Detalhe da pesquisa
1.
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
Annu Rev Immunol
; 29: 399-413, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21219176
2.
Generation of complex bone marrow organoids from human induced pluripotent stem cells.
Nat Methods
; 21(5): 868-881, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374263
3.
An allelic-series rare-variant association test for candidate-gene discovery.
Am J Hum Genet
; 110(8): 1330-1342, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37494930
4.
Gasdermin D drives focal Crystalline Thrombotic Microangiopathy by accelerating Immunothrombosis and Necroinflammation.
Blood
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657197
5.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
6.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194689
7.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
8.
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Immunogenetics
; 76(3): 189-202, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38683392
9.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
Blood
; 139(13): 2066-2079, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100336
10.
Corrigendum: Mechanism of early dissemination and metastasis in Her2+ mammary cancer.
Nature
; 553(7688): 366, 2018 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236689
11.
Human MD2 deficiency-an inborn error of immunity with pleiotropic features.
J Allergy Clin Immunol
; 151(3): 791-796.e7, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462957
12.
Biallelic TLR4 deficiency in humans.
J Allergy Clin Immunol
; 151(3): 783-790.e5, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462956
13.
[Participation in children's hospitals: approaches to participatory formats for paediatric patients]. / Teilhabe im Kinderkrankenhaus: Formate zur Verwirklichung des Rechts auf Partizipation von jungen Patientinnen und Patienten.
Gesundheitswesen
; 2024 Apr 23.
Artigo
em Alemão
| MEDLINE | ID: mdl-38653470
14.
Ex vivo expansion of lung cancer-derived disseminated cancer cells from lymph nodes identifies cells associated with metastatic progression.
Int J Cancer
; 153(10): 1854-1867, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37555668
15.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
16.
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
J Clin Immunol
; 43(2): 495-511, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36370291
17.
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 1, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100037
18.
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
Gastroenterology
; 162(3): 859-876, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780721
19.
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Blood Cells Mol Dis
; 99: 102726, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36696755
20.
CLEC12A and CD33 coexpression as a preferential target for pediatric AML combinatorial immunotherapy.
Blood
; 137(8): 1037-1049, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094319