The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. (Q54047243)

24 May 2018

title

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

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24 May 2018

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Reyniers E

1

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24 May 2018

Vits L

2

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24 May 2018

De Boulle K

3

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24 May 2018

Van Roy B

4

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24 May 2018

Van Velzen D

5

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24 May 2018

de Graaff E

6

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24 May 2018

Verkerk AJ

7

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24 May 2018

Jorens HZ

8

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24 May 2018

Darby JK

9

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24 May 2018

Oostra B

10

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24 May 2018

language of work or name

English

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publication date

1 June 1993

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24 May 2018

published in

Nature Genetics

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24 May 2018

volume

4

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24 May 2018

issue

2

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24 May 2018

page(s)

143-146

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24 May 2018

https://scigraph.springernature.com/pub.10.1038/ng0693-143

exact match

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cites work

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0693-143

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

21 January 2018

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Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

21 January 2018

1 reference

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

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Dynamic mutations: a new class of mutations causing human disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0693-143

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

21 January 2018

1 reference

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7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

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7 January 2021

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

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https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

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https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

The marker (X) syndrome: a cytogenetic and genetic analysis.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Phenotypic variation in male-transmitted fragile X: genetic inferences.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

X chromosome imprinting in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Segregation of the fragile X mutation from an affected male to his normal daughter

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Experience with direct molecular diagnosis of fragile X

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7 January 2021

Mental status and fragile X expression in relation to FMR-1 gene mutation.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

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https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Brief report: reverse mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

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%2FNG0693-143

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

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%2FNG0693-143

7 January 2021

Genotype mosaicism in fragile X fetal tissues

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Heritable unstable DNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Mouse DNA 'fingerprints': analysis of chromosome localization and germ-line stability of hypervariable loci in recombinant inbred strains

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Characterization of a highly unstable mouse minisatellite locus: evidence for somatic mutation during early development.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Two brothers with mental retardation discordant for the fragile-X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-143

7 January 2021

Identifiers

DOI

10.1038/NG0693-143

1 reference

24 May 2018

PubMed ID

8348152

1 reference

24 May 2018