Search Results - Francesca Romana Lepri

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  1. 1
    RASopathies: Clinical Diagnosis in the First Year of Life

    RASopathies: Clinical Diagnosis in the First Year of Life by M. C. Digilio, Francesca Romana Lepri, Anwar Baban, Maria Lisa Dentici, Paolo Versacci, Rossella Capolino, Rosangela Ferese, Alessandro De Luca, Marco Tartaglia, Bruno Marino, Bruno Dallapiccola

    Published 2010
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  2. 2
    New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle

    New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle by Alessandro De Luca, Anna Sárközy, Rosangela Ferese, Federica Consoli, Francesca Romana Lepri, ML Dentici, Pasquale Vergara, Andrea De Zorzi, Paolo Versacci, MC Digilio, Bruno Marino, Bruno Dallapiccola

    Published 2010
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  3. 3
    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations by Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

    Published 2009
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  4. 4
    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing by Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola

    Published 2014
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  5. 5
    Telomere shortening and telomere position effect in mild ring 17 syndrome

    Telomere shortening and telomere position effect in mild ring 17 syndrome by Cecilia Surace, Francesco Berardinelli, Andrea Masotti, Maria Cristina Roberti, Letizia Da Sacco, Gemma D’Elia, Pietro Sirleto, M. Cristina Digilio, Raffaella Cusmai, Simona Grotta, Stefano Petrocchi, May El Hachem, Elisa Pisaneschi, Leonardo Ciocca, Serena Russo, Francesca Romana Lepri, Antonella Sgura, Adriano Angioni

    Published 2014
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  6. 6
    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies by Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Hölger Thiele, Maria Kousi, Francesca Romana Lepri, Larissa Wenzeck, Ian Blumenthal, A. Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah Morris‐Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

    Published 2015
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  7. 7
    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome by Marco Tartaglia, L Pennacchio, Chen Zhao, Kamlesh Yadav, Valentina Fodale, Anna Sárközy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Romana Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López Siguero, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar‐Sagi, Bruce D. Gelb

    Published 2006
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  8. 8
    Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

    Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum by Anna Sárközy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, M. Cristina Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Romana Lepri, Valentina Petrangeli, Maria Lisa Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni Battista Ferrero, Margherita Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia

    Published 2009
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  9. 9
    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype by Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Romana Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, M. Cristina Digilio, Maria Luigia Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni Battista Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, Willy M. Nillesen, Ravi Savarirayan, Martin Zenker, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Published 2010
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  10. 10
    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 by 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

    Published 2017
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  11. 11
    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 by 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

    Published 2009
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  12. 12
    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

    SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations by Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria Lisa Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria Felicia Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Silengo, Giovanni Battista Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Published 2011
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  13. 13
    A restricted spectrum of NRAS mutations causes Noonan syndrome

    A restricted spectrum of NRAS mutations causes Noonan syndrome by Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský, Lothar Gremer, Claudio Carta, Denise Horn, Amy E. Roberts, Francesca Romana Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P. Kratz, Francesca Pantaleoni, Maria Lisa Dentici, Victoria A. Joshi, Raju Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A. Patton, Margherita Silengo, Cesare Rossi, Giuseppe Zampino, Cristina Digilio, Liborio Stuppia, E Seemanová, L Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Published 2009
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  14. 14
    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome by Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca Romana Lepri, Elaine Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Čuturilo, Neda S. Kazemein Jasemi, Radovan Dvorský, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloès, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Published 2019
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  15. 15
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function by Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    Published 2020
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  16. 16
    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome by Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Romana Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, L Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lißewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Markéta Vlčková, E Seemanová, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloès, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia

    Published 2015
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  17. 17
    Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

    Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome by Lina Basel‐Vanagaite, Bruno Dallapiccola, Ramiro Ramírez‐Solis, Alexandra Segref, Hölger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria Lisa Dentici, Francesca Romana Lepri, Kay Hofmann, Adi Har‐Zahav, Edward J. Ryder, Natasha A. Karp, Jeanne Estabel, Anna-Karin Gerdin, Christine Podrini, Neil J. Ingham, Janine Altmüller, Gudrun Nürnberg, Peter Frommolt, Sonia Abdelhak, Metsada Pasmanik‐Chor, Osnat Konen, Richard I. Kelley, Mordechai Shohat, Peter Nürnberg, Jonathan Flint, Karen P. Steel, Thorsten Hoppe, Christian Kubisch, David J. Adams, Guntram Borck

    Published 2012
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  18. 18
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 by Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Published 2021
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  19. 19
    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis by Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia

    Published 2014
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  20. 20
    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes by Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorský, Francesca Romana Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence E. Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha A. Schrier Vergano, Katherine G. Langley, Douglas P. Larsen, Kelly D. Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay B. Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza‐Londono, Lucie Dupuis, Deborah A. Nickerson, Jessica X. Chong, Naomi Meeks, Kathleen Brown, Tahnee N. Causey, Megan T. Cho, Stephanie Demuth, M. Cristina Digilio, Bruce D. Gelb, Michael J. Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C. M. Hennekam, Marco Tartaglia, Ghayda Mirzaa

    Published 2018
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