(Q50855638)

24 March 2018

title

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. (English)

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24 March 2018

author name string

Russo S

1

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24 March 2018

Briscioli V

2

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24 March 2018

Cogliati F

3

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24 March 2018

Macchi M

4

1 reference

24 March 2018

Lalatta F

5

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24 March 2018

Larizza L

6

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24 March 2018

publication date

1 October 1998

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24 March 2018

published in

Clinical Genetics

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24 March 2018

volume

54

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24 March 2018

issue

4

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24 March 2018

page(s)

309-314

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24 March 2018

Fragile X syndrome is less common than previously estimated

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Frequency and stability of the fragile X premutation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Modeling methylation and IQ scores in fragile X females and mosaic males

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

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/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Contribution of the FMR1 gene mutation to human intellectual dysfunction

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

"Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

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/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Molecular-neurobehavioral associations in females with the fragile X full mutation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

Confirmation of early menopause in fragile X carriers

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

FRAXA premutation associated with premature ovarian failure

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1998.5440408.X

7 January 2021

10.1034/J.1399-0004.1998.5440408.X

Identifiers

DOI

1 reference

24 March 2018

1 reference

24 March 2018