(Q33677257)

28 July 2017

title

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene (English)

1 reference

Xavier Estivill i Pallejà

28 July 2017

1 reference

6

1 reference

28 July 2017

Milà M

1

1 reference

28 July 2017

Castellví-Bel S

2

1 reference

28 July 2017

Sánchez A

3

1 reference

28 July 2017

Lázaro C

4

1 reference

28 July 2017

Villa M

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

338-340

1 reference

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

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=1050587

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

Two new cases of FMR1 deletion associated with mental impairment.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

Absence of expression of the FMR-1 gene 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=1050587

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

Translational suppression by trinucleotide repeat expansion at FMR1.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050587

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.4.338

1 reference

28 July 2017

1 reference

28 July 2017

1 reference