(Q34404983)

2 August 2017

title

CHARGE syndrome: a review (English)

1 reference

2 August 2017

1 reference

Peter Hsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24548020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Alan Ma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24548020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Meredith Wilson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24548020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

George Williams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24548020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

John Curotta

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6 June 2020

publication date

19 February 2014

1 reference

Journal of Paediatrics and Child Health

2 August 2017

published in

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6 June 2020

volume

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6 June 2020

issue

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6 June 2020

page(s)

504-511

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Choanal atresia and associated multiple anomalies

6 June 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

21 January 2018

1 reference

Mutation update on the CHD7 gene involved in CHARGE syndrome

21 January 2018

1 reference

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

21 January 2018

1 reference

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

21 January 2018

1 reference

CHARGE syndrome: an update

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

21 January 2018

1 reference

The eye in the CHARGE association

21 January 2018

1 reference

Ocular features of CHARGE syndrome

21 January 2018

1 reference

21 January 2018

1 reference

Congenital heart disease in CHARGE association

21 January 2018

1 reference

The cardiac phenotype in patients with a CHD7 mutation.

21 January 2018

1 reference

Ear-nose-throat abnormalities in the CHARGE association

21 January 2018

1 reference

Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo-esophageal fistula

21 January 2018

1 reference

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

21 January 2018

1 reference

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

21 January 2018

1 reference

Adaptive behavior in children with CHARGE syndrome.

21 January 2018

1 reference

Cochlear nerve deficiency in children with CHARGE syndrome

21 January 2018

1 reference

Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association

21 January 2018

1 reference

Aspiration in children with CHARGE syndrome

21 January 2018

1 reference

Olfactory evaluation in children: application to the CHARGE syndrome

21 January 2018

1 reference

Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.

21 January 2018

1 reference

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

21 January 2018

1 reference

Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being

21 January 2018

1 reference

Understanding obstructive sleep apnea in children with CHARGE syndrome

21 January 2018

1 reference

CHARGE association and secondary hypoadrenalism.

21 January 2018

1 reference

Growth failure and pituitary function in CHARGE and VATER associations

21 January 2018

1 reference

Immunological abnormalities in CHARGE syndrome

21 January 2018

1 reference

CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features

21 January 2018

1 reference

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

21 January 2018

1 reference

Clinical manifestations of CHARGE Association

21 January 2018

1 reference

Lung involvement in the multisystem syndrome CHARGE association

21 January 2018

1 reference

Cochlear implantation in Children with CHARGE syndrome: therapeutic decisions and outcomes

21 January 2018

1 reference

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JPC.12497

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24548020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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