(Q34463345)

2 August 2017

1 reference

title

CHARGE syndrome: a review of the immunological aspects (English)

1 reference

2 August 2017

1 reference

1 reference

Monica T Y Wong

1

1 reference

2 August 2017

Elisabeth H Schölvinck

series ordinal

2

1 reference

2 August 2017

Annechien J A Lambeck

series ordinal

3

1 reference

2 August 2017

Conny M A van Ravenswaaij-Arts

series ordinal

4

1 reference

2 August 2017

publication date

18 February 2015

1 reference

European Journal of Human Genetics

2 August 2017

published in

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2 August 2017

volume

23

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2 August 2017

issue

11

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2 August 2017

page(s)

1451-1459

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.7

2 August 2017

exact match

0 references

cites work

Non-Canonical Notch Signaling Drives Activation and Differentiation of Peripheral CD4(+) T Cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

The CD46-Jagged1 interaction is critical for human TH1 immunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Mutation update on the CHD7 gene involved in CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Immunological aspects of 22q11.2 deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

6 July 2018

Thymus transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Congenital T cell deficiency in a patient with CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

A network analysis of the human T-cell activation gene network identifies JAGGED1 as a therapeutic target for autoimmune diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Immunological abnormalities in CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Notch signalling during peripheral T-cell activation and differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Immune deficiency in CHARGE association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Fibroblast growth factor receptor-1 interacts with the T-cell receptor signalling pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Transplantation of thymus tissue in complete DiGeorge syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Variable morbidity in alagille syndrome: a review of 43 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Three malformation complexes related to neural crest development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

CHARGE association: an update and review for the primary pediatrician

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Complete DiGeorge syndrome: persistence of profound immunodeficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Features of DiGeorge syndrome and CHARGE association in five patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Chronic enteric virus infection in two T-cell immunodeficient children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Choanal atresia and associated multiple anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Syndrome of coloboma with multiple congenital abnormalities in infancy.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

T-cell immunodeficiency in CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Immune abnormalities are a frequent manifestation of Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Autoimmune disorders in Kabuki syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Mouse Sertoli cells sustain de novo generation of regulatory T cells by triggering the notch pathway through soluble JAGGED1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.7

Involvement of the thymus and cellular immune system in craniofacial malformation syndromes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613462

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome

27 October 2018

1 reference

12 December 2020

Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)

1 reference

12 December 2020

Complete DiGeorge syndrome associated with CHD7 mutation

1 reference

12 December 2020

Antibody deficiency in adults with 22q11.2 deletion syndrome

1 reference

12 December 2020

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

1 reference

12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

12 December 2020

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

1 reference

12 December 2020

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

1 reference

12 December 2020

Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association

1 reference

12 December 2020

1 reference

12 December 2020

Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations

1 reference

12 December 2020

Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2015.7

1 reference

2 August 2017

1 reference

2 August 2017

1 reference