Søgeresultater - Marco Tartaglia

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  1. 1
    Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

    Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia af Marco Tartaglia

    Udgivet 2004
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  2. 2
    Disorders of dysregulated signal traffic through the RAS‐MAPK pathway: phenotypic spectrum and molecular mechanisms

    Disorders of dysregulated signal traffic through the RAS‐MAPK pathway: phenotypic spectrum and molecular mechanisms af Marco Tartaglia, Bruce D. Gelb

    Udgivet 2010
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  3. 3
    RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it

    RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it af Bruce D. Gelb, Marco Tartaglia

    Udgivet 2011
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  4. 4
    Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

    Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis af Marco Tartaglia, Giuseppe Zampino, Bruce D. Gelb

    Udgivet 2010
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  5. 5
    Noonan syndrome and clinically related disorders

    Noonan syndrome and clinically related disorders af Marco Tartaglia, Bruce D. Gelb, Martin Zenker

    Udgivet 2011
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  6. 6
    The molecular genetics of <scp>RASopathies</scp>: An update on novel disease genes and new disorders

    The molecular genetics of <scp>RASopathies</scp>: An update on novel disease genes and new disorders af Marco Tartaglia, Yoko Aoki, Bruce D. Gelb

    Udgivet 2022
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  7. 7
    Cardiomyopathies in Noonan syndrome and the other RASopathies

    Cardiomyopathies in Noonan syndrome and the other RASopathies af Bruce D. Gelb, Amy E. Roberts, Marco Tartaglia

    Udgivet 2015
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  8. 8
    Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

    Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation af Alessandra Fragale, Marco Tartaglia, Jie Wu, Bruce D. Gelb

    Udgivet 2004
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  9. 9
    Noonan syndrome

    Noonan syndrome af Amy E. Roberts, Judith Allanson, Marco Tartaglia, Bruce D. Gelb

    Udgivet 2013
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  10. 10
    Detection of Bovine Mitochondrial DNA in Ruminant Feeds: A Molecular Approach to Test for the Presence of Bovine-Derived Materials

    Detection of Bovine Mitochondrial DNA in Ruminant Feeds: A Molecular Approach to Test for the Presence of Bovine-Derived Materials af Marco Tartaglia, Ernestina Saulle, S Pestalozza, Luisella Morelli, Giovanni Antonucci, Piero A. Battaglia

    Udgivet 1998
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  11. 11
    Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib

    Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib af Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa

    Udgivet 2024
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  12. 12
    Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor α Homodimers

    Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor α Homodimers af Tekla Hornakova, Judith Staerk, Yohan Royer, Elisabetta Flex, Marco Tartaglia, Stefan N. Constantinescu, Laurent Knoops, Jean‐Christophe Renauld

    Udgivet 2009
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  13. 13
    Prenatal features of Noonan syndrome: prevalence and prognostic value

    Prenatal features of Noonan syndrome: prevalence and prognostic value af Giuseppina Baldassarre, Alessandro Mussa, Anna Dotta, Elena Banaudi, Serena Forzano, Annalisa Marinosci, Cesare Rossi, Marco Tartaglia, Margherita Silengo, Giovanni Battista Ferrero

    Udgivet 2011
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  14. 14
    Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

    Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review af G.J. Reynolds, Andrea Gazzin, Diana Carli, Stefania Massuras, Simona Cardaropoli, Maria Luca, Beatrice Defilippi, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa

    Udgivet 2025
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  15. 15
    Decreased Proliferation and Altered Differentiation in Osteoblasts from Genetically and Clinically Distinct Craniosynostotic Disorders

    Decreased Proliferation and Altered Differentiation in Osteoblasts from Genetically and Clinically Distinct Craniosynostotic Disorders af Alessandra Fragale, Marco Tartaglia, Silvia Bernardini, Anna Maria Michela Di Stasi, Concezio Di Rocco, Francesco Velardi, Anna Teti, Piero A. Battaglia, Silvia Migliaccio

    Udgivet 1999
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  16. 16
    Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

    Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome af Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino

    Udgivet 2013
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  17. 17
    Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

    Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment af Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

    Udgivet 2023
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  18. 18
    Mutations in PAX2 Associate with Adult-Onset FSGS

    Mutations in PAX2 Associate with Adult-Onset FSGS af Moumita Barua, Emilia Stellacci, Lorenzo Stella, Astrid Weins, Giulio Genovese, Valentina Muto, Viviana Caputo, Hakan R. Toka, Victoria T. Charoonratana, Marco Tartaglia, Martin R. Pollak

    Udgivet 2014
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  19. 19
    Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities

    Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities af Elisabeth Losdyck, Tekla Hornakova, Lorraine Springuel, Sandrine Degryse, Olga Gielen, Jan Cools, Stefan N. Constantinescu, Elisabetta Flex, Marco Tartaglia, Jean‐Christophe Renauld, Laurent Knoops

    Udgivet 2015
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  20. 20
    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling af Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia

    Udgivet 2018
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