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  • 31
    Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency
    Solans, A.; Estivill, X.; de la Luna, S.; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain); Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain); Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain); (Cytogenetics and cell genetics, v.88, 2000, pp.43-49)
  • 32
    Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants
    Espinosa-Parrilla, Yolanda; Morell, Marta; Borrell, Montserrat; Souto, Joan Carles; Fontcuberta, Jordi; Estivill, Xavier; Sala, Nú ria; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; (Human mutation, v.15, 2000, pp.463-473)
  • 33
    Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
    Espinosa-Parrilla, Yolanda; Morell, Marta; Souto, Joan Carles; Tirado, Isabel; Fontcuberta, Jordi; Estivill, Xavier; Sala, Nú ria; Departament de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Departament de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain; Departament de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Departament de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; (Human mutation, v.14, 1999, pp.30-39)
  • 34
    Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy
    Carrió , Meritxell; Mazo, Adela; Ló pez-Iglesias, Carmen; Estivill, Xavier; Fillat, Cristina; 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; Serveis Cientificotè cnics (Parc Cientfific), Universitat de Barcelona, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; Centre de Genè tica Mè dica i Molecular, Institut de Recerca Oncolò gica (IRO), Barcelona, Spain; (International journal of cancer: Journal international du cancer, v.94, 2001, pp.81-88)
  • 35
    Differential expression of MHC class II molecules in highly metastatic breast cancer cells is mediated by the regulation of the CIITA transcription : Implication of CIITA in tumor and metastasis development
    Shi, Bo; Vinyals, Antò nia; Alia, Pedro; Broceñ o, Cristina; Chen, Feisong; Adrover, Marc; Gelpi, Carme; Price, Janet E.; Fabra, À ngels; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain; Servei d’Inmunologí a, Hospital de la Santa Creu i Sant Pau, B; (The international journal of biochemistry & cell biology, v.38, 2006, pp.544-562)
  • 36
    Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
    Ló pez-Bigas, Nú ria; Rabionet, Raquel; Martí nez, Elisabeth; Banchs, Isabel; Volpini, Ví ctor; Vance, Jeffery M.; Arboné s, Maria Lourdes; Estivill, Xavier; ; (Human mutation, v.15, 2000, pp.481-482)
  • 37
    Presence of a Major <I>WFS1</I> Mutation in Spanish Wolfram Syndrome Pedigrees
    Gó mez-Zaera, Montse; Strom, Tim M.; Rodrı ́ guez, Benjamı ́ n; Estivill, Xavier; Meitinger, Thomas; Nunes, Virginia; ; (Molecular genetics and metabolism, v.72, 2001, pp.72-81)
  • 38
    PP-1-16 Apoptosis-loss and expression of death-related genes in breast carcinomas
    Sierra, A.; Castellsague, X.; Coll, A.; Mañ as, S.; Escobedo, A.; Fabra, A.; ; (European journal of cancer, v.32, 1996, pp.12-13)
  • 39
    A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders
    Gratacò s, Mò nica; Nadal, Marga; Martı́ n-Santos, Rocı́ o; Pujana, Miguel Angel; Gago, Jordi; Peral, Belé n; Armengol, Lluı́ s; Ponsa, Immaculada; Miró , Rosa; Bulbena, Antoni; Estivill, Xavier; Centre de Genè tica Mè dica i Molecular— IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain; Centre de Genè tica Mè dica i Molecular— IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain; Departament de Psiquiatria, Hospital del Mar, IMAS, Barcelona, Catalonia, Spain; Centre de Genè tica Mè dica i Molecular— IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain; Unitat de Recerca en Psiquiatria, IMIM, E-08083, Barcelona, Catalonia, Spain; Centre de Genè tica Mè dica i Molecular— IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain; Centre de Genè tica Mè dica i Molecular— IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain; Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autò noma de Barcelona, E-08193, Bellaterra, Catalonia, Spain; Departament de Biologia Cellular, Fisiologia i; (Cell, v.106, 2001, pp.367-379)
  • 40
    Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome
    Pucharcó s, Carles; Fuentes, Juan-José ; Casas, Caty; de la Luna, Susana; Alcá ntara, Soledad; Arboné s, Maria L; Soriano, Eduardo; Estivill, Xavier; Pritchard, Melanie; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona; Department of Animal and Plant Cell Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona; Department of Animal and Plant Cell Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Dura; (European journal of human genetics : EJHG, v.7, 1999, pp.704-712)
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