(Q35752651)

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

29 December 2019

case report

0 references

title

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

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

14

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

Carol Wise

16

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

Val C Sheffield

12

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

author name string

Xiaochong Gao

1

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

Derek Gordon

2

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

Dongping Zhang

3

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

Richard Browne

4

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

Cynthia Helms

5

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

Joseph Gillum

6

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

Samuel Weber

7

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

Shonn Devroy

8

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

Saralove Swaney

9

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

Matthew Dobbs

10

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

Jose Morcuende

11

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

Michael Lovett

13

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

John Herring

15

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

language of work or name

English

0 references

publication date

12 March 2007

1 reference

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

American Journal of Human Genetics

29 December 2019

published in

1 reference

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29 December 2019

volume

80

1 reference

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29 December 2019

issue

5

1 reference

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29 December 2019

page(s)

957-965

1 reference

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

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

29 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Mega2: data-handling for facilitating genetic linkage and association analyses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Controlling the false discovery rate in behavior genetics research

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Allele-sharing models: LOD scores and accurate linkage tests

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Parametric and nonparametric linkage analysis: a unified multipoint approach

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Strategies for multilocus linkage analysis in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Localization of susceptibility to familial idiopathic scoliosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Maximum-likelihood estimation of gene location by linkage disequilibrium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852746

Allelic discrimination using fluorogenic probes and the 5' nuclease assay

25 September 2018

1 reference

12 December 2020

Scoliosis in CHARGE: a prospective survey and two case reports

1 reference

12 December 2020

Identification of candidate regions for familial idiopathic scoliosis

1 reference

12 December 2020

GOLD--graphical overview of linkage disequilibrium

1 reference

12 December 2020

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

1 reference

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

1 reference