CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (Q35752651)

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29 December 2019

case report

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title

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis (English)

1 reference

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29 December 2019

1 reference

14

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29 December 2019

Carol Wise

16

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29 December 2019

Val C. Sheffield

12

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29 December 2019

author name string

Xiaochong Gao

1

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29 December 2019

Derek Gordon

2

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29 December 2019

Dongping Zhang

3

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29 December 2019

Richard Browne

4

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29 December 2019

Cynthia Helms

5

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29 December 2019

Joseph Gillum

6

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29 December 2019

Samuel Weber

7

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29 December 2019

Shonn Devroy

8

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29 December 2019

Saralove Swaney

9

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29 December 2019

Matthew Dobbs

10

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29 December 2019

Jose Morcuende

11

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29 December 2019

Michael Lovett

13

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29 December 2019

John Herring

15

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29 December 2019

language of work or name

English

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publication date

12 March 2007

1 reference

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American Journal of Human Genetics

29 December 2019

published in

1 reference

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volume

80

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issue

5

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page(s)

957-965

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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

29 December 2019

cites work

1 reference

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

2 October 2017

1 reference

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

2 October 2017

1 reference

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2 October 2017

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

2 October 2017

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A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

2 October 2017

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The Cdx1 homeodomain protein: an integrator of posterior signaling in the mouse

2 October 2017

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Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

2 October 2017

1 reference

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A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.

2 October 2017

1 reference

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Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes).

2 October 2017

1 reference

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Controlling the false discovery rate in behavior genetics research

2 October 2017

1 reference

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A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data

2 October 2017

1 reference

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A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission

2 October 2017

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Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

2 October 2017

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Allele-sharing models: LOD scores and accurate linkage tests

2 October 2017

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Parametric and nonparametric linkage analysis: a unified multipoint approach

2 October 2017

1 reference

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A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

2 October 2017

1 reference

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Disruption of the murine homeobox gene Cdx1 affects axial skeletal identities by altering the mesodermal expression domains of Hox genes

2 October 2017

1 reference

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2 October 2017

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Localization of susceptibility to familial idiopathic scoliosis

2 October 2017

1 reference

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Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus

12 July 2018

1 reference

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Maximum-likelihood estimation of gene location by linkage disequilibrium

12 July 2018

1 reference

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A haplotype-based 'haplotype relative risk' approach to detecting allelic associations.

12 July 2018

1 reference

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

12 July 2018

1 reference

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Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus

25 September 2018

1 reference

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Allelic discrimination using fluorogenic probes and the 5' nuclease assay

25 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436250

12 December 2020

Scoliosis in CHARGE: a prospective survey and two case reports

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436250

12 December 2020

Identification of candidate regions for familial idiopathic scoliosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436250

12 December 2020

GOLD--graphical overview of linkage disequilibrium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436250

12 December 2020

Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners

1 reference

https://pubmed.ncbi.nlm.nih.gov/17436250

12 December 2020

Identifiers

DOI

10.1086/513571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17436250%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17436250%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

17436250

1 reference