檢索結果 - Corrado Romano

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  1. 1
    Tinea incognito in Italy: a 15‐year survey

    Tinea incognito in Italy: a 15‐year survey 由 Corrado Romano, E. Maritati, Claudia Gianni

    出版 2006
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  2. 2
    Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

    Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are... 由 Paolo Bosco, Rosa‐Maria Guéant‐Rodriguez, Guido Anello, Concetta Barone, Farès Namour, Filippo Caraci, Antonino Romano, Corrado Romano, Jean‐Louis Guéant

    出版 2003
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  3. 3
    Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

    Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations 由 Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni Battista Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi, Pio D’Adamo

    出版 2014
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  4. 4
    The molecular landscape of ASPM mutations in primary microcephaly

    The molecular landscape of ASPM mutations in primary microcephaly 由 Adeline K. Nicholas, Eric A. Swanson, James J. Cox, Gulshan Karbani, Sabreena Malik, Kelly Springell, Daniel J. Hampshire, M Ahmed, Jacquelyn Bond, Daniela Benedetto, Marco Fichera, Corrado Romano, William B. Dobyns, C. Geoffrey Woods

    出版 2008
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  5. 5
    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 由 Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe, Carl Baker, Laura Vives, Tiffany Vu, Neil Shafer, Raphael Bernier, Giovanni Battista Ferrero, Margherita Silengo, Stephen T. Warren, Carlos S. Moreno, Marco Fichera, Corrado Romano, Wendy H. Raskind, Evan E. Eichler

    出版 2011
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  6. 6
    Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

    Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study 由 Margherita Bonamico, P. Mariani, Helene Maria Danesi, Massimo Crisogianni, Pinella Failla, G Gemme, A. Rasore Quartino, Aldo Giannotti, Massimo Castro, Fiorella Balli, Margherita Lecora, Generoso Andria, Graziella Guariso, Orazio Gabrielli, Carlo Catassi, R Lazzari, Nicoletta Ansaldi Balocco, S. De Virgiliis, Franco Culasso, Corrado Romano

    出版 2001
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  7. 7
    Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations

    Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations 由 Rosa‐Maria Guéant‐Rodriguez, Jean‐Louis Guéant, Renée Debard, Sylvie Thirion, Lu Hong, Jean‐Pierre Bronowicki, Farès Namour, Nicodème Chabi, Ambaliou Sanni, Guido Anello, Paolo Bosco, Corrado Romano, Emile Amouzou, Heidy R Arrieta, Beatriz Sánchez‐Hernández, Antonino Romano, Bernard Herbeth, Jean-Claude Guilland, Osvaldo M. Mutchinick

    出版 2006
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  8. 8
    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations 由 Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Désirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, M. Di Rocco, Francesca Faravelli, F. Dagna Bricarelli, María Clara Bonaglia, MariaFrancesca Bedeschi, Renato Borgatti

    出版 2001
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  9. 9
    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism

    The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism 由 Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar Abdul‐Rahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy

    出版 2014
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  10. 10
    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 由 Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Denglin Li, David G. Amaral, Francesca Cristofoli, Hilde Peeters, E Haan, Corrado Romano, Heather C. Mefford, Ingrid E. Scheffer, Jozef Gécz, Bert B.A. de Vries, Evan E. Eichler

    出版 2015
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  11. 11
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP 由 Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    出版 2014
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  12. 12
    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females 由 Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi

    出版 2009
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  13. 13
    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 由 Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

    出版 2009
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  14. 14
    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 由 Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler

    出版 2008
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  15. 15
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development 由 Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    出版 2014
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  16. 16
    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 由 Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi

    出版 2007
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  17. 17
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 由 Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    出版 2017
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  18. 18
    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing 由 Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Bregje W.M. van Bon, Joep de Ligt, Christian Gilissen, Jayne Y. Hehir‐Kwa, Kornelia Neveling, Marisol del Rosario, Gausiya Hira, S Reitano, Girolamo Aurelio Vitello, Pinella Failla, Donatella Greco, Marco Fichera, Ornella Galesi, Tjitske Kleefstra, Marie T. Greally, Charlotte W. Ockeloen, Marjolein H. Willemsen, Ernie M.H.F. Bongers, Irene M. Janssen, Rolph Pfundt, Joris A. Veltman, Corrado Romano, Michèl A.A.P. Willemsen, Hans van Bokhoven, Han G. Brunner, Bert B.A. de Vries, Arjan P.M. de Brouwer

    出版 2013
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  19. 19
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 由 Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    出版 2011
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  20. 20
    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Refining analyses of copy number variation identifies specific genes associated with developmental delay 由 Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

    出版 2014
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