Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. (Q55692015)

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24 February 2020

title

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles (English)

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1

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24 February 2020

author name string

Sachin Sah

2

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24 February 2020

Anne Glicksman

3

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24 February 2020

Stephanie L Sherman

4

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24 February 2020

Emily Allen

5

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24 February 2020

Elizabeth Berry-Kravis

6

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24 February 2020

Flora Tassone

7

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24 February 2020

Carolyn Yrigollen

8

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24 February 2020

Amy Cronister

9

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24 February 2020

Marcia Jodah

10

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24 February 2020

Nicole Ersalesi

11

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24 February 2020

Carl Dobkin

12

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24 February 2020

W Ted Brown

13

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24 February 2020

Raghav Shroff

14

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24 February 2020

Gary J Latham

15

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24 February 2020

Andrew G Hadd

16

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24 February 2020

language of work or name

English

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publication date

26 February 2013

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American Journal of Medical Genetics

24 February 2020

published in

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24 February 2020

volume

161A

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24 February 2020

issue

4

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page(s)

771-778

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Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Expansion of an FMR1 grey-zone allele to a full mutation in two generations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Fragile X genotype characterized by an unstable region of DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

27 July 2018

1 reference

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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici

12 August 2018

1 reference

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A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.

12 August 2018

1 reference

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Fragile X syndrome carrier screening in the prenatal genetic counseling setting.

12 August 2018

1 reference

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

FMR1 and the fragile X syndrome: human genome epidemiology review

12 August 2018

1 reference

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12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396070

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

12 August 2018

1 reference

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12 August 2018

Identifiers

DOI

10.1002/AJMG.A.35833

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24 February 2020

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24 February 2020

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