CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1 (Q24680140)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236128%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. (English)

1 reference

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24 December 2019

6

1 reference

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24 December 2019

Frank Kooy

7

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24 December 2019

author name string

Birgitta Winnepenninckx

1

1 reference

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24 December 2019

Kim Debacker

2

1 reference

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24 December 2019

Jacqueline Ramsay

3

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24 December 2019

Dominique Smeets

4

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24 December 2019

Arie Smits

5

1 reference

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24 December 2019

language of work or name

English

0 references

publication date

12 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236128%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 December 2019

published in

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24 December 2019

volume

80

1 reference

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24 December 2019

issue

2

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24 December 2019

page(s)

221-231

1 reference

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

24 December 2019

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7 April 2017

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

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

28 September 2017

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Fragile X-associated tremor/ataxia syndrome (FXTAS).

28 September 2017

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Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

28 November 2018

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28 November 2018

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DNA hypomethylation perturbs the function and survival of CNS neurons in postnatal animals.

28 November 2018

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DNA mismatch repair and DNA methylation in adult brain neurons.

28 November 2018

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Expression of DNA methyltransferase gene in mature and immature neurons as well as proliferating cells in mice.

28 November 2018

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Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis.

28 November 2018

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A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently

28 November 2018

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A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites.

28 November 2018

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Genomic imprinting of IGF2 and H19 in human meningiomas

28 November 2018

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12 December 2020

Heritable fragile sites on human chromosomes. VI. Characterization of the fragile site at 12q13

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12 December 2020

[Genetic aspects of autosomal fragile sites. Apropos of 40 Cases]

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12 December 2020

Two different structural abnormalities of chromosome 13 in offspring of chromo-somally normal parents with two fragile sites

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12 December 2020

Fragile site in chromosome 12 in a patient with two miscarriages

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12 December 2020

Population cytogenetics of folate-sensitive fragile sites. II. Autosomal rare fragile sites

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12 December 2020

12q13 fragility in a family with recurrent spontaneous abortions: expression of the fragile site under different culture conditions

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12 December 2020

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

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12 December 2020

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Growing Y-junction carbon nanotubes

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Crossref

https://api.crossref.org/works/10.1086%2F510800

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/510800

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236128%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236128%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference