Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles (Q24610645)

14

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10

Elke Holinski-Feder

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Frank Kooy

object named as

Frank Kooy

11

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Valérie Biancalana

7

object named as

Valérie Biancalana

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author name string

Sarah L Nolin

1

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W Ted Brown

2

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Anne Glicksman

3

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George E Houck

4

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Alice D Gargano

5

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Amy Sullivan

6

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Karen Bröndum-Nielsen

8

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John Longshore

12

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James Macpherson

13

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Gert Matthijs

15

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Francois Rousseau

16

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Peter Steinbach

17

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Marja-Leena Väisänen

18

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Harriet von Koskull

19

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Stephanie L Sherman

American Journal of Human Genetics

20

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language of work or name

English

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publication date

February 2003

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published in

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volume

72

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issue

2

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page(s)

454-64

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cites work

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

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

The fragile X premutation: into the phenotypic fold

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

FMR1 and the fragile X syndrome: human genome epidemiology review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Premature ovarian failure in the fragile X syndrome

27 September 2017

1 reference

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Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

27 September 2017

1 reference

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Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

27 September 2017

1 reference

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Examination of factors associated with instability of the FMR1 CGG repeat.

27 September 2017

1 reference

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Familial transmission of the FMR1 CGG repeat.

27 September 2017

1 reference

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Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X 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=379237

Two new cases of FMR1 deletion associated with mental impairment.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Fragile X gene instability: anchoring AGGs and linked microsatellites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Fragile-X syndrome: unique genetics of the heritable unstable element

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

A de novo deletion in FMR1 in a patient with developmental delay

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Instability of a 550-base pair DNA segment and abnormal methylation 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=379237

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=379237

Fragile X syndrome without CCG amplification has an FMR1 deletion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

DNA methylation represses FMR-1 transcription 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=379237

Prevalence of the fragile X syndrome in African-Americans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Reverse mutations in the fragile X syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379237

Prevalence of fragile X syndrome

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for fragile X syndrome in women of reproductive age

1 reference

12 December 2020

Diagnosis of fragile X syndrome by direct mutation analysis

1 reference

12 December 2020

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1086/367713

1 reference

release_3er6a4ypsrb5rcnfbzveh4edve

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3er6a4ypsrb5rcnfbzveh4edve

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

12529854

1 reference