Detalhe da pesquisa
1.
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Exp Mol Pathol
; 115: 104471, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446860
2.
Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.
BMC Genet
; 16: 108, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334733
3.
Marked differences of haplotype tagging SNP distribution, linkage, and haplotype profile of IL23 receptor gene in Roma and Hungarian population samples.
Cytokine
; 65(2): 148-52, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24332578
4.
Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids.
Mol Biol Rep
; 41(11): 7665-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091946
5.
Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.
Mol Biol Rep
; 41(9): 6105-10, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24969484
6.
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly.
Mol Genet Metab Rep
; 38: 101056, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469100
7.
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
Mol Syndromol
; 14(2): 109-122, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064343
8.
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Mol Genet Genomic Med
; 11(7): e2166, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945115
9.
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
Front Genet
; 12: 673025, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34168676
10.
[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy]. / Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája.
Orv Hetil
; 160(21): 835-838, 2019 May.
Artigo
em Húngaro
| MEDLINE | ID: mdl-31104500
11.
Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.
Pathol Oncol Res
; 25(4): 1349-1355, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455378
12.
Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature.
Curr Med Chem
; 23(31): 3632-3652, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27516201
13.
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Mol Cytogenet
; 9: 22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918030
14.
Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations.
Drug Metab Pharmacokinet
; 30(6): 453-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507668
15.
Extreme differences in SLCO1B3 functional polymorphisms in Roma and Hungarian populations.
Environ Toxicol Pharmacol
; 39(3): 1246-51, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005078
16.
Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations.
Pathol Oncol Res
; 21(3): 743-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25573592
17.
Interethnic variability of CYP4F2 (V433M) in admixed population of Roma and Hungarians.
Environ Toxicol Pharmacol
; 40(1): 280-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176903
18.
Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.
Pharmacol Rep
; 67(3): 460-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25933954
19.
Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples.
Environ Toxicol Pharmacol
; 38(3): 814-20, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25461540