Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families
Vorechovský, I, Cullen, M, Carrington, M, Hammarström, L, Webster, A D
Published in The Journal of immunology (1950) (15.04.2000)
Published in The Journal of immunology (1950) (15.04.2000)
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Background splicing as a predictor of aberrant splicing in genetic disease
Alexieva, Diana, Long, Yi, Sarkar, Rupa, Dhayan, Hansraj, Bruet, Emmanuel, Winston, Robert Maurice, Vorechovsky, Igor, Castellano, Leandro, Dibb, Nicholas John
Published in RNA biology (31.12.2022)
Published in RNA biology (31.12.2022)
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DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites
Buratti, Emanuele, Chivers, Martin, Hwang, Gyulin, Vorechovsky, Igor
Published in Nucleic acids research (01.01.2011)
Published in Nucleic acids research (01.01.2011)
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Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)
Hammarström, L., Vorechovsky, I., Webster, D.
Published in Clinical and experimental immunology (01.05.2000)
Published in Clinical and experimental immunology (01.05.2000)
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X-linked agammaglobulinemia and other immunoglobulin deficiencies
Smith, C I, Islam, K B, Vorechovský, I, Olerup, O, Wallin, E, Rabbani, H, Baskin, B, Hammarström, L
Published in Immunological reviews (01.04.1994)
Published in Immunological reviews (01.04.1994)
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Structural Basis for Chromosome X-Linked Agammaglobulinemia: A Tyrosine Kinase Disease
Vihinen, Mauno, Vetrie, David, Maniar, Hina S., Ochs, Hans D., Zhu, Qili, Vorechovsky, Igor, A. David B. Webster, Notarangelo, Luigi D., Nilsson, Lennart, Sowadski, Janusz M., C. I. Edvard Smith
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.1994)
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A Putative Susceptibility Locus on Chromosome 18 Is Not a Major Contributor to Human Selective IgA Deficiency: Evidence from Meiotic Mapping of 83 Multiple-Case Families
Vorechovsky, Igor, Blennow, Elisabeth, Nordenskjold, Magnus, Webster, A. David B, Hammarstrom, Lennart
Published in The Journal of immunology (1950) (15.08.1999)
Published in The Journal of immunology (1950) (15.08.1999)
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Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours
VORECHOVSKY, I, TINGBY, O, HARTMAN, M, STRÖMBERG, B, NISTER, M, COLLINS, V. P, TOFTGARD, R
Published in Oncogene (17.07.1997)
Published in Oncogene (17.07.1997)
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Deletion and reduced expression of the fanconi anemia FANCA gene in sporadic acute myeloid leukemia
TISCHKOWITZ, M. D, MORGAN, N. V, GRIMWADE, D, EDDY, C, BALL, S, VORECHOVSKY, I, LANGABEER, S, STÖGER, R, HODGSON, S. V, MATHEW, C. G
Published in Leukemia (01.03.2004)
Published in Leukemia (01.03.2004)
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Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia
Vorechovský, I, Luo, L, Prudente, S, Chessa, L, Russo, G, Kanariou, M, James, M, Negrini, M, Webster, A D, Hammarström, L
Published in European journal of human genetics : EJHG (1996)
Published in European journal of human genetics : EJHG (1996)
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Genetic Linkage of IgA Deficiency to the Major Histocompatibility Complex: Evidence for Allele Segregation Distortion, Parent-of-Origin Penetrance Differences, and the Role of Anti-IgA Antibodies in Disease Predisposition
Vořechovský, Igor, Webster, A. David B., Plebani, Alessandro, Hammarström, Lennart
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia
VORECHOVSKY, I, LUO, L, DYER, M. J. S, CATOVSKY, D, AMLOT, P. L, YAXLEY, J. C, FORONI, L, HAMMARSTRÖM, L, WEBSTER, A. D. B, YUILLE, M. A. R
Published in Nature genetics (01.09.1997)
Published in Nature genetics (01.09.1997)
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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
Thomas, Jeffrey D., Sideras, Paschalis, C. I. Edvard Smith, Vořechovský, Igor, Chapman, Verne, Paul, William E.
Published in Science (American Association for the Advancement of Science) (16.07.1993)
Published in Science (American Association for the Advancement of Science) (16.07.1993)
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ATM is usually rearranged in T-cell prolymphocytic leukaemia
YUILLE, M. A. R, COIGNET, L. J. A, ABRAHAM, S. M, YAQUB, F, LUO, L, MATUTES, E, BRITO-BABAPULLE, V, VORECHOVSKY, I, DYER, M. J. S, CATOVSKY, D
Published in Oncogene (12.02.1998)
Published in Oncogene (12.02.1998)
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The ATM gene and susceptibility to breast cancer : Analysis of 38 breast tumors reveals no evidence for mutation
VORECHOVSKY, I, RASIO, D, CROCE, C. M, NEGRINI, M, LUO, L, MONACO, C, HAMMARSTRÖM, L, WEBSTER, A. D. B, ZALOUDIK, J, BARBANTI-BRODANO, G, JAMES, M, RUSSO, G
Published in Cancer research (Chicago, Ill.) (15.06.1996)
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Published in Cancer research (Chicago, Ill.) (15.06.1996)
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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
Vetrie, D, Vorechovský, I, Sideras, P, Holland, J, Davies, A, Flinter, F, Hammarström, L, Kinnon, C, Levinsky, R, Bobrow, M
Published in Nature (London) (21.01.1993)
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Published in Nature (London) (21.01.1993)
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