(Q42254894)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859592%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification (English)

1 reference

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5 March 2020

4

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5 March 2020

author name string

Beáta Tóth

1

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5 March 2020

Zsuzsanna Pistár

2

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5 March 2020

Gabriella Csorba

3

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5 March 2020

Tímea Kovács

5

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5 March 2020

Melinda Erdős

6

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5 March 2020

László Maródi

7

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5 March 2020

publication date

20 August 2013

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European Journal of Haematology

5 March 2020

published in

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5 March 2020

volume

91

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5 March 2020

issue

4

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5 March 2020

page(s)

369-375

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Combined immunodeficiency associated with DOCK8 mutations

5 March 2020

cites work

1 reference

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

21 January 2018

1 reference

21 January 2018

1 reference

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

21 January 2018

1 reference

Cutaneous manifestations of DOCK8 deficiency syndrome

21 January 2018

1 reference

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

21 January 2018

1 reference

Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies

21 January 2018

1 reference

21 January 2018

The hyper-IgE syndromes

1 reference

Clinical manifestations of hyper IgE syndromes

21 January 2018

1 reference

GEF what? Dock180 and related proteins help Rac to polarize cells in new ways

21 January 2018

1 reference

DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction.

21 January 2018

1 reference

Visualizing a role for the actin cytoskeleton in the regulation of B-cell activation

21 January 2018

1 reference

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

21 January 2018

1 reference

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory

21 January 2018

1 reference

The essential role of DOCK8 in humoral immunity

21 January 2018

1 reference

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

21 January 2018

1 reference

Th17 cells, Job's syndrome and HIV: opportunities for bacterial and fungal infections

21 January 2018

1 reference

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemia.

21 January 2018

1 reference

An MLPA-based strategy for discrete CNV genotyping: CNV-miRNAs as an example.

21 January 2018

1 reference

Dedicator of cytokinesis 8 (DOCK8) deficiency

21 January 2018

1 reference

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

21 January 2018

1 reference

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

21 January 2018

1 reference

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients

21 January 2018

1 reference

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

21 January 2018

1 reference

Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EJH.12173

1 reference

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5 March 2020

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