(Q34141674)

31 July 2017

1 reference

title

FMR1 gene and fragile X syndrome (English)

1 reference

31 July 2017

1 reference

Bardoni B

1

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31 July 2017

Mandel JL

series ordinal

2

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31 July 2017

Fisch GS

series ordinal

3

1 reference

31 July 2017

publication date

1 January 2000

1 reference

American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

97

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31 July 2017

issue

2

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31 July 2017

page(s)

153-163

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Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains

31 July 2017

cites work

1 reference

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Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues

21 January 2018

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Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

21 January 2018

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FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

21 January 2018

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Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

21 January 2018

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Early development, temperament, and functional impairment in autism and fragile X syndrome

21 January 2018

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A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

21 January 2018

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Analysis of domains affecting intracellular localization of the FMRP protein.

21 January 2018

1 reference

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Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein

21 January 2018

1 reference

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Autism is associated with the fragile-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex

21 January 2018

1 reference

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No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Autism is not associated with the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Behavioural and emotional disturbance in fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Is autism associated with the fragile X syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

What is associated with the fragile X syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Screening developmentally disabled male populations for fragile X: the effect of sample size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

CRM1 is an export receptor for leucine-rich nuclear export signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Understanding the molecular basis of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Alternative splicing in the murine and human FXR1 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Characterization of the full fragile X syndrome mutation in fetal gametes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Infantile autism associated with the fragile-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Studies of FRAXA and FRAXE in women with premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The pre-mRNA binding K protein contains a novel evolutionarily conserved motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Syntactic delay and pragmatic deviance in the language of fragile X males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

FMRP is associated to the ribosomes via RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Fragile X (fmr1) mRNA expression is differentially regulated in two adult models of activity-dependent gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Psychometric assessment of families with X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

No marker (X) syndrome in autistic children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Characterization of FMR1 proteins isolated from different tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Ordering of 66 STSs along the entire short arm of human chromosome 17 and chromosome assignment of a transcribed sequence (FMR1L2) homologous to FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Noninvasive test for fragile X syndrome, using hair root analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Leptomycin B is an inhibitor of nuclear export: inhibition of nucleo-cytoplasmic translocation of the human immunodeficiency virus type 1 (HIV-1) Rev protein and Rev-dependent mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Dizygous twinning and premature menopause in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C153%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

10.1002/1096-8628(200022)97:2<153::AID-AJMG7>3.0.CO;2-M

21 January 2018

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DOI

1 reference

31 July 2017

1 reference