Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial (HR-NBL1)

Autor: Ulrike Pötschger, Gudrun Schleiermacher, Sally L George, Nick Bown, Jaydutt Bhalshankar, Sylvain Baulande, Peter F. Ambros, Josef Malis, Gaëlle Pierron, Eve Lapouble, Katia Mazzocco, Virginie Bernard, Jaime Font de Mora, Katleen De Preter, Annick Mühlethaler-Mottet, Nadine Van Roy, Martina Morini, Genevieve Laureys, Bárbara Marques, Dominique Valteau-Couanet, Olivier Delattre, Marta Jeison, Victoria Castel, Shifra Ash, Valérie Combaret, Nathalie Auger, Ruth Ladenstein, Sabine Taschner-Mandl, Louis Chesler, Maria Rossing, David R. Betts, Ales Vicha, Rosa Noguera, Klaus Beiske, Angela Bellini, Walentyna Balwierz, Deborah A. Tweddle, Maja Popovic-Beck, Marie Bernkopf, Nathalie Clément, Per Kogner, Tommy Martinsson, Roberto Luksch, Martin Elliott, Irene Jiménez

Publikováno v: JOURNAL OF CLINICAL ONCOLOGY
Bellini, A, Potschger, U, Bernard, V, Lapouble, E, Baulande, S, Ambros, P F, Auger, N, Beiske, K, Bernkopf, M, Betts, D R, Bhalshankar, J, Bown, N, De Preter, K, Clement, N, Combaret, V, De Mora, J F, George, S L, Jimenez, I, Jeison, M, Marques, B, Martinsson, T, Mazzocco, K, Morini, M, Muhlethaler-Mottet, A, Noguera, R, Pierron, G, Rossing, M, Taschner-Mandl, S, Van Roy, N, Vicha, A, Chesler, L, Balwierz, W, Castel, V, Elliott, M, Kogner, P, Laureys, G, Luksch, R, Malis, J, Popovic-Beck, M, Ash, S, Delattre, O, Valteau-Couanet, D, Tweddle, D A, Ladenstein, R & Schleiermacher, G 2021, ' Frequency and prognostic impact of alk amplifications and mutations in the european neuroblastoma study group (siopen) high-risk neuroblastoma trial (hr-nbl1) ', Journal of Clinical Oncology, vol. 39, no. 30, pp. 3377-3390 . https://doi.org/10.1200/JCO.21.00086
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Journal of clinical oncology, vol. 39, no. 30, pp. 3377-3390

Purpose: In neuroblastoma (NB), the ALK receptor tyrosine kinase can be constitutively activated through activating point mutations or genomic amplification. We studied ALK genetic alterations in high-risk (HR) patients on the HR-NBL1/SIOPEN trial to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f945798aee88bde13807004951fe9f5
https://hdl.handle.net/1854/LU-8743680

Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions

Autor: Raúl J. Andrade, Matthew R. Nelson, Neil H. Shear, Luciana Kase Tanno, Mia Wadelius, Paer Hallberg, Paul B. Watkins, Antonino Romano, Mariam Molokhia, Tarja Laitinen, Werner J. Pichler, Kati Kainu, Ann K. Daly, Yufeng Shen, S. Barrett, Aris Floratos, M. Isabel Lucena, Anthony G Marson, Ana Alfirevic, Munir Pirmohamed, Elizabeth J. Phillips, Paola Nicoletti, Peter S. Friedmann, Camilla Stephens, Laurence McEvoy, Mark J. Daly, Andrew P. Morris, Guruprasad P. Aithal, Einar Bjornsson, Graeme J. Sills, Ashley Swale

Publikováno v: Nicoletti, P, Barrett, S, McEvoy, L, Daly, A K, Aithal, G, Lucena, M I, Andrade, R J, Wadelius, M, Hallberg, P, Stephens, C, Bjornsson, E S, Friedmann, P, Kainu, K, Laitinen, T, Marson, A, Molokhia, M, Phillips, E, Pichler, W, Romano, A, Shear, N, Sills, G, Tanno, L K, Swale, A, Floratos, A, Shen, Y, Nelson, M R, Watkins, P B, Daly, M J, Morris, A P, Alfirevic, A & Pirmohamed, M 2019, ' Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions ', Clinical Pharmacology and Therapeutics, vol. 106, no. 5, pp. 1028-1036 . https://doi.org/10.1002/cpt.1493
Clinical pharmacology and therapeutics

Carbamazepine (CBZ) causes life-threating T-cell-mediated hypersensitivity reactions, including serious cutaneous adverse reactions (SCARs) and drug-induced liver injury (CBZ-DILI). In order to evaluate shared or phenotype-specific genetic predisposi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25dec012f3b71ff62f14143a5438556a
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-396697