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41

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma

Ruiz, Anna; Puig, Susana; Lynch, Michael; Castel, Teresa; Estivill, Xavier; Medical and Molecular Genetics Centre— IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Dermatology Service, Hospital Clinic, Barcelona, Catalonia, Spain; Medical and Molecular Genetics Centre— IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Dermatology Service, Hospital Clinic, Barcelona, Catalonia, Spain; Medical and Molecular Genetics Centre— IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; (International journal of cancer: Journal international du cancer, v.76, 1998, pp.312-316)
42

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing

Pros, Eva; Larriba, Sara; Ló pez, Eva; Ravella, Anna; Gili, M. Lluï sa; Kruyer, Helena; Valls, Joan; Serra, Eduard; Lá zaro, Conxi; Centre de Genè tica Mè dica i Molecular-Institut de Recerca Oncolò gica (IRO) — Institut d'Investigació Biomè dica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-Institut de Recerca Oncolò gica (IRO) — Institut d'Investigació Biomè dica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-Institut de Recerca Oncolò gica (IRO) — Institut d'Investigació Biomè dica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain; Servei de Dermatologia, Hospital de la Creu Roja, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-Institut de Recerca Oncolò gica (IRO) — Institut d'Investigació Biomè dica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain; Centre de Gen&e; (Human mutation, v.27, 2006, pp.1104-1114)
43

Enhanced pancreatic tumor regression by a combination of adenovirus and retrovirus-mediated delivery of the herpes simplex virus thymidine kinase gene

Carrió , M; Romagosa, A; Mercadé , E; Mazo, A; Nadal, M; Gó mez-Foix, A-M; Fillat, C; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Departament de Bioquí mica i Biologia Molecular, Universitat de Barcelona, Barcelona, Spain; Departament de Microbiologia, Universitat de Barcelona, Barcelona, Spain; Departament de Bioquí mica i Biologia Molecular, Universitat de Barcelona, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Departament de Bioquí mica i Biologia Molecular, Universitat de Barcelona, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; (Gene therapy, v.6, 1999, pp.547-553)
44

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

Fillat, Cristina; Españ ol, Teresa; Oset, Marta; Ferrando, Montse; Estivill, Xavier; Volpini, Victor; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain; Unitat d'Immunologia, Hospital General Vall d'Hebron, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain; Unitat d'Immunologia, Hospital General Vall d'Hebron, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain; (American journal of medical genetics, v.100, 2001, pp.116-121)
45

Neurobehavioral development of two mouse lines commonly used in transgenic studies

Dierssen, M.; Fotaki, V.; Martı ́ nez de Lagrá n, M.; Gratacó s, M.; Arboné s, M.; Fillat, C.; Estivill, X.; ; (Pharmacology, biochemistry, and behavior, v.73, 2002, pp.19-25)
46

Characterization of Cellular Binding Sites and Interactive Regions within Reactants Required for Enhancement of Plasminogen Activation by tPA on the Surface of Leukocytic Cells

Fé lez, Jordi; Miles, Lindsey A; Fabregas, Pere; Jardi, Merce; Plow, Edward F; Lijnen, Roger H; Institut Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain; Department of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA; Institut Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain; Institut Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain; Joseph J. Jacobs Center for Thrombosis and Vascular Biology, The Cleveland Clinic Foundation, Cleveland, OH, USA; Center for Molecular and Vascular Biology, University of Leuven, Belgium; (Thrombosis and haemostasis, v.76, 1996, pp.577-584)
47

Human<i>Minibrain</i>Homologue (<i>MNBH/DYRK1</i>): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome

Guimera, Jordi; Casas, Caty; Estivill, Xavier; Pritchard, Melanie; Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Avia de Castelldefels, Km 2.7, L'Hospitalet de Llobregat, 08907, Barcelona, Catalonia, Spain; Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Avia de Castelldefels, Km 2.7, L'Hospitalet de Llobregat, 08907, Barcelona, Catalonia, Spain; Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Avia de Castelldefels, Km 2.7, L'Hospitalet de Llobregat, 08907, Barcelona, Catalonia, Spain; Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Avia de Castelldefels, Km 2.7, L'Hospitalet de Llobregat, 08907, Barcelona, Catalonia, Spain; (Genomics, v.57, 1999, pp.407-418)
48

Ectopic Transcript Analysis Indicates that Allelic Exclusion is an Important Cause of Type I Protein C Deficiency in Patients with Nonsense and Frameshift Mutations in the PROC Gene

Soria, José Manuel; Berg, Lutz-Peter; Fontcuberta, Jordi; Kakkar, Vijay V; Estivill, Xavier; Cooper, David N; Sala, Nú ria; The Molecular Genetics Dept, IRO, Hosp. Duran i Reynals, Barcelona, Spain; Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, U.K.; Thrombosis and Haemostasis Unit, Hosp. Sant Pau, Barcelona, Spain; Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, U.K.; The Molecular Genetics Dept, IRO, Hosp. Duran i Reynals, Barcelona, Spain; Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U.K.; The Molecular Genetics Dept, IRO, Hosp. Duran i Reynals, Barcelona, Spain; (Thrombosis and haemostasis, v.75, 1996, pp.870-876)
49

Characterization of Cell-Associated Plasminogen Activation Catalyzed by Urokinase-Type Plasminogen Activator, but Independent of Urokinase Receptor (uPAR, CD87)

Longstaff, Colin; Merton, R. Elizabeth; Fabregas, Pere; Felez, Jordi; From The National Institute for Biological Standards and Control, South Mimms, Hertfordshire, UK, and the Institut de Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain.; From The National Institute for Biological Standards and Control, South Mimms, Hertfordshire, UK, and the Institut de Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain.; From The National Institute for Biological Standards and Control, South Mimms, Hertfordshire, UK, and the Institut de Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain.; From The National Institute for Biological Standards and Control, South Mimms, Hertfordshire, UK, and the Institut de Recerca Oncologica (IRO), Hospital Duran i Reynals, Barcelona, Spain.; (Blood, v.93, 1999, pp.3839-3846)
50

Protein S secretion differences of missense mutants account for phenotypic heterogeneity

Espinosa-Parrilla, Yolanda; Yamazaki, Tomio; Sala, Nù ria; Dahlbä ck, Bjö rn; de Frutos, Pablo Garcı́ a; From the Department of Clinical Chemistry, Lund University, University Hospital, Malmö , Sweden; and Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain.; From the Department of Clinical Chemistry, Lund University, University Hospital, Malmö , Sweden; and Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain.; From the Department of Clinical Chemistry, Lund University, University Hospital, Malmö , Sweden; and Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain.; From the Department of Clinical Chemistry, Lund University, University Hospital, Malmö , Sweden; and Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain.; From the Department of Clinical Chemistry, Lund University, University Hospital, Malmö , Swede; (Blood, v.95, 2000, pp.173-179)

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