linkage map of microsatellite markers on the human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Fragile site Xq27.3 in a family without mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Experience with direct molecular diagnosis of fragile X

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Neuropsychological dimensions of the fragile X syndrome: support for a non-dominant hemisphere dysfunction hypothesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Somatic instability of CTG repeat in myotonic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

Individual variation and specific cognitive deficits in the fra(X) syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050310

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

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Retreat of the triplet repeat?

1 reference

12 December 2020

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

1 reference

12 December 2020

Transmission of fragile (X) (q27) site from a male

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Evidence of founder chromosomes in fragile X syndrome

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

Crossref

https://api.crossref.org/works/10.1136%2FJMG.32.3.162

7 January 2021

inferred from DOI database lookup

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

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.32.3.162

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.32.3.162

1 reference

2 July 2017

0 references

1 reference