(Q35889580)

10 August 2017

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

1 reference

10 August 2017

Hamel BC

1

1 reference

10 August 2017

Smits AP

2

1 reference

10 August 2017

de Graaff E

3

1 reference

10 August 2017

Smeets DF

4

1 reference

10 August 2017

Schoute F

5

1 reference

10 August 2017

Eussen BH

6

1 reference

10 August 2017

Knight SJ

7

1 reference

10 August 2017

Davies KE

8

1 reference

10 August 2017

Assman-Hulsmans CF

9

1 reference

10 August 2017

Oostra BA

10

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 November 1994

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

55

1 reference

10 August 2017

923-931

1 reference

10 August 2017

5

1 reference

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Fragile X genotype characterized by an unstable region of DNA.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Molecular heterogeneity of the fragile X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Fragile site Xq27.3 in a family without mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

Limited size of the fragile X site shown by fluorescence in situ hybridization.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918338

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

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7977354

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

10 August 2017

1 reference