(Q24540535)

6 July 2017

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

1 reference

genotype-phenotype correlation

6 July 2017

1 reference

1 reference

1 reference

19

1 reference

6 July 2017

Leif E Peterson

6

0 references

John McPherson

object named as

John D McPherson

7

0 references

Jeffrey A Towbin

15

object named as

Jeffrey A Towbin

1 reference

6 July 2017

13

Carlos A Bacino

1 reference

6 July 2017

8

Richard A Gibbs

1 reference

6 July 2017

Seema R Lalani

1

1 reference

6 July 2017

Arsalan M Safiullah

2

1 reference

6 July 2017

Susan D Fernbach

3

1 reference

6 July 2017

Karine G Harutyunyan

4

1 reference

6 July 2017

Christina Thaller

5

1 reference

6 July 2017

Lisa D White

9

1 reference

6 July 2017

Margaret Hefner

10

1 reference

6 July 2017

Sandra L H Davenport

11

1 reference

6 July 2017

John M Graham

12

1 reference

6 July 2017

Nancy L Glass

14

1 reference

6 July 2017

William J Craigen

16

1 reference

6 July 2017

Steven R Neish

17

1 reference

6 July 2017

Angela E Lin

18

1 reference

6 July 2017

language of work or name

English

0 references

publication date

29 December 2005

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

78

1 reference

6 July 2017

303-314

1 reference

6 July 2017

2

1 reference

SNP genotyping to screen for a common deletion in CHARGE syndrome

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Statistical significance for genomewide studies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

The MeCP1 complex represses transcription through preferential binding, remodeling, and deacetylating methylated nucleosomes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

CHARGE syndrome: report of 47 cases and review

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Characterization of the CHD family of proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Exploration, normalization, and summaries of high density oligonucleotide array probe level data

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Summaries of Affymetrix GeneChip probe level data

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Chd1 chromodomain links histone H3 methylation with SAGA- and SLIK-dependent acetylation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Choanal atresia and associated multiple anomalies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

The many colours of chromodomains.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Deletion in chromosome region 22q11 in a child with CHARGE association.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

CHARGE association: an update and review for the primary pediatrician

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

SEMA3E mutation in a patient with CHARGE syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Initiation of facial motoneurone migration is dependent on rhombomeres 5 and 6.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

A recognizable syndrome within CHARGE association: Hall-Hittner syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Increased paternal age in CHARGE association

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Dominant CHARGE association.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380237

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

29 November 2018

1 reference

12 December 2020

A CGH study of 27 patients with CHARGE association

1 reference

12 December 2020

CHARGE association in two monozygous triplets

1 reference

12 December 2020

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome

1 reference

12 December 2020

Properties of associations: identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations

1 reference

12 December 2020

Trisomy 18 in a patient with CHARGE association

1 reference

12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

12 December 2020

Identifiers

DOI

10.1086/500273

1 reference

OpenCitations bibliographic resource ID

6 July 2017

1938206

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference