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    Results: 20

    1.

    Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

    Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I.

    Hum Mutat. 2009 May;30(5):823-31.PMID: 19280650 [PubMed - indexed for MEDLINE]Related articles

    2.

    SERPING1 rs2511988 and age-related macular degeneration.

    Kralovicova J, Vorechovsky I.

    Lancet. 2009 Feb 7;373(9662):461-2. No abstract available. PMID: 19200915 [PubMed - indexed for MEDLINE]Related articles

    3.

    Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.

    Královicová J, Vorechovsky I.

    Nucleic Acids Res. 2007;35(19):6399-413. Epub 2007 Sep 18.PMID: 17881373 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Comment on: Marchand and Polychronakos (2007) Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes: Diabetes 56:709-713.

    Rodriguez S, Gaunt TR, Vorechovsky I, Kralovicová J, Wood PJ, Day IN.

    Diabetes. 2007 Sep;56(9):e16; author reply e17. No abstract available. PMID: 17726135 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

    Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

    Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.PMID: 17576681 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF2-INS-TH haplotypes; and -23HphI as a STEP (splicing and translational efficiency polymorphism).

    Day IN, Rodriguez S, Královicová J, Wood PJ, Vorechovsky I, Gaunt TR.

    Physiol Genomics. 2006 Dec 13;28(1):113. Epub 2006 Aug 1. No abstract available. PMID: 16882885 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Phenotypic consequences of branch point substitutions.

    Královicová J, Lei H, Vorechovský I.

    Hum Mutat. 2006 Aug;27(8):803-13.PMID: 16835862 [PubMed - indexed for MEDLINE]Related articles

    8.

    Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs.

    Královicová J, Vorechovsky I.

    J Immunol. 2006 Feb 15;176(4):2381-8.PMID: 16455996 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?

    Královicová J, Gaunt TR, Rodriguez S, Wood PJ, Day IN, Vorechovsky I.

    Diabetes. 2006 Jan;55(1):260-4.PMID: 16380501 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Biased exon/intron distribution of cryptic and de novo 3' splice sites.

    Královicová J, Christensen MB, Vorechovský I.

    Nucleic Acids Res. 2005 Sep 1;33(15):4882-98. Print 2005.PMID: 16141195 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Intergenic transcripts in genes with phase I introns.

    Královicová J, Vorechovský I.

    Genomics. 2005 Apr;85(4):431-40.PMID: 15780746 [PubMed - indexed for MEDLINE]Related articles

    12.

    Branch site haplotypes that control alternative splicing.

    Královicová J, Houngninou-Molango S, Krämer A, Vorechovsky I.

    Hum Mol Genet. 2004 Dec 15;13(24):3189-202. Epub 2004 Oct 20.PMID: 15496424 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency.

    Kralovicova J, Hammarström L, Plebani A, Webster AD, Vorechovsky I.

    J Immunol. 2003 Mar 1;170(5):2765-75.PMID: 12594308 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The HLA-DRA*0102 allele: correct nucleotide sequence and associated HLA haplotypes.

    Kralovicova J, Marsh SG, Waller MJ, Hammarstrom L, Vorechovsky I.

    Tissue Antigens. 2002 Sep;60(3):266-7.PMID: 12445311 [PubMed - indexed for MEDLINE]Related articles

    15.

    Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

    Vorechovsky I, Kralovicova J, Tchilian E, Masterman T, Zhang Z, Ferry B, Misbah S, Chapel H, Webster D, Hellgren D, Anvret M, Hillert J, Hammarstrom L, Beverley PC.

    Nat Genet. 2001 Sep;29(1):22-3.PMID: 11548742 [PubMed - indexed for MEDLINE]Related articles

    16.

    Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region.

    Vorechovsky I, Kralovicova J, Laycock MD, Webster AD, Marsh SG, Madrigal A, Hammarström L.

    Eur J Hum Genet. 2001 Aug;9(8):590-8.PMID: 11528504 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    HLA alleles and susceptibility to dermatological disorders associated with Helicobacter pylori infection: a significant association to HLA-Cw*06.

    Kulcsárová E, Fazekasová H, Královicová J, Buc M, Kolibásová K, Hegyi E.

    Folia Biol (Praha). 2001;47(2):62-5.PMID: 11321249 [PubMed - indexed for MEDLINE]Related articles

    18.

    [Selection of donor-recipient pairs in families for allogenic bone marrow transplantation]

    Buc M, Kusikova M, Fazekasova H, Kralovicova J, Holomanova D, Mistrik M, Sakalova A.

    Bratisl Lek Listy. 2000;101(3):173-5. Slovak. PMID: 10870264 [PubMed - indexed for MEDLINE]Related articles

    19.

    [Comparison of the results of HLA typing using serologic and molecular genetics methods]

    Kulcsarova E, Kralovicova J, Parnicka Z, Ferencik S, Buc M.

    Bratisl Lek Listy. 2000;101(3):134-7. Slovak. PMID: 10870256 [PubMed - indexed for MEDLINE]Related articles

    20.

    [Frequency of HLA-A, HLA-B and HLA-Cw antigens in the Slovak population]

    Kralovicova J, Kusikova M, Buc M, Holomanova D, Sakalova A.

    Bratisl Lek Listy. 2000;101(1):24-7. Slovak. PMID: 10824408 [PubMed - indexed for MEDLINE]Related articles

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