Search Results - Silvio Alessandro Di Gioia

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  1. 1
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders by Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta

    Published 2017
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  2. 2
    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome

    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome by Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, Federica Vanoni, Andrea Superti‐Furga, Michaël Hofer, Carlo Rivolta

    Published 2015
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  3. 3
    FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

    FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies by Silvio Alessandro Di Gioia, Stef J.F. Letteboer, Corinne Kostic, Dikla Bandah‐Rozenfeld, Lisette Hetterschijt, Dror Sharon, Yvan Arsenijévic, Ronald Roepman, Carlo Rivolta

    Published 2012
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  4. 4
    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa by Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, Heidi Stöhr, Nela Maksimović, Joseph C. Corbo, Agnes B. Renner, Eberhart Zrenner, Govindasamy Kumaramanickavel, Marcus Karlstetter, Yvan Arsenijévic, Bernhard H. F. Weber, Andreas Gal, Carlo Rivolta

    Published 2010
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  5. 5
    Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

    Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects by Jong G. Park, Max A. Tischfield, Alicia Nugent, Long Cheng, Silvio Alessandro Di Gioia, Wai‐Man Chan, Gail Maconachie, Thomas M. Bosley, C. Gail Summers, David G. Hunter, Caroline D. Robson, Irène Gottlob, Elizabeth C. Engle

    Published 2016
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  6. 6
    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene by Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C. Engle, Sheila Unger, Frederic Shapiro, Andrea Superti‐Furga, Carlo Rivolta, Belinda Campos‐Xavier

    Published 2019
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  7. 7
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects by Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Béryl Royer‐Bertrand, Martial Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijévic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

    Published 2016
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  8. 8
    Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

    Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis by Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai, Brenda J. Barry, Tammy Ray, Michael Kosicki, Caroline D. Robson, Zhongyang Zhang, Thomas E. Collins, Alon Gelber, Brandon M. Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E. Warburton, Carol Van Ryzin, Tanya Lehky, Christopher Zalewski, Kelly King, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Flavia M. Facio, Narisu Narisu, Lori L. Bonnycastle, Amy J. Swift, Peter S. Chines, Jessica Bell, Suresh Mohan, Mary C. Whitman, Sandra E. Staffieri, James E. Elder, Joseph L. Demer, Alcy Torres, Elza Rachid, Christiane Al‐Haddad, Rose‐Mary Boustany, David A. Mackey, Angela F. Brady, María Fenollar‐Cortés, Mélanie Fradin, Tjitske Kleefstra, George W. Padberg, Salmo Raskin, Mário Teruo Sato, Stuart H. Orkin, Stephen C. J. Parker, Tessa A. Hadlock, Lisenka E.L.M. Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S. Collins, L Pennacchio, Irini Manoli, Elizabeth C. Engle

    Published 2023
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  9. 9
    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

    A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Sobreira, Wai‐Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian Hayes, Tim Morgan, David Markie, Michela Fagiolini, Amy J. Swift, Peter S. Chines, Carlos E. Speck‐Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Caroline Andrews, Brenda J. Barry, David G. Hunter, Sarah MacKinnon, Sherin Shaaban, Mónica Erazo, Tamiesha Frempong, Ke Hao, Thomas P. Naidich, Janet C. Rucker, Zhongyang Zhang, Barbara B. Biesecker, Lori L. Bonnycastle, Carmen C. Brewer, Brian P. Brooks, John A. Butman, Wade W. Chien, Kathleen Farrell, Edmond J. FitzGibbon, Andrea Gropman, Elizabeth Hutchinson, Minal S. Jain, Kelly King, Tanya Lehky, Janice Lee, Denise K. Liberton, Narisu Narisu, Scott M. Paul, Neda Sadeghi, Joseph Snow, Beth Solomon, Angela C. Summers, Camilo Toro, Audrey Thurm, Christopher Zalewski, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

    Published 2017
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  10. 10
    Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

    Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders by Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon, Mary C. Whitman, Paola M. Matos Ruiz, Brandon M. Pratt, Eleina England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A. Russell, Moriel Singer‐Berk, Silvio Alessandro Di Gioia, Arthur S. Lee, Caroline Andrews, Sherin Shaaban, Megan M. Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R. Bradford, Emma E. Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M. Mensching, Alba Sanchis-Juan, Jack Fu, Isaac Wong, Xuefang Zhao, Michael W. Wilson, Ben Weisburd, Monkol Lek, Hugo Hernán Abarca-Barriga, Christiane Al‐Haddad, Jeffrey Berman, Erick D. Bothun, Jenina Capasso, Oscar F. Chacón‐Camacho, Lan Chang, Stephen P. Christiansen, Maria Laura Ciccarelli, Monique Cordonnier, Gerald F. Cox, Cynthia J. Curry, Linda R. Dagi, Thomas Lee Dahm, Karen L. David, Bradley V. Davitt, Teresa de Berardinis, Joseph L. Demer, Julie Désir, Fabiana D’Esposito, Arlene V. Drack, Eric Eggenberger, James E. Elder, Alexandra T. Elliott, K. David Epley, Hagit Baris Feldman, Carlos R. Ferreira, Maree Flaherty, Anne B. Fulton, Christina Gerth‐Kahlert, Irène Gottlob, Stephen Grill, Dorothy Halliday, Frank Hanisch, Eleanor Hay, Gena Heidary, C. L. Holder, Jonathan C. Horton, Alessandro Iannaccone, Sherwin J. Isenberg, Suzanne C. Johnston, Alon Kahana, James A. Katowitz, Melanie Kazlas, Natalie C. Kerr, Virginia Kimonis, Melissa W. Ko, Feray Koc, Dorte Ancher Larsen, Guillermo Lay‐Son, Danielle Ledoux, Alex V. Levin, Ronald Levy, Christopher J. Lyons, David A. Mackey, Adriano Magli, Iason S. Mantagos, Candice Marti, Isabelle Maystadt, Fiona McKenzie, Manoj P. Menezes, Claudia N. Mikail, David T. Miller, Kathryn B. Miller, Monte D. Mills, Kaori Miyana, Hans Ulrik Møller

    Published 2024
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