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Results:
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Results: 18
Authors:
Buratti, E
Dork, T
Zuccato, E
Pagani, F
Romano, M
Baralle, FE
Citation: E. Buratti et al., Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping, EMBO J, 20(7), 2001, pp. 1774-1784
Authors:
Arutyunyan, R
Neubauer, S
Martus, P
Dork, T
Stumm, M
Gebhart, E
Citation: R. Arutyunyan et al., Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes, EXP ONCOL, 23(1), 2001, pp. 23-28
Authors:
Bremer, M
Steinmann, D
Dork, T
Borger, J
Rades, D
Karstens, JH
Citation: M. Bremer et al., Bilateral breast cancer and local relapse: A hospital-based study of the prevalence of BRCA 1 and BRCA 2 gene mutations, STRAH ONKOL, 177(7), 2001, pp. 325-329
Authors:
Ockenga, J
Dork, T
Stuhrmann, M
Citation: J. Ockenga et al., Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis, J MED GENET, 38(4), 2001, pp. 243-244
Authors:
Hughes, D
Dork, T
Stuhrmann, M
Graham, C
Citation: D. Hughes et al., Mutation and haplotype analysis of the CFTR gene in atypically mild cysticfibrosis patients from Northern Ireland, J MED GENET, 38(2), 2001, pp. 136-139
Authors:
Amaral, MD
Pacheco, P
Beck, S
Farinha, CM
Penque, D
Nogueira, P
Barreto, C
Lopes, B
Casals, T
Dapena, J
Gartner, S
Vasquez, C
Perez-Frias, J
Olveira, C
Cabanas, R
Estivill, X
Tzetis, M
Kanavakis, E
Doudounakis, S
Dork, T
Tummler, B
Girodon-Boulandet, E
Cazeneuve, C
Goossens, M
Blayau, M
Verlingue, C
Vieira, I
Ferec, C
Claustres, M
des Georges, M
Clavel, C
Birembaut, P
Hubert, D
Bienvenu, T
Adoun, M
Chomel, JC
De Boeck, K
Cuppens, H
Lavinha, J
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782
Authors:
Dork, T
Bendix, R
Bremer, M
Rades, D
Klopper, K
Nicke, M
Skawran, B
Hector, A
Yamini, P
Steinmann, D
Weise, S
Stuhrmann, M
Karstens, JH
Citation: T. Dork et al., Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients, CANCER RES, 61(20), 2001, pp. 7608-7615
Authors:
Steinmann, D
Bremer, M
Rades, D
Skawran, B
Siebrands, C
Karstens, JH
Dork, T
Citation: D. Steinmann et al., Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer, BR J CANC, 85(6), 2001, pp. 850-858
Authors:
Langen, H
von Kietzell, D
Byrd, D
Arslan-Kirchner, M
Vester, U
Stuhrmann, M
Dork, T
Saar, K
Reis, A
Schmidtke, J
Brodehl, J
Citation: H. Langen et al., Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria, PED NEPHROL, 14(5), 2000, pp. 376-384
Authors:
Dork, T
Macek, M
Mekus, F
Tummler, B
Tzountzouris, J
Casals, T
Krebsova, A
Koudova, M
Sakmaryova, I
Macek, M
Vavrova, V
Zemkova, D
Ginter, E
Petrova, NV
Ivaschenko, T
Baranov, V
Witt, M
Pogorzelski, A
Bal, J
Zekanowsky, C
Wagner, K
Stuhrmann, M
Bauer, I
Seydewitz, HH
Neumann, T
Jakubiczka, S
Kraus, C
Thamm, B
Nechiporenko, M
Livshits, L
Mosse, N
Tsukerman, G
Kadasi, L
Ravnik-Glavac, M
Glavac, D
Komel, R
Vouk, K
Kucinskas, V
Krumina, A
Teder, M
Kocheva, S
Efremov, GD
Onay, T
Kirdar, B
Malone, G
Schwarz, M
Zhou, ZQ
Friedman, KJ
Carles, S
Claustres, M
Bozon, D
Verlingue, C
Ferec, C
Tzetis, M
Kanavakis, E
Cuppens, H
Bombieri, C
Pignatti, PF
Sangiuolo, F
Jordanova, A
Kusic, J
Radojkovic, D
Sertic, J
Richter, D
Rukavina, AS
Bjorck, E
Strandvik, B
Cardoso, H
Montgomery, M
Nakielna, B
Hughes, D
Estivill, X
Aznarez, I
Tullis, E
Tsui, LC
Zielenski, J
Citation: T. Dork et al., Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe, HUM GENET, 106(3), 2000, pp. 259-268
Authors:
Stuhrmann, M
Graf, N
Dork, T
Schmidtke, J
Citation: M. Stuhrmann et al., Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis, EUR J PED, 159, 2000, pp. S186-S191
Authors:
Stuhrmann, M
Dork, T
Citation: M. Stuhrmann et T. Dork, CFTR gene mutations and male infertility, ANDROLOGIA, 32(2), 2000, pp. 71-83
Authors:
Speit, G
Trenz, K
Schutz, P
Bendix, R
Dork, T
Citation: G. Speit et al., Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation incomparison to ataxia telangiectasia heterozygote cells, CYTOG C GEN, 91(1-4), 2000, pp. 261-266
Authors:
Ockenga, J
Stuhrmann, M
Ballmann, M
Teich, N
Keim, V
Dork, T
Manns, MP
Citation: J. Ockenga et al., Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis, AM J GASTRO, 95(8), 2000, pp. 2061-2067
Authors:
Sandoval, N
Platzer, M
Rosenthal, A
Dork, T
Bendix, R
Skawran, B
Stuhrmann, M
Wegner, RD
Sperling, K
Banin, S
Shiloh, Y
Baumer, A
Bernthaler, U
Sennefelder, H
Brohm, M
Weber, BHF
Schindler, D
Citation: N. Sandoval et al., Characterization of ATM gene mutations in 66 ataxia telangiectasia families, HUM MOL GEN, 8(1), 1999, pp. 69-79
Authors:
Vorechovsky, I
Ortmann, E
Steinmann, D
Dork, T
Citation: I. Vorechovsky et al., Missense mutations at ATM gene and cancer risk, LANCET, 353(9160), 1999, pp. 1276-1276
Authors:
Backe, J
Hofferbert, S
Skawran, B
Dork, T
Stuhrmann, M
Karstens, JH
Untch, M
Meindl, A
Burgemeister, R
Chang-Claude, J
Weber, BHF
Citation: J. Backe et al., Frequency of BRCA1 mutation 5382insC in German breast cancer patients, GYNECOL ONC, 72(3), 1999, pp. 402-406
Authors:
Dork, T
Skawran, B
Stuhrmann, M
Bremer, M
Karstens, JH
Citation: T. Dork et al., BRCA1 expression is not affected by the intronic 12 bp duplication, J MED GENET, 36(3), 1999, pp. 262-263
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