Detalhe da pesquisa
1.
Endoplasmic reticulum aminopeptidase 1 polymorphism Ile276Met is associated with atopic dermatitis and affects the generation of an HLA-C associated antigenic epitope in vitro.
J Eur Acad Dermatol Venereol
; 33(5): 906-911, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680818
2.
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
Clin Genet
; 93(5): 1107-1108, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243232
3.
DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.
Int J Legal Med
; 132(1): 1-11, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28725932
4.
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Clin Genet
; 91(5): 769-773, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27414745
5.
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Clin Genet
; 91(1): 30-37, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102849
6.
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
J Transl Med
; 14(1): 115, 2016 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146836
7.
Genetic evaluation of patients with Alström syndrome in the Polish population.
Clin Genet
; 89(4): 448-453, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283575
8.
Possible association between actinic keratosis and the rs7208422 (c.917AâT, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis.
Clin Exp Dermatol
; 40(3): 318-23, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495765
9.
rs3827440, a nonsynonymous single nucleotide polymorphism within GPR174 gene in X chromosome, is associated with Graves' disease in Polish Caucasian population.
Tissue Antigens
; 83(1): 41-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24289805
10.
Hepatitis C virus 5' untranslated region variability correlates with treatment outcome.
J Viral Hepat
; 21(8): 551-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24118647
11.
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Clin Genet
; 85(6): 573-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23829229
12.
The replication of the association of the rs6832151 within chromosomal band 4p14 with Graves' disease in a Polish Caucasian population.
Tissue Antigens
; 79(5): 380-3, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22489947
13.
New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.
Clin Genet
; 92(6): 671-673, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052218
14.
Independent association of FTO rs9939609 polymorphism with overweight and obesity in Polish adults. Results from the representative population-based WOBASZ study.
J Physiol Pharmacol
; 73(3)2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302535
15.
Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.
Tissue Antigens
; 78(3): 214-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21615338
16.
Lack of KIR2DL4 gene in a fertile Caucasian woman.
Tissue Antigens
; 78(2): 115-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21623736
17.
Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.
Lupus
; 20(1): 85-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20961965
18.
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Clin Genet
; 75(1): 57-64, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19021637
19.
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.
J Inherit Metab Dis
; 30(3): 407, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17457694
20.
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
J Appl Genet
; 57(2): 175-81, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432462