Resultados de procura - Elisabetta Flex

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  1. 1
    A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

    A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype por Antonio Pizzuti, Elisabetta Flex, Rita Mingarelli, Carmelo Salpietro, Leopoldo Zelante, Bruno Dallapiccola

    Publicado 2004
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  2. 2
    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 por Tekla Hornakova, Judith Staerk, Yohan Royer, Elisabetta Flex, Marco Tartaglia, Stefan N. Constantinescu, Laurent Knoops, Jean‐Christophe Renauld

    Publicado 2009
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  3. 3
    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 por Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino

    Publicado 2013
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  4. 4
    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 por Elisabeth Losdyck, Tekla Hornakova, Lorraine Springuel, Sandrine Degryse, Olga Gielen, Jan Cools, Stefan N. Constantinescu, Elisabetta Flex, Marco Tartaglia, Jean‐Christophe Renauld, Laurent Knoops

    Publicado 2015
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  5. 5
    The Functional Q84R Polymorphism of Mammalian <i>Tribbles</i> Homolog <i>TRB3</i> Is Associated With Insulin Resistance and Related Cardiovascular Risk in Caucasians From Italy

    The Functional Q84R Polymorphism of Mammalian <i>Tribbles</i> Homolog <i>TRB3</i> Is Associated With Insulin Resistance and Related Cardiovascular Risk in Caucasians From Italy por Sabrina Prudente, Marta Letizia Hribal, Elisabetta Flex, Federica Turchi, Eleonora Morini, Salvatore De Cosmo, Simonetta Bacci, Vittorio Tassi, Marina Cardellini, Renato Lauro, Giorgio Sesti, Bruno Dallapiccola, Vincenzo Trischitta

    Publicado 2005
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  6. 6
    A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities

    A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities por Sabrina Prudente, Elisabetta Flex, Eleonora Morini, Federica Turchi, Daria Capponi, Salvatore De Cosmo, Vittorio Tassi, Valentina Guida, Angelo Avogaro, Franco Folli, Francesca Maiani, Lucia Frittitta, Bruno Dallapiccola, Vincenzo Trischitta

    Publicado 2007
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  7. 7
    Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

    Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes por Simone Martinelli, Paola Torreri, Michele Tinti, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Alessandro Grottesi, Marina Ceccarini, Antonio Palleschi, Gianni Cesareni, Luisa Castagnoli, Tamara C. Petrucci, Bruce D. Gelb, Marco Tartaglia

    Publicado 2008
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  8. 8
    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease por Marco Tartaglia, Simone Martinelli, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Viviana Cordeddu, Giuseppe Zampino, Ineke van der Burgt, Antonio Palleschi, Tamara C. Petrucci, M Sorcini, Claudia Schoch, Robin Foà, Peter D. Emanuel, Bruce D. Gelb

    Publicado 2006
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  9. 9
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature por Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Publicado 2020
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  10. 10
    Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

    Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases por Ludovica Grassi, Romina Alfonsi, Federica Francescangeli, Michele Signore, Maria Laura De Angelis, Antonio Addario, Manuela Costantini, Elisabetta Flex, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Matteo Pallocca, Giuseppe Simone, Mustapha Haoui, Mario Falchi, Michèle Milella, Steno Sentinelli, Paola Di Matteo, Emilia Stellacci, Michele Gallucci, Giovanni Muto, Marco Tartaglia, Ruggero De Maria, Désirée Bonci

    Publicado 2019
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  11. 11
    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome por Fanny Kortüm, Viviana Caputo, Christiane K. Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M. White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M. Campeau, Marco Tartaglia, Kerstin Kutsche

    Publicado 2015
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  12. 12
    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy por Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi‐Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini

    Publicado 2016
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  13. 13
    Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia

    Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia por Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella, Sabina Chiaretti, Tekla Hornakova, Laurent Knoops, Cristina Ariola, Valentina Fodale, Emmanuelle Clappier, Francesca Paoloni, Simone Martinelli, Alessandra Fragale, Massimo Sanchez, Simona Tavolaro, Monica Messina, Giovanni Cazzaniga, Andrea Camera, Giovanni Pizzolo, Assunta Tornesello, Marco Vignetti, Angela Battistini, Hélène Cavé, Bruce D. Gelb, Jean‐Christophe Renauld, Andrea Biondi, Stefan N. Constantinescu, Robin Foà, Marco Tartaglia

    Publicado 2008
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  14. 14
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants por Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    Publicado 2017
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  15. 15
    Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11 -Associated Juvenile Myelomonocytic Leukemia

    Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11 -Associated Juvenile Myelomonocytic Leukemia por Sonia Mulero‐Navarro, Ana Sevilla, Ángel Román, Dung‐Fang Lee, Sunita L. D’Souza, Sherly Pardo, Ilan Riess, Jie Su, Ninette Cohen, Christoph Schaniel, Nelson A. Rodriguez, Alessia Baccarini, Brian D. Brown, Hélène Cavé, Aurélie Caye, Marion Strullu, Safak Yalcin, C Y Park, Perundurai S. Dhandapany, Yongchao Ge, Lisa Edelmann, Sawsan Bahieg, Patrick Raynal, Elisabetta Flex, Marco Tartaglia, Kateri Moore, Ihor R. Lemischka, Bruce D. Gelb

    Publicado 2015
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  16. 16
    RAF1 mutations in childhood-onset dilated cardiomyopathy

    RAF1 mutations in childhood-onset dilated cardiomyopathy por Perundurai S. Dhandapany, Abdur Razzaque, Uthiralingam Muthusami, Sreejith Kunnoth, Jonathan J. Edwards, Sonia Mulero‐Navarro, Ilan Riess, Sherly Pardo, Jipo Sheng, Deepa Selvi Rani, Bindhu Rani, Periyasamy Govindaraj, Elisabetta Flex, Tomohiro Yokota, Michiko Furutani, Tsutomu Nishizawa, Toshio Nakanishi, Jeffrey Robbins, Giuseppe Limongelli, Roger J. Hajjar, Djamel Lebeche, Ajay Bahl, Madhu Khullar, Andiappan Rathinavel, Kirsten C. Sadler, Marco Tartaglia, Rumiko Matsuoka, Kumarasamy Thangaraj, Bruce D. Gelb

    Publicado 2014
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  17. 17
    Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome

    Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome por Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia

    Publicado 2017
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  18. 18
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment por Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid

    Publicado 2020
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  19. 19
    Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

    Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair por Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, Avi Ma’ayan, Anna Sárközy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, M. Cristina Digilio, Simone Martinelli, Elisabetta Flex, Francesca Romana Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni Battista Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia

    Publicado 2009
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  20. 20
    Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

    Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy por Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret Au, Alessandro Capuano, Emanuela Piermarini, Anna Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara L. Levine, Antonella Sferra, Maria Lisa Dentici, Rolph Pfundt, Jean‐Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol Saunders, Enrico Bertini, Richard Kahn, David A. Koolen, Marco Tartaglia

    Publicado 2016
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