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Immunological abnormalities in CHARGE syndrome
scientific article
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Statements
instance of
scholarly article
0 references
review article
1 reference
stated in
Europe PubMed Central
title
Immunological abnormalities in CHARGE syndrome
(English)
0 references
main subject
Chromodomain helicase DNA binding protein 7
1 reference
stated in
GOA release 2020-03-11
T cell differentiation
1 reference
stated in
GOA release 2020-03-11
immunology
1 reference
based on heuristic
inferred from title
CHARGE syndrome
1 reference
based on heuristic
inferred from title
author name string
Karin Writzl
series ordinal
1
0 references
Catherine M Cale
series ordinal
2
0 references
Christine M Pierce
series ordinal
3
0 references
Louise C Wilson
series ordinal
4
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Raoul C M Hennekam
series ordinal
5
0 references
language of work or name
English
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publication date
2007
1 reference
stated in
PubMed
published in
European Journal of Medical Genetics
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volume
50
0 references
issue
5
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page(s)
338-45
0 references
cites work
Updated diagnostic criteria for CHARGE syndrome: a proposal
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chronic enteric virus infection in two T-cell immunodeficient children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DiGeorge syndrome(s)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The spectrum of the DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Choanal atresia and associated multiple anomalies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete DiGeorge syndrome: persistence of profound immunodeficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Practice parameter for the diagnosis and management of primary immunodeficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyper-IgM syndrome with CHARGE association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transplantation of thymus tissue in complete DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Features of DiGeorge syndrome and CHARGE association in five patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CHARGE association: an update and review for the primary pediatrician
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immune deficiency in CHARGE association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.EJMG.2007.05.002
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/J.EJMG.2007.05.002
0 references
PubMed ID
17684005
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