(Q24322458)

GOA release 2020-03-11

cognition

1 reference

GOA release 2020-03-11

1 reference

4

L E L M Vissers

0 references

author name string

M C J Jongmans

1

0 references

R J Admiraal

2

0 references

K P van der Donk

3

0 references

A F Baas

5

0 references

L Kapusta

6

0 references

J M van Hagen

7

0 references

D Donnai

8

0 references

T J de Ravel

9

0 references

J A Veltman

10

0 references

A Geurts van Kessel

11

0 references

B B A De Vries

12

0 references

H G Brunner

13

0 references

L H Hoefsloot

14

0 references

C M A van Ravenswaaij

Journal of Medical Genetics

15

0 references

language of work or name

English

0 references

publication date

April 2006

0 references

published in

0 references

volume

43

0 references

issue

4

0 references

page(s)

306-14

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

CHARGE syndrome: report of 47 cases and review

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Characterization of the CHD family of proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

A mammalian DNA-binding protein that contains a chromodomain and an SNF2/SWI2-like helicase domain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Choanal atresia and associated multiple anomalies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Congenital aplasia of the semicircular canals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Temporal bone CT findings in the CHARGE association.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

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=2563221

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563221

Ear-nose-throat abnormalities in the 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=2563221

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=2563221

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

29 November 2018

1 reference

12 December 2020

CHARGE association in Sweden: malformations and functional deficits

1 reference

12 December 2020

Autistic-like behavior in CHARGE syndrome

1 reference

12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.036061

1 reference

1938203

1938203

1 reference

1 reference

1 reference