Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. (Q34146206)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631132 AND SRC:MED&resulttype=core&format=json

3 November 2019

title

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

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3 November 2019

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5

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3 November 2019

author name string

F Tassone

1

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3 November 2019

R J Hagerman

2

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3 November 2019

A K Taylor

3

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3 November 2019

L W Gane

4

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3 November 2019

P J Hagerman

6

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3 November 2019

language of work or name

English

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publication date

1 January 2000

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American Journal of Human Genetics

3 November 2019

published in

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3 November 2019

volume

66

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3 November 2019

issue

1

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3 November 2019

page(s)

6-15

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FMRP expression as a potential prognostic indicator in fragile X syndrome

3 November 2019

cites work

1 reference

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

5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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Learning-disabled males with a fragile X CGG expansion in the upper premutation size range.

5 July 2018

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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

5 July 2018

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5 July 2018

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Transcriptional and posttranscriptional regulation of hepatic beta 2-adrenergic receptor gene expression during development

5 July 2018

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

5 July 2018

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Behavioral and psychiatric disorders in adult male carriers of fragile X.

5 July 2018

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A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

5 July 2018

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Quantitative comparison of FMR1 gene expression in normal and premutation alleles

5 July 2018

1 reference

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A de novo deletion in FMR1 in a patient with developmental delay

5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome

28 October 2018

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Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

28 October 2018

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Phenotypic involvement in females with the FMR1 gene mutation.

28 October 2018

1 reference

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Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains.

28 October 2018

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

28 October 2018

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Normal phenotype in two brothers with a full FMR1 mutation.

28 October 2018

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

28 October 2018

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The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity.

28 October 2018

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Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.

28 October 2018

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Transmitting males and carrier females in fragile X--revisited.

28 October 2018

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Translational suppression by trinucleotide repeat expansion at FMR1.

28 October 2018

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Rapid antibody test for fragile X syndrome.

28 October 2018

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Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization

28 October 2018

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Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

28 October 2018

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12 December 2020

Dizygous twinning and premature menopause in fragile X syndrome

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12 December 2020

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene

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12 December 2020

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

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12 December 2020

Identifiers

DOI

10.1086/302720

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631132 AND SRC:MED&resulttype=core&format=json

3 November 2019

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3 November 2019

PubMed publication ID

10631132

1 reference