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

publié dans: Genetics in Medicine

date de publication: 2012-04-12

langue: anglais

Articles cités 31

Date

Titre

Auteur·ices

2012-01-27

DNA base excision repair: a mechanism of trinucleotide repeat expansion

Samuel H. Wilson
2011

The role of AGG interruptions in the transcription of FMR1 premutation alleles

Flora Tassone
2011-12-01

Advances in understanding fragile X syndrome and related disorders

Frank Kooy
2011-06-30

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

Sarah Nolin
2010-11-01

Mechanisms of trinucleotide repeat instability during human development

Cynthia T McMurray
2010-07-08

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

Flora Tassone, Paul J Hagerman
2010-04-01

The developmental roles of FMRP.
2010-05-01

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
2010-01-07

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

Flora Tassone, Paul J Hagerman
2009-02-21

FMR1: a gene with three faces

Ben A Oostra
2009-01

Advances in the treatment of fragile X syndrome

Jeannie Visootsak, Randi J. Hagerman, David Hessl
2008-05-09

Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease

Cynthia T McMurray
2007-12-28

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

Khaled Amiri
2007-04-22

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

Arne Klungland, Magnar Bjørås, Cynthia T McMurray, Samuel H. Wilson
2005-10-01

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

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Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
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Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
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Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
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Familial transmission of the FMR1 CGG repeat

Pornprot Limprasert
1996-03-01

FMR1 in global populations
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Significance of linkage disequilibrium between the fragile X locus and its flanking markers
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Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations
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Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.
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Length of uninterrupted CGG repeats determines instability in the FMR1 gene
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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
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Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation
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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox,Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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A new look at the statistical model identification

Hirotugu Akaike

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