Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. (Q51960539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18386809%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis (English)

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5 January 2020

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3

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5 January 2020

author name string

Shashikant Kulkarni

1

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5 January 2020

Prabakaran Nagarajan

2

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5 January 2020

Diana J Donovan

4

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5 January 2020

Robert L Donell

5

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5 January 2020

Azra H Ligon

6

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5 January 2020

Sundaresan Venkatachalam

7

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5 January 2020

Bradley J Quade

8

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5 January 2020

language of work or name

English

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publication date

1 May 2008

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American Journal of Medical Genetics

5 January 2020

published in

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5 January 2020

volume

146A

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5 January 2020

issue

9

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5 January 2020

page(s)

1117-1127

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CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

5 January 2020

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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

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Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

22 May 2018

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

22 May 2018

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CHD5 defines a new subfamily of chromodomain-SWI2/SNF2-like helicases

22 May 2018

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dMi-2 and ISWI chromatin remodelling factors have distinct nucleosome binding and mobilization properties

22 May 2018

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22 May 2018

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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Interstitial deletion of chromosome 15: two cases

22 May 2018

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SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

27 July 2018

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A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q.

13 August 2018

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Good genes in bad neighbourhoods.

13 August 2018

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Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

13 August 2018

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Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

13 August 2018

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12 December 2020

Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF

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12 December 2020

The association between Mi-2 antibodies and dermatomyositis

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12 December 2020

De novo t(2;13)(p24.3;q14.2) and retinoblastoma. Mapping of two 13q14 probes by in situ hybridization

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12 December 2020

Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24)

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12 December 2020

Position effect in human genetic disease

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12 December 2020

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

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12 December 2020

Mutation of the SNF2 family member Chd2 affects mouse development and survival

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18386809%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

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5 January 2020

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