Výsledky vyhledávání - Gioacchino Scarano

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  1. 1
    WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report

    WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report Autor Anna Biason‐Lauber, Gianpaolo De Filippo, Daniel Konrad, Gioacchino Scarano, A. Nazzaro, Ε. Schoenle

    Vydáno 2006
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  2. 2
    Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

    Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome Autor José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli, Silvia Spena, Maria Piccione, Gioacchino Scarano, Angelo Selicorni, Ángel Barco, Lidia Larizza

    Vydáno 2011
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  3. 3
    Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

    Prevalence and determinants of preconception folic acid use: an Italian multicenter survey Autor Roy M. Nilsen, Emanuele Leoncini, Paolo Gastaldi, Valentina Allegri, Rocco Agostino, Francesca Faravelli, Federica Ferrazzoli, Enrico Finale, Paolo Ghirri, Gioacchino Scarano, Pierpaolo Mastroiacovo

    Vydáno 2016
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  4. 4
    Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

    Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C Autor Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, A. Leclerc, Maria Rosaria D’Apice, Catherine Massart, Francesca Capon, Paolo Sbraccia, Massimo Federici, Renato Lauro, Cosimo Tudisco, R Pallotta, Gioacchino Scarano, Bruno Dallapiccola, Luciano Merlini, Gisèle Bonne

    Vydáno 2002
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  5. 5
    Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

    Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects Autor Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini, Paolo Rossi, M. Cristina Digilio, Claudio Pignata

    Vydáno 2014
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  6. 6
    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients Autor Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, P Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, O. Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

    Vydáno 2006
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  7. 7
    Prenatal diagnosis of severe structural congenital malformations in Europe

    Prenatal diagnosis of severe structural congenital malformations in Europe Autor Ester Garne, Maria Loane, Helen Dolk, C. De Vigan, Gioacchino Scarano, David Tucker, Claude Stoll, Blanca Gener, Anna Pierini, Vera Nelen, Christine Rösch, Y. Gillerot, Maria Feijoo‐Cid, Radka Tincheva, Annette Queißer‐Luft, M. C. Addor, Claudia Mosquera, Miriam Gatt, Ingeborg Barišić

    Vydáno 2004
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  8. 8
    Molecular analysis of holoprosencephaly in South America

    Molecular analysis of holoprosencephaly in South America Autor Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo A. Costa Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise P. Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Héctor N. Seuánez, Eduardo E. Castilla, Iêda M. Orioli

    Vydáno 2014
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  9. 9
    Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

    Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe Autor Ingeborg Barišić, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie‐Claude Addor, Larraitz Arriola, Jorieke E. H. Bergman, Sebastiano Bianca, Bérénice Doray, Babak Khoshnood, Kari Klungsøyr, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rißmann, Catherine Rounding, Annette Queißer‐Luft, Gioacchino Scarano, David Tucker

    Vydáno 2014
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  10. 10
    Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

    Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of... Autor Eva Bermejo, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rißmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabová, María‐Luisa Martínez‐Frías

    Vydáno 2011
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  11. 11
    Sex and congenital malformations: An international perspective

    Sex and congenital malformations: An international perspective Autor Alessandra Lisi, Lorenzo D. Botto, Mónica Rittler, Eduardo E. Castilla, Fabrizio Bianchi, Beverley Botting, Hermien E. K. de Walle, Jon D. Erickson, Miriam Gatt, Catherine De Vigan, Lorentz M. Irgens, William Stacy Johnson, Paul Lancaster, Paul Merlob, Osvaldo M. Mutchinick, Annukka Ritvanen, Elisabeth Robert, Gioacchino Scarano, Claude Stoll, Pierpaolo Mastroiacovo

    Vydáno 2005
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  12. 12
    Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

    Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research Autor Iêda M. Orioli, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo, Fabrizio Bianchi, Mark A. Canfield, Maurizio Clementi, Adolfo Correa, Melinda Csáky‐Szunyogh, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Anke Rißmann, Annukka Ritvanen, Gioacchino Scarano, Elena Szabová, Eduardo E. Castilla

    Vydáno 2011
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  13. 13
    International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

    International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? Autor Lorenzo D. Botto, Alessandra Lisi, Elisabeth Robert‐Gnansia, Jon D. Erickson, Dan J. Stein, Pierpaolo Mastroiacovo, Beverley Botting, Guido Cocchi, Catherine De Vigan, Hermien E. K. de Walle, Maria Feijoo‐Cid, Lorentz M. Irgens, Bob McDonnell, Paul Merlob, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Júlia Métneki, Claude Stoll, R. W. Smithells, J Goujard

    Vydáno 2005
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  14. 14
    Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

    Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review Autor Iêda M. Orioli, Emmanuelle Amar, Jazmín Arteaga‐Vázquez, Marian K. Bakker, Sebastiano Bianca, Lorenzo D. Botto, Maurizio Clementi, Adolfo Correa, Melinda Csáky‐Szunyogh, Emanuele Leoncini, Zhu Li, Jorge S. López‐Camelo, R. Brian Lowry, Lisa K. Marengo, María‐Luisa Martínez‐Frías, Pierpaolo Mastroiacovo, Margery Morgan, Anna Pierini, Annukka Ritvanen, Gioacchino Scarano, Elena Szabová, Eduardo E. Castilla

    Vydáno 2011
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  15. 15
    Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

    Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the lite... Autor Eva Bermejo, Lourdes Cuevas, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Fabrizio Bianchi, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rißmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabová, María‐Luisa Martínez‐Frías

    Vydáno 2011
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  16. 16
    Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

    Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature Autor Csaba Siffel, Adolfo Correa, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo, Sebastiano Bianca, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Melinda Csáky‐Szunyogh, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Lisa K. Marengo, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Anke Rißmann, Annukka Ritvanen, Gioacchino Scarano, Elena Szabová, Richard S. Olney

    Vydáno 2011
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  17. 17
    Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

    Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research Autor Osvaldo M. Mutchinick, Leonora Luna‐Muñoz, Emmanuelle Amar, Marian K. Bakker, Maurizio Clementi, Guido Cocchi, Maria da Graça Dutra, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Li Zhu, Brian Lowry, Lisa K. Marengo, María‐Luisa Martínez‐Frías, Pierpaolo Mastroiacovo, Júlia Métneki, Margery Morgan, Anna Pierini, Anke Rissman, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabová, Jazmín Arteaga‐Vázquez

    Vydáno 2011
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  18. 18
    Identification of novel mutations in the<i>SLC25A15</i>gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

    Identification of novel mutations in the<i>SLC25A15</i>gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study Autor Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi‐Vici, Eleonora Paradies, Matthias R. Baumgartner, Yin‐Hsiu Chien, C. Loguercio, Hélène Ogier de Baulny, Marie‐Cécile Nassogne, Manuel Schiff, Federica Deodato, Giancarlo Parenti, S. Lane Rutledge, Marta Vilaseca, Mariarosa Anna Beatrice Melone, Gioacchino Scarano, Luiz Aldamiz-Echevarría, G. T. N. Besley, John H. Walter, Eugenia Martínez‐Hernández, José Manuel Hernández, Ciro Leonardo Pierri, Ferdinando Palmieri, Filippo M. Santorelli

    Vydáno 2009
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  19. 19
    Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

    Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations Autor Emanuele Leoncini, Giovanni Baranello, Iêda M. Orioli, Göran Annerén, Marian K. Bakker, Fabrizio Bianchi, Carol Bower, Mark A. Canfield, Eduardo E. Castilla, Guido Cocchi, Adolfo Correa, Catherine De Vigan, Bérénice Doray, Marcia L. Feldkamp, Miriam Gatt, Lorentz M. Irgens, R. Brian Lowry, Alice Maraschini, Robert Mc Donnell, Margery Morgan, Osvaldo M. Mutchinick, Simone Poetzsch, Merilyn Riley, Annukka Ritvanen, Élisabeth Gnansia, Gioacchino Scarano, A Šípek, Romano Tenconi, Pierpaolo Mastroiacovo

    Vydáno 2008
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  20. 20
    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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