Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

scientific article published on 2 January 2012

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/J.1469-1809.2011.00696.X
P698PubMed publication ID22211843
P5875ResearchGate publication ID51974971

P50authorMaitane BarasoainQ50716663
Maria Begoña CriadoQ58684336
P2093author name stringJavier González
Gorka Barrenetxea
Isabel Arrieta
Mercedes Télez
Iratxe Huerta
Juan Manuel Ramírez
Amaia Domínguez
Eduardo Ortiz-Lastra
Paula Gurtubay
P2860cites workExpansion of the fragile X CGG repeat in females with premutation or intermediate allelesQ24610645
Facile FMR1 mRNA structure regulation by interruptions in CGG repeatsQ24801535
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxQ28235115
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeQ28273791
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotypeQ33539785
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationQ33594670
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Q34112017
An n-allele model for progressive amplification in the FMR1 locusQ34267174
Examination of factors associated with instability of the FMR1 CGG repeat.Q34387065
A nonsense mutation in FMR1 causing fragile X syndromeQ34694759
XLMR genes: update 2007.Q34736415
Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypesQ37194646
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size rangeQ37217477
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locusQ37600444
Length of uninterrupted CGG repeats determines instability in the FMR1 geneQ39111985
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American populationQ39813107
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.Q39961107
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?Q43961143
Fragile X genotype characterized by an unstable region of DNA.Q43980470
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndromeQ44959699
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardationQ45283919
The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypesQ45285212
Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.Q45986883
FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.Q46146586
Obstetrical and gynecological complications in fragile X carriers: a multicenter studyQ46923729
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome allelesQ47192550
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmissionQ47314769
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.Q48008500
Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier femalesQ51003946
A new insight into fragile X syndrome among Basque population.Q51939732
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.Q51975377
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.Q52008919
Evolutionary dynamics of the FMR1 locus.Q52015413
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.Q52025538
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.Q52032643
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed malesQ54413738
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectsingle-nucleotide polymorphismQ501128
P304page(s)110-120
P577publication date2012-01-02
P1433published inAnnals of Human GeneticsQ4767852
P1476titleSingle nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys
P478volume76

Reverse relations

cites work (P2860)
Q47899360Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
Q104139660Establishment of FXS-A9 panel with a single human X chromosome from Fragile X syndrome-associated individual
Q28077015Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene
Q36690750Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype

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