(Q33594675)

28 July 2017

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations' (English)

1 reference

28 July 2017

J. N. Macpherson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453431

28 September 2022

D. L. Nelson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453431

28 September 2022

P. A. Jacobs

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453431

28 September 2022

language of work or name

English

0 references

publication date

1 November 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453431

https://europepmc.org/articles/PMC1016176?pdf=render

28 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453431

Journal of Medical Genetics

28 September 2022

published in

1 reference

28 July 2017

29

1 reference

28 July 2017

11

1 reference

28 July 2017

802-806

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

The frequency of the fragile X chromosome among schoolchildren in Coventry

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

A simple salting out procedure for extracting DNA from human nucleated cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

Genotype prediction in the fragile X syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

Fifth international workshop on fragile X and X-linked mental retardation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016176

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1453431

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A reinvestigation of thirty three fragile(X) families using probe StB12.3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1453431

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.11.802

1 reference

28 July 2017

1 reference

28 July 2017

1 reference