(Q24652747)

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18505430%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18505430%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

CHARGE syndrome

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Andrew McLean-Tooke

6

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Europe PubMed Central

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8 January 2020

9

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Europe PubMed Central

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8 January 2020

Judith A Goodship

8

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J A Goodship

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Europe PubMed Central

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8 January 2020

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A R Gennery

1

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8 January 2020

M A Slatter

2

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8 January 2020

J Rice

3

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8 January 2020

L H Hoefsloot

4

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8 January 2020

D Barge

5

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8 January 2020

T Montgomery

7

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8 January 2020

T J Flood

10

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8 January 2020

M Abinun

11

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8 January 2020

A J Cant

12

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8 January 2020

D Johnson

13

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8 January 2020

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26 May 2008

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8 January 2020

Clinical and Experimental Immunology

1 reference

Europe PubMed Central

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8 January 2020

153

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8 January 2020

1

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8 January 2020

75-80

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18505430%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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=2432100

7 April 2017

Chromatin remodeling proteins interact with pericentrin to regulate centrosome integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

7 April 2017

Gene therapy for severe combined immunodeficiency: are we there yet?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

7 April 2017

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=2432100

7 April 2017

Lymphocyte subsets in term and significantly preterm UK infants in the first year of life analysed by single platform flow cytometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

7 April 2017

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=2432100

7 April 2017

Partial V(D)J recombination activity leads to Omenn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

7 April 2017

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=2432100

7 April 2017

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=2432100

7 April 2017

Immunodeficiency and autoimmunity in 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=2432100

28 September 2017

The Chd family of chromatin remodelers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 September 2017

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=2432100

28 September 2017

Antibody deficiency and autoimmunity in 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=2432100

28 September 2017

Features of DiGeorge syndrome and CHARGE association in five patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 September 2017

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=2432100

28 September 2017

Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

30 May 2018

Familial Reticuloendotheliosis with Eosinophilia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.2008.03681.X

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

Omenn syndrome due to ARTEMIS mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

Immune deficiency and hearing loss in CHARGE Association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

CAMPATH-1M T-cell depleted BMT for SCID: long-term follow-up of 19 children treated 1987-98 in a single center

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2432100

28 November 2018

T cell receptor Vbeta repertoire of T lymphocytes and T regulatory cells by flow cytometric analysis in healthy children

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative assessment of mixed chimerism in allogeneic stem cell transplant patients: a comparison of molecular genetic and cytogenetic approaches

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

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/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Omenn syndrome in an infant with IL7RA gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Flow cytometric analysis of the Vbeta repertoire in healthy controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

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/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and flow cytometric analysis of the Vbeta repertoire for clonality assessment in mature TCRalphabeta T-cell proliferations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early determinants of long-term T-cell reconstitution after hematopoietic stem cell transplantation for severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18505430

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2249.2008.03681.X

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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8 January 2020

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

0 references

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18505430%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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