(Q48964703)

17 February 2018

title

Characterization of the full fragile X syndrome mutation in fetal gametes. (English)

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17 February 2018

1 reference

Malter HE

1

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17 February 2018

Iber JC

2

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17 February 2018

Willemsen R

3

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17 February 2018

de Graaff E

4

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17 February 2018

Tarleton JC

5

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17 February 2018

Leisti J

6

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17 February 2018

Warren ST

7

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17 February 2018

Oostra BA

8

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17 February 2018

language of work or name

English

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publication date

1 February 1997

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17 February 2018

published in

Nature Genetics

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17 February 2018

volume

15

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17 February 2018

issue

2

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17 February 2018

page(s)

165-169

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17 February 2018

https://scigraph.springernature.com/pub.10.1038/ng0297-165

exact match

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cites work

Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

Advances in molecular analysis of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Genotype mosaicism in fragile X fetal tissues

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Trinucleotide repeat instability: when and where?

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Programmed demethylation in CpG islands during human fetal development.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Characterization of FMR1 proteins isolated from different tissues

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Enhanced Fmr-1 expression in testis.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

On the parental origin of de novo mutation in man.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

DNA methylation in early development

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

1 reference

https://api.crossref.org/works/10.1038%2FNG0297-165

7 January 2021

Identifiers

DOI

10.1038/NG0297-165

1 reference

17 February 2018

1 reference

17 February 2018