Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. (Q35194923)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213810%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome (English)

1 reference

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27 October 2019

1 reference

A McConkie-Rosell

1

1 reference

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27 October 2019

A M Lachiewicz

2

1 reference

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27 October 2019

G A Spiridigliozzi

3

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27 October 2019

J Tarleton

4

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27 October 2019

S Schoenwald

5

1 reference

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27 October 2019

M C Phelan

6

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27 October 2019

P Goonewardena

7

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27 October 2019

X Ding

8

1 reference

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27 October 2019

W T Brown

9

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27 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213810%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

53

1 reference

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27 October 2019

issue

4

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27 October 2019

page(s)

800-809

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213810%20AND%20SRC:MED&resulttype=core&format=json

Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation.

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition

28 July 2018

1 reference

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Testicular volume during adolescence. Cross-sectional and longitudinal studies

28 July 2018

1 reference

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Learning disabilities and attentional problems in boys with the fragile X syndrome.

28 July 2018

1 reference

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

The fragile X syndrome in a large family. II. Psychological investigations

28 July 2018

1 reference

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Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Clinical features and reproductive patterns in fragile X female heterozygotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

A simple salting out procedure for extracting DNA from human nucleated cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Cognitive profiles of boys with the fragile X syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Demethylation of CpG islands in embryonic cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Fragile-X syndrome: unique genetics of the heritable unstable element

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Fragile X syndrome without CCG amplification has an FMR1 deletion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

DNA methylation represses FMR-1 transcription in fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

X-linked mental retardation: Transmission of the trait by an apparently unaffected male

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

Detection of fragile X non-penetrant males by DNA marker analysis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682375

A rapid banding technique for human chromosomes

27 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The fragile X syndrome

1 reference

12 December 2020

Cognitive variability in the fragile X syndrome

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213810%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

8213810

1 reference