Αποτελέσματα αναζήτησης - Andrea Ciolfi

Περιορισμός αποτελεσμάτων
  1. 1
    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 από Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino

    Έκδοση 2013
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    Modeling medulloblastoma in vivo and with human cerebellar organoids

    Modeling medulloblastoma in vivo and with human cerebellar organoids από Claudio Ballabio, Marica Anderle, Matteo Gianesello, Chiara Lago, Evelina Miele, Marina Cardano, Giuseppe Aiello, Silvano Piazza, Davide Caron, Francesca Gianno, Andrea Ciolfi, Lucia Pedace, Angela Mastronuzzi, Marco Tartaglia, Franco Locatelli, Elisabetta Ferretti, Felice Giangaspero, Luca Tiberi

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

    A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome από Viviana Caputo, L Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, E. Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Fabia Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

    Έκδοση 2012
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma

    Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma από Tobias L. Haas, Maria Rita Sciuto, Lidia Brunetto, Cecilia Valvo, Michele Signore, Micol Eleonora Fiori, Simona Di Martino, Stefano Giannetti, Liliana Morgante, Alessandra Boe, Michele Patrizii, Uwe Warnken, Martina Schnölzer, Andrea Ciolfi, Chiara Di Stefano, Mauro Biffoni, Lucia Ricci‐Vitiani, Roberto Pallini, Ruggero De Maria

    Έκδοση 2017
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations από Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi‐Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    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 από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    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 από 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

    Έκδοση 2019
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population από Elisa Benetti, Tita Rossella, Ottavia Spiga, Andrea Ciolfi, Birolo Giovanni, Alessandro Bruselles, Doddato Gabriella, Giliberti Annarita, Marconi Caterina, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Trezza Alfonso, Valentino Floriana, Baldassarri Margherita, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Alessandra Renieri, Anna Maria Pinto

    Έκδοση 2020
    Λήψη πλήρους κειμένου
    Pré-impressão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome από 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

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy από 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

    Έκδοση 2016
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome από Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, N Falah, Frances A. High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T. Cho, Daniela Judith Claps Sepulveda, S. Pro, Roberta Battini, Giuseppe Zampino, M. Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia

    Έκδοση 2018
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells

    CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells από Marika Guercio, Domenico Orlando, Stefano Di Cecca, Matilde Sinibaldi, Iolanda Boffa, Simona Caruso, Zeinab Abbaszadeh, Antonio Camera, Biancamaria Cembrola, Katia Bovetti, Simona Manni, Ignazio Caruana, Roselia Ciccone, Francesca Del Bufalo, Pietro Merli, Luciana Vinti, Katia Girardi, Annalisa Ruggeri, Cristiano De Stefanis, Marco Pezzullo, Ezio Giorda, Marco Scarsella, Rita De Vito, Sabina Barresi, Andrea Ciolfi, Marco Tartaglia, Lorenzo Moretta, Franco Locatelli, Concetta Quintarelli, Biagio De Angelis

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment από 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

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies από Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah L. Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria Teresa Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim M. Keppler‐Noreuil, Stephen R. Braddock, Gabriele Gillessen‐Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan Lee, Célio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol‐Church, Marco Tartaglia

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    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 από 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

    Έκδοση 2016
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  16. 16
    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration από Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia

    Έκδοση 2018
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  17. 17
    Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

    Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function από Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo, Paolo Calligari, Agostina Pietrantoni, Andrea Ciolfi, Marco Ferilli, Cristina Calderan, Gerarda Cappuccio, Simone Martinelli, Elena Messina, Viviana Caputo, Ulrike Hüffmeier, Cyril Mignot, Stéphane Auvin, Yline Capri, Charles Marques Lourenço, Bianca Russell, Ahna Neustad, Nicola Brunetti Pierri, Boris Keren, André Reis, Julie S. Cohen, Alexis Heidlebaugh, Clayton A. Smith, Christian T. Thiel, Leonardo Salviati, Giuseppe Zampino, Philippe M. Campeau, Lorenzo Stella, Marco Tartaglia, Elisabetta Flex

    Έκδοση 2024
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  18. 18
    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” από Chae Syng Lee, He Fu, Nissan Vida Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Carlo Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover‐Fong, Nara Sobreira, Richard M. Pauli, Carlos A. Bacino, Deborah Krakow, Jillian S. Parboosingh, Patrick Yap, Ariana Kariminejad, Marie McDonald, Mariana Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti‐Furga, James T. Lu, D.H. Cohn, Marco Tartaglia, Brendan Lee, Dieter P. Reinhardt, Philippe M. Campeau

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  19. 19
    SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

    SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype από Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  20. 20
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies από Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Έκδοση 2019
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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