Detalhe da pesquisa
1.
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
J Autoimmun
; 144: 103183, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401466
2.
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
Am J Hum Genet
; 107(3): 539-543, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758448
3.
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Am J Hum Genet
; 107(3): 527-538, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758447
4.
VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.
J Dtsch Dermatol Ges
; 21(12): 1456-1463, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953404
5.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clin Genet
; 100(4): 412-429, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216016
6.
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.
BMC Med Genet
; 21(1): 102, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397996
7.
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Hum Mol Genet
; 26(21): 4301-4313, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973304
8.
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease.
Am J Hum Genet
; 108(4): 757, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798446
9.
VEXAS syndrome mimicking lupus-like disease.
Rheumatology (Oxford)
; 62(9): e271-e272, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794903
10.
VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen.
J Dtsch Dermatol Ges
; 21(12): 1456-1464, 2023 12.
Artigo
em Alemão
| MEDLINE | ID: mdl-38082529
11.
Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.
BMC Med Genet
; 18(1): 92, 2017 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28835222
12.
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.
Ann Rheum Dis
; 74(10): 1882-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923216
13.
Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.
Rheumatology (Oxford)
; 58(5): 915-917, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30753645
14.
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis.
Arthritis Rheum
; 65(5): 1224-31, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401011
15.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Eur J Hum Genet
; 32(3): 350-356, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200082
16.
Genetic underpinnings of the psoriatic spectrum.
Med Genet
; 35(1): 46-54, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38835412
17.
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
Eur J Med Genet
; 66(4): 104717, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746366
18.
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Eur J Med Genet
; 66(1): 104669, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379434
19.
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus.
Arthritis Rheum
; 63(12): 3801-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22127698
20.
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis.
Arthritis Rheum
; 63(7): 1860-5, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21400479