Background splicing as a predictor of aberrant splicing in genetic disease von Alexieva, Diana, Long, Yi, Sarkar, Rupa, Dhayan, Hansraj, Bruet, Emmanuel, Winston, Robert Maurice, Vorechovsky, Igor, Castellano, Leandro, Dibb, Nicholas John

Volltext

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites von Buratti, Emanuele, Chivers, Martin, Hwang, Gyulin, Vorechovsky, Igor

Volltext

Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID) von Hammarström, L., Vorechovsky, I., Webster, D.

Volltext

Deletion and reduced expression of the fanconi anemia FANCA gene in sporadic acute myeloid leukemia von TISCHKOWITZ, M. D, MORGAN, N. V, GRIMWADE, D, EDDY, C, BALL, S, VORECHOVSKY, I, LANGABEER, S, STÖGER, R, HODGSON, S. V, MATHEW, C. G

Volltext

Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes von Thomas, Jeffrey D., Sideras, Paschalis, C. I. Edvard Smith, Vořechovský, Igor, Chapman, Verne, Paul, William E.

Volltext

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... von Vořechovský, Igor, Webster, A. David B., Plebani, Alessandro, Hammarström, Lennart

Volltext

Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia von 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

Volltext

Why do we see JAK2 exon 12 mutations in myeloproliferative neoplasms? von Vorechovsky, I, Jones, A V, Cross, N C P

Volltext

The ATM gene and susceptibility to breast cancer : Analysis of 38 breast tumors reveals no evidence for mutation von 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

Volltext

Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene : Support for a gatekeeper mechanism in skin tumorigenesis von VORECHOVSKY, I, UNDEN, A. B, SANDSTEDT, B, TOFTGARD, R, STAHLE-BÄCKDAHL, M

Volltext

ATM is usually rearranged in T-cell prolymphocytic leukaemia von 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

Volltext

ATM Mutations in cancer families von VORECHOVSKY, I, LUO, L, LINDBLOM, A, NEGRINI, M, WEBSTER, A. D. B, CROCE, C. M, HAMMARSTRÖM, L

Volltext

Patched (ptch)-associated preferential expression of smoothened (smoh) in human basal cell carcinoma of the skin von KALLASSY, M, TOFTGARD, R, UEDA, M, NAKAZAWA, K, VORECHOVSKY, I, YAMASAKI, H, NAKAZAWA, H

Volltext

BTKbase, Mutation Database for X-Linked Agammaglobulinemia (XLA) von Vihinen, Mauno, Iwata, Tsutomu, Kinnon, Christine, Kwan, Sau-Ping, Ochs, Hans D., Vorechovsky, Igor, Smith, C. I. Edvard

Volltext

Missense mutations at ATM gene and cancer risk von Vorechovsky, I, Ortmann, E, Steinmann, D, Dörk, T

Volltext

Ataxia-telangiectasia and T-cell leukemias : No evidence for somatic ATM mutation in sporadic T-ALL or for hypermethylation of the ATM-NPAT/E14 bidirectional promoter in T-PLL von LIPING LUO, LU, F.-M, HART, S, FORONI, L, RABBANI, H, HAMMARSTRÖM, L, WEBSTER, A. D. B, VORECHOVSKY, I

Volltext

Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome von Hahn, Heidi, Wicking, Carol, Zaphiropoulos, Peter G, Gailani, Mae R, Shanley, Susan, Chidambaram, Abirami, Vorechovsky, Igor, Holmberg, Erika, Unden, Anne Birgitte, Gillies, Susan, Negus, Kylie, Smyth, Ian, Pressman, Carolyn, Leffell, David J, Gerrard, Bernard, Goldstein, Alisa M, Dean, Michael, Toftgard, Rune, Chenevix-Trench, Georgia, Wainwright, Brandon, Bale, Allen E

Volltext

Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case fami... von Vorechovský, I, Cullen, M, Carrington, M, Hammarström, L, Webster, A D

Volltext

Compensatory signals associated with the activation of human GC 5' splice sites von Kralovicova, Jana, Hwang, Gyulin, Asplund, A Charlotta, Churbanov, Alexander, Smith, C I Edvard, Vorechovsky, Igor

Volltext

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia von VoŘechovský, Igor, Vihinen, Mauno, de Saint Basile, Geneviève, Honsová, Stanislava, Hammarström, Lennart, Müller, Susanne, Nilsson, Lennart, Fischer, Alain, Smith, C.I.Edvard

Volltext