Detalhe da pesquisa
1.
Systematic identification of genomic elements that regulate FCGR2A expression and harbor variants linked with autoimmune disease.
Hum Mol Genet
; 31(12): 1946-1961, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34970970
2.
Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.
Rheumatology (Oxford)
; 62(9): 3213-3218, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004177
3.
Pulmonary fibrosis in relation to genetic loci in an inception cohort of patients with early rheumatoid arthritis from northern Sweden.
Rheumatology (Oxford)
; 61(3): 943-952, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993221
4.
Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.
Rheumatology (Oxford)
; 61(8): 3461-3470, 2022 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888651
5.
Anti-neutrophil cytoplasmic antibodies predate symptom onset of ANCA-associated vasculitis. A case-control study.
J Autoimmun
; 117: 102579, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340843
6.
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
Ann Rheum Dis
; 77(7): 1063-1069, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514802
7.
A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-α levels and high serum interferogenic activity.
Rheumatology (Oxford)
; 58(5): 918-919, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608615
8.
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.
RMD Open
; 10(2)2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38580345
9.
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
Am J Hum Genet
; 86(4): 596-603, 2010 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20226437
10.
Oral Microbiota Profile in Patients with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis.
Microorganisms
; 10(8)2022 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013990
11.
Are Farming and Animal Exposure Risk Factors for the Development of Granulomatosis With Polyangiitis? Environmental Risk Factors Revisited: A Case-control Study.
J Rheumatol
; 48(6): 894-897, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33262300
12.
Multiple epiphyseal dysplasia.
Acta Orthop
; 80(6): 711-5, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19995321
13.
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Eur J Hum Genet
; 27(3): 432-441, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459414
14.
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
Eur J Hum Genet
; 15(3): 379-82, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17213838
15.
Physical findings in the upper airways related to obstructive sleep apnea in men and women.
Acta Otolaryngol
; 127(6): 623-30, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17503232
16.
Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
Arch Dermatol Res
; 304(5): 377-86, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258272
17.
siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.
PLoS One
; 7(1): e29471, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22235297