scholarly article | Q13442814 |
P50 | author | Maitane Barasoain | Q50716663 |
Maria Begoña Criado | Q58684336 | ||
P2093 | author name string | Javier González | |
Gorka Barrenetxea | |||
Isabel Arrieta | |||
Mercedes Télez | |||
Iratxe Huerta | |||
Juan Manuel Ramírez | |||
Amaia Domínguez | |||
Eduardo Ortiz-Lastra | |||
Paula Gurtubay | |||
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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox | Q28235115 | ||
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype | Q33539785 | ||
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation | Q33594670 | ||
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 locus | Q34267174 | ||
Examination of factors associated with instability of the FMR1 CGG repeat. | Q34387065 | ||
A nonsense mutation in FMR1 causing fragile X syndrome | Q34694759 | ||
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Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes | Q37194646 | ||
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range | Q37217477 | ||
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus | Q37600444 | ||
Length of uninterrupted CGG repeats determines instability in the FMR1 gene | Q39111985 | ||
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population | Q39813107 | ||
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 syndrome | Q44959699 | ||
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation | Q45283919 | ||
The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes | Q45285212 | ||
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 study | Q46923729 | ||
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 alleles | Q47192550 | ||
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission | Q47314769 | ||
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 females | Q51003946 | ||
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 males | Q54413738 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | single-nucleotide polymorphism | Q501128 |
P304 | page(s) | 110-120 | |
P577 | publication date | 2012-01-02 | |
P1433 | published in | Annals of Human Genetics | Q4767852 |
P1476 | title | Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys | |
P478 | volume | 76 |
Q47899360 | Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? |
Q104139660 | Establishment of FXS-A9 panel with a single human X chromosome from Fragile X syndrome-associated individual |
Q28077015 | Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene |
Q36690750 | Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype |
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