(Q36605099)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

review article

1 reference

title

Immunodeficiency mutation databases (IDbases) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

author name string

Hilkka Piirilä

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Jouni Väliaho

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

publication date

1 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

1200-1208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17004234%20AND%20SRC:MED&resulttype=core&format=json

Primary Immunodeficiencies: Genotype-Phenotype Correlations

19 December 2019

cites work

1 reference

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Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

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7 January 2021

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

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7 January 2021

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

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7 January 2021

A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.

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7 January 2021

TACI is mutant in common variable immunodeficiency and IgA deficiency

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

Nomenclature for the description of human sequence variations.

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7 January 2021

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

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7 January 2021

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

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7 January 2021

Omenn syndrome due to ARTEMIS mutations

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7 January 2021

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

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7 January 2021

Primary immunodeficiency diseases: an experimental model for molecular medicine

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7 January 2021

Omenn syndrome in an infant with IL7RA gene mutation

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7 January 2021

APECED-causing mutations in AIRE reveal the functional domains of the protein

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7 January 2021

Genotype is an important determinant of phenotype in adenosine deaminase deficiency

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7 January 2021

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype

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7 January 2021

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

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7 January 2021

Structure-function effects in primary immunodeficiencies.

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7 January 2021

Registries of immunodeficiency patients and mutations

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7 January 2021

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

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7 January 2021

Autosomal-dominant primary immunodeficiencies

1 reference

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7 January 2021

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

1 reference

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7 January 2021

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

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7 January 2021

X-linked immunodeficiency with hyper-IgM (XHIM).

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7 January 2021

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

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7 January 2021

Primary immunodeficiency diseases: an update.

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7 January 2021

Pleckstrin Homology Domains of Tec Family Protein Kinases

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7 January 2021

Sequence specificity in CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20405

7 January 2021

KinMutBase: a registry of disease-causing mutations in protein kinase domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20405

7 January 2021

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

1 reference

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7 January 2021

MUTbase: maintenance and analysis of distributed mutation databases.

1 reference

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7 January 2021

Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain

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7 January 2021

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

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7 January 2021

Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics

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7 January 2021

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

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7 January 2021

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

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7 January 2021

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

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7 January 2021

Novel immunodeficiency data servers

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7 January 2021

IDR: the ImmunoDeficiency Resource.

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7 January 2021

Distribution of immunodeficiency fact files with XML--from Web to WAP.

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7 January 2021

BTKbase: the mutation database for X-linked agammaglobulinemia.

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7 January 2021

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

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7 January 2021

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

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7 January 2021

BTKbase: a database of XLA-causing mutations. International Study Group.

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7 January 2021

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia

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7 January 2021

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

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7 January 2021

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

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7 January 2021

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

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7 January 2021

4 Primary immunodeficiency mutation databases

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7 January 2021

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

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7 January 2021

The amino-acid mutational spectrum of human genetic disease

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7 January 2021

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

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7 January 2021

The rate of CpG mutation in Alu repetitive elements within the p53 tumor suppressor gene in the primate germline

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7 January 2021

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

1 reference

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7 January 2021

https://api.fatcat.wiki/v0/release/iy4nrnihdngvxp73fkip7wol74

Identifiers

1 reference

30 July 2022

mapped directly with Wikidata item

Fatcat ID

release_iy4nrnihdngvxp73fkip7wol74

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/iy4nrnihdngvxp73fkip7wol74

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/iy4nrnihdngvxp73fkip7wol74

1 reference

30 July 2022