(Q33903396)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

based on heuristic

inferred from title

Donna M McDonald-McGinn

2

object named as

Donna M McDonald-McGinn

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Soma Jyonouchi

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Sherri Bale

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Elaine H Zackai

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Kathleen E Sullivan

5

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Europe PubMed Central

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29 July 2017

language of work or name

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publication date

1 May 2009

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

123

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Europe PubMed Central

PubMed publication ID

29 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

e871-7

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Immunological abnormalities in CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Immune deficiency in CHARGE association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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=4098848

28 July 2018

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Molecular biology of the chromo domain: an ancient chromatin module comes of age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Microdeletion 22q11 and oesophageal atresia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

CHARGE association: an update and review for the primary pediatrician

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Complete DiGeorge syndrome: persistence of profound immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Prevalence of 22q11 microdeletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Chronic enteric virus infection in two T-cell immunodeficient children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

Choanal atresia and associated multiple anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Retropharyngeal aberrant thymus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

A population study of chromosome 22q11 deletions in infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098848

29 October 2018

Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term assessment of T-cell populations in DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403480

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1542/PEDS.2008-3400

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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