Detalhe da pesquisa
1.
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
J Allergy Clin Immunol
; 153(5): 1392-1405, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280573
2.
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.
Hum Genet
; 143(1): 19-33, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994973
3.
Human phenotype caused by biallelic KDM4B frameshift variant.
Clin Genet
; 105(1): 72-76, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526414
4.
ATM: Translating the DNA Damage Response to Adaptive Immunity.
Trends Immunol
; 42(4): 350-365, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33663955
5.
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
Hum Genomics
; 16(1): 46, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271469
6.
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.
J Allergy Clin Immunol
; 141(1): 339-349.e11, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28587749
7.
A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA.
J Clin Immunol
; 42(3): 709-712, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091978
8.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Horm Res Paediatr
; 94(11-12): 448-455, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706368
9.
Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.
G Ital Dermatol Venereol
; 155(5): 537-541, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618442
10.
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Pediatr Neurol
; 113: 26-32, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980744
11.
Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development.
Sci Transl Med
; 12(551)2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641488
12.
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
J Exp Med
; 217(11)2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865561