(Q30490992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Heather Etchevers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Mathieu Clément-Ziza

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Anastella Pelet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Jeanne Amiel

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Stanislas Lyonnet

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Tania Attié-Bitach

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Gonzales M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Martinovic J

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Delezoide AL

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Aubry MC

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Chemouny S

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Cruaud C

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Audollent S

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Esculpavit C

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Goudefroye G

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Ozilou C

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Fredouille C

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Joye N

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Morichon-Delvallez N

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Dumez Y

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Weissenbach J

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Encha-Razavi F

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Vekemans M

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Munnich A

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

16 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

211-217

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

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

7 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Histone deacetylase directs the dominant silencing of transcription in chromatin: association with MeCP2 and the Mi-2 chromodomain SWI/SNF ATPase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

CHARGE syndrome: report of 47 cases and review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

CHARGE association: an update and review for the primary pediatrician

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Features of DiGeorge syndrome and CHARGE association in five patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Characterization of the CHD family of proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

CHARGE association looking at the future--the voice of a family support group

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Growth in CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

The temporal bone anomaly in CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

CHARGE syndrome. Part I. External ear anomalies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

A reappraisal of the CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

The eye in the CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Who's in CHARGE? Multidisciplinary management of patients with CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Central nervous system malformations in the CHARGE association

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

CHARGE association: clinical manifestations and developmental outcome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Choanal atresia and associated multiple anomalies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Olfactory evaluation in children: application to the CHARGE syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Speculations on the pathogenesis of CHARGE syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Ear-nose-throat abnormalities in the CHARGE association.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Antenatal ultrasonographic findings in the CHARGE association.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563257

Genitourinary anomalies in the CHARGE association

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16169932

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16169932

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Adolescent and adult issues in CHARGE syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16169932

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.036160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16169932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference