Detalhe da pesquisa
1.
Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children.
Clin Immunol
; 264: 110252, 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744408
2.
Transcription factor achaete scute-like 2 controls intestinal stem cell fate.
Cell
; 136(5): 903-12, 2009 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19269367
3.
AI-Inclusivity in Healthcare: Motivating an Institutional Epistemic Trust Perspective.
Camb Q Healthc Ethics
; : 1-15, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38682483
4.
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
J Clin Immunol
; 43(7): 1581-1596, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277582
5.
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
J Allergy Clin Immunol
; 149(1): 432-439.e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048852
6.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
7.
A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 41(6): 1219-1228, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779897
8.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
J Clin Immunol
; 41(1): 99-108, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33070266
9.
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Clin Immunol
; 213: 108359, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32035178
10.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Clin Chem
; 66(4): 525-536, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176780
11.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Rheumatology (Oxford)
; 59(2): 344-360, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325311
12.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433103
13.
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
J Clin Immunol
; 39(6): 577-591, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31250335
14.
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ann Rheum Dis
; 78(10): 1405-1411, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31278138
15.
Classification criteria for autoinflammatory recurrent fevers.
Ann Rheum Dis
; 78(8): 1025-1032, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018962
16.
Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.
Clin Exp Rheumatol
; 37 Suppl 121(6): 142-146, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31856934
17.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
J Med Genet
; 55(8): 530-537, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599418
18.
Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.
J Allergy Clin Immunol
; 142(6): 1947-1955, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432774
19.
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
J Allergy Clin Immunol
; 138(6): 1681-1689.e8, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27405666
20.
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Rheumatology (Oxford)
; 55(5): 902-10, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26867732