Detalhe da pesquisa
1.
A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC Pediatr
; 24(1): 47, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225558
2.
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Int J Mol Sci
; 25(2)2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279271
3.
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
Curr Issues Mol Biol
; 45(7): 5293-5304, 2023 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37504252
4.
Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
Int J Mol Sci
; 24(13)2023 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445923
5.
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Int J Mol Sci
; 24(3)2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768938
6.
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Int J Mol Sci
; 24(8)2023 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108562
7.
Psoriasis-Associated Inflammatory Conditions Induce IL-23 mRNA Expression in Normal Human Epidermal Keratinocytes.
Int J Mol Sci
; 23(1)2022 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008970
8.
TRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-κB activity.
Exp Dermatol
; 30(11): 1705-1710, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999445
9.
Could basement membrane alterations, resembling micro-wounds at the dermo-epidermal junction in psoriatic non-lesional skin, make the skin susceptible to lesion formation?
Exp Dermatol
; 30(6): 765-772, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33348435
10.
Passive Transfer of Blood Sera from ALS Patients with Identified Mutations Results in Elevated Motoneuronal Calcium Level and Loss of Motor Neurons in the Spinal Cord of Mice.
Int J Mol Sci
; 22(18)2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576165
11.
[Consensus statement of the Hungarian Clinical Neurogenic Society about the therapy of adult SMA patients]. / A Magyar Klinikai Neurogenetikai Társaság konszenzusajánlása a felnottkori spinalis izomatrophia (SMA) kezeléséhez.
Ideggyogy Sz
; 74(3-4): 79-86, 2021 Mar 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-33938671
12.
The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.
Postepy Dermatol Alergol
; 38(2): 43-51, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408565
13.
Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
Exp Dermatol
; 29(10): 1017-1020, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744342
14.
Differential role of D cyclins in the regulation of cell cycle by influencing Ki67 expression in HaCaT cells.
Exp Cell Res
; 374(2): 290-303, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30529407
15.
Clinical and genetic differences between pustular psoriasis subtypes.
J Allergy Clin Immunol
; 143(3): 1021-1026, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036598
16.
Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients.
Int J Mol Sci
; 21(15)2020 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32756522
17.
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
J Biol Chem
; 293(32): 12415-12428, 2018 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29925593
18.
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.
BMC Pediatr
; 19(1): 16, 2019 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635044
19.
Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients.
Int J Mol Sci
; 20(10)2019 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130623
20.
Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators.
Exp Dermatol
; 27(6): 656-662, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512856