Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation (Q33595334)

28 July 2017

title

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation (English)

1 reference

28 July 2017

1 reference

B A Oostra

1

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28 July 2017

P B Jacky

series ordinal

2

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28 July 2017

W T Brown

series ordinal

3

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28 July 2017

F Rousseau

series ordinal

4

1 reference

28 July 2017

language of work or name

English

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publication date

1 May 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

5

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28 July 2017

page(s)

410-413

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Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

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=1016379

Physical mapping across the fragile X: hypermethylation and clinical expression 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=1016379

The fragile X: progress toward solving the puzzle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

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=1016379

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

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=1016379

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of 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=1016379

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=1016379

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

Polymerase chain reaction analysis of fragile X mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

On some technical aspects of direct DNA diagnosis 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=1016379

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016379

DNA methylation represses FMR-1 transcription 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=1016379

Direct diagnosis by DNA analysis of the fragile X syndrome of 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=1016379

Prenatal diagnosis of fragile X syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8100582

12 December 2020

inferred from PubMed ID database lookup

Adjuvant systemic therapy for early breast cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8100582

12 December 2020

inferred from PubMed ID database lookup

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8100582

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.30.5.410

1 reference

release_gfvw2vedafg63f33n2d4fc4n3a

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gfvw2vedafg63f33n2d4fc4n3a

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1016379

1 reference

28 July 2017

1 reference