Výsledky vyhledávání - Paolo Prontera

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  1. 1
    Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus

    Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus Autor Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Maria Rita Passos‐Bueno, Emilio Donti

    Vydáno 2011
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  2. 2
    Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

    Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene Autor Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti‐Ferreira, Susanna Esposito, Gabriela Stangoni

    Vydáno 2019
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  3. 3
    2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

    2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment Autor Alister P. W. Funnell, Paolo Prontera, Valentina Ottaviani, Maria Piccione, Antonino Giambona, Aurelio Maggio, Fiorella Ciaffoni, Sandra Stehling-Sun, Manuela Marra, Francesca Masiello, Lilian Varricchio, J Stamatoyannopoulos, Anna Ritá Migliaccio, Thalia Papayannopoulou

    Vydáno 2015
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  4. 4
    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations

    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations Autor Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini

    Vydáno 2017
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  5. 5
    JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects

    JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects Autor Tiziana de Filippis, Federica Marelli, Gabriella Nebbia, Patrizia Porazzi, Sabrina Corbetta, Laura Fugazzola, Roberto Gastaldi, Maria Cristina Vigone, Roberta Biffanti, Daniela Frizziero, Luana Mandarà, Paolo Prontera, Mariacarolina Salerno, Mohamad Maghnie, Natascia Tiso, Giorgio Radetti, Giovanna Weber, Luca Persani

    Vydáno 2016
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  6. 6
    Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies

    Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies Autor Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Conti, Laura Cortesi, Rolando Maria D’Angelillo, Gaetano Facchini, Lorena Incorvaia, A. Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda

    Vydáno 2025
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  7. 7
    Stem cells from human amniotic fluid exert immunoregulatory function <i>via</i> secreted indoleamine 2,3‐dioxygenase1

    Stem cells from human amniotic fluid exert immunoregulatory function <i>via</i> secreted indoleamine 2,3‐dioxygenase1 Autor Rita Romani, Irene Pirisinu, Mario Calvitti, Maria Teresa Pallotta, Marco Gargaro, Giovanni Bistoni, Carmine Vacca, Alessandro Di Michele, Ciriana Orabona, Jessica Rosati, Matteo Pirro, Stefano Giovagnoli, Davide Matino, Paolo Prontera, Gabriella Rosi, Ursula Grohmann, Vincenzo Nicola Talesa, Emilio Donti, Paolo Puccetti, Francesca Fallarino

    Vydáno 2015
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  8. 8
    DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

    DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies Autor Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, Michael A. Levy, Maria Rosaria Piemontese, Marco Castori, Maria Accadia, Elisa Biamino, Matteo Della Monica, Marilena Carmela Di Giacomo, Cristina Gervasini, Silvia Maitz, Daniela Melis, Donatella Milani, Maria Piccione, Paolo Prontera, Angelo Selicorni, Bekim Sadiković, Giuseppe Merla

    Vydáno 2021
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  9. 9
    A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

    A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes Autor Silvia Russo, Luciano Calzari, Alessandro Mussa, Ester Mainini, Matteo Cassina, Stefania Di Candia, Maurizio Clementi, Sara Guzzetti, Silvia Tabano, Monica Miozzo, Silvia Maria Sirchia, Palma Finelli, Paolo Prontera, Silvia Maitz, Giovanni Sorge, Annalisa Calcagno, Mohamad Maghnie, Maria Teresa Divizia, Daniela Melis, Emanuela Manfredini, Giovanni Battista Ferrero, Vanna Pecile, Lidia Larizza

    Vydáno 2016
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  10. 10
    Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

    Research Progresses in Understanding the Pathophysiology of Moyamoya Disease Autor Anna Bersano, Stéphanie Guey, Gloria Bedini, Sara Nava, Dominique Hervé, Peter Vajkoczy, Turgut Tatlisumak, Marika Sareela, Albert van der Zwan, Catharina J.M. Klijn, Kees P. J. Braun, Annick Kronenburg, Francesco Acerbi, Martin M. Brown, Lionel Calvière, Charlotte Cordonnier, Hilde Hénon, L. Thines, Nadia Khan, Marcus Czabanka, Markus Kraemer, Robert Simister, Paolo Prontera, Elisabeth Tournier‐Lasserve, Eugenio Parati

    Vydáno 2016
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  11. 11
    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB Autor Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

    Vydáno 2006
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  12. 12
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome Autor Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Şimşek‐Kiper, Filippo Beleggia, E. Ferda Perçin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elçioğlu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, Aengus Stewart, Dian Donnai, Tim M. Strom, Koray Boduroğlu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik

    Vydáno 2015
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  13. 13
    The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

    The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development Autor Andrew T.N. Tebbenkamp, Luis Varela, Jinmyung Choi, Miguel I. Paredes, Alice Maria Giani, Jae Eun Song, Matija Šestan-Peša, Daniel Franjic, André M. M. Sousa, Liu Hon, Mingfeng Li, Candace Bichsel, Marco Koch, Klara Szigeti‐Buck, Fuchen Liu, Zhuo Li, Yuka Imamura Kawasawa, Constantinos D. Paspalas, Yann S. Mineur, Paolo Prontera, Giuseppe Merla, Marina R. Picciotto, Amy F.T. Arnsten, Tamás L. Horváth, Nenad Šestan

    Vydáno 2018
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  14. 14
    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients Autor Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perrìa, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, E. Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante, Giuseppe Merla

    Vydáno 2014
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  15. 15
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients Autor Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    Vydáno 2011
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  16. 16
    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 Autor Erik Boot, Nancy J. Butcher, Sean Udow, Connie Marras, Kin Y. Mok, Satoshi Kaneko, Matthew J. Barrett, Paolo Prontera, Brian D. Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Téodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, K.R. Mills, Nigel Williams, Nicholas Wood, Jan Booij, Anthony E. Lang, Anne S. Bassett, Nicola Tambasco, Gabriela M. Repetto, Rosemarie Fritsch, Barber M Tinselboer, Jacob Vorstman, Luis A. Pellene, Stephen G. Reich, Claudia Schulte, A. Dekker

    Vydáno 2018
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  17. 17
    FOXI3 pathogenic variants cause one form of craniofacial microsomia

    FOXI3 pathogenic variants cause one form of craniofacial microsomia Autor Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci‐Sparascio, Daniela Melis, Bruno Dallapiccola, M. Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong‐Biao Zhang, Stylianos E. Antonarakis

    Vydáno 2023
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  18. 18
    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Autor Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

    Vydáno 2018
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  19. 19
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... Autor Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    Vydáno 2021
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  20. 20
    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome Autor David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes

    Vydáno 2020
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