檢索結果 - Valeria Capra

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  1. 1
    Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

    Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects 由 Mingqin Wang, Patrizia De Marco, Valeria Capra, Zoha Kibar

    出版 2019
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  2. 2
    Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

    Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects 由 Patrizia De Marco, Elisa Merello, Alessandro Consales, Gianluca Piatelli, Armando Cama, Zoha Kibar, Valeria Capra

    出版 2012
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  3. 3
    <i>FZD6</i>is a novel gene for human neural tube defects

    <i>FZD6</i>is a novel gene for human neural tube defects 由 Patrizia De Marco, Elisa Merello, Andrea Rossi, Gianluca Piatelli, Armando Cama, Zoha Kibar, Valeria Capra

    出版 2011
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  4. 4
    Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G&gt;A polymorphism for neural tube defect risk

    Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G&gt;A polymorphism for neural tube defect risk 由 Patrizia De Marco, Elisa Merello, Maria Grazia Calevo, Samantha Mascelli, Alessandro Raso, Armando Cama, Valeria Capra

    出版 2005
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  5. 5
    Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience

    Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience 由 Pietro Fiaschi, Marco Pavanello, Alessia Imperato, Villiam Dallolio, Andrea Accogli, Valeria Capra, Alessandro Consales, Armando Cama, Gianluca Piatelli

    出版 2016
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  6. 6
    Contribution of VANGL2 mutations to isolated neural tube defects

    Contribution of VANGL2 mutations to isolated neural tube defects 由 Zoha Kibar, Sandra Salem, CM Bosoi, Ewald Pauwels, Patrizia De Marco, Elisa Merello, Alexander G. Bassuk, Valeria Capra, Philippe Gros

    出版 2010
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  7. 7
    Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

    Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans 由 Jeong Hwa Seo, Yulia Zilber, Sevda Babayeva, J. Liu, Paulina Kyriakopoulos, Patrizia De Marco, Elisa Merello, Valeria Capra, Philippe Gros, Elena Torban

    出版 2011
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  8. 8
    Reduced folate carrier polymorphism (80A→G) and neural tube defects

    Reduced folate carrier polymorphism (80A→G) and neural tube defects 由 Patrizia De Marco, Maria Grazia Calevo, Anna Moroni, Elisa Merello, Alessandro Raso, Richard H. Finnell, Huiping Zhu, L. Andreussi, Armando Cama, Valeria Capra

    出版 2003
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  9. 9
    Identification and characterization of novel rare mutations in the planar cell polarity gene<i>PRICKLE1</i>in human neural tube defects

    Identification and characterization of novel rare mutations in the planar cell polarity gene<i>PRICKLE1</i>in human neural tube defects 由 Ciprian M. Bosoi, Valeria Capra, Redouane Allache, Vincent Quoc‐Huy Trinh, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Alexander G. Bassuk, Zoha Kibar

    出版 2011
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  10. 10
    Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

    Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population 由 Patrizia De Marco, Maria Grazia Calevo, Anna Moroni, L Arata, Elisa Merello, Richard H. Finnell, Hao Zhu, L. Andreussi, Armando Cama, Valeria Capra

    出版 2002
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  11. 11
    Novel mutations in<i>VANGL1</i>in neural tube defects

    Novel mutations in<i>VANGL1</i>in neural tube defects 由 Zoha Kibar, Ciprian M. Bosoi, Megan Kooistra, Sandra Salem, Richard H. Finnell, Patrizia De Marco, Elisa Merello, Alexander G. Bassuk, Valeria Capra, Philippe Gros

    出版 2009
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  12. 12
    Diagnostic Approach to Macrocephaly in Children

    Diagnostic Approach to Macrocephaly in Children 由 Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra

    出版 2022
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  13. 13
    Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

    Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 由 Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D’Amico, Vincenzo Nigro, Valeria Capra

    出版 2019
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  14. 14
    Mutation Analysis of <i>CCM1, CCM2</i> and <i>CCM3</i> Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

    Mutation Analysis of <i>CCM1, CCM2</i> and <i>CCM3</i> Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation 由 Rosalia D’Angelo, Valéria Marini, Carmela Rinaldi, Paola Origone, Alessandra Dorcaratto, Maria Avolio, Luca Goitre, Marco Forni, Valeria Capra, Concetta Alafaci, Cristina Mareni, Cecilia Garrè, Placido Bramanti, Antonina Sidoti, Saverio Francesco Retta, A. Amato

    出版 2010
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  15. 15
    Mutations in<i>VANGL1</i>Associated with Neural-Tube Defects

    Mutations in<i>VANGL1</i>Associated with Neural-Tube Defects 由 Zoha Kibar, Elena Torban, Jonathan R. McDearmid, Annie Reynolds, Joanne Berghout, Mélissa Mathieu, I A Kirillova, Patrizia De Marco, Elisa Merello, Julie M. Hayes, John B. Wallingford, Pierre Drapeau, Valeria Capra, Philippe Gros

    出版 2007
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  16. 16
    Loss-of-function de novo mutations play an important role in severe human neural tube defects

    Loss-of-function de novo mutations play an important role in severe human neural tube defects 由 Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar

    出版 2015
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  17. 17
    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations 由 Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, S. Giovannini, Francesca Notturno, Fausta Ciccocioppo, L. Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leonilda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco

    出版 2014
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  18. 18
    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor

    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor 由 Franck Bourdeaut, Delphine Lequin, Laurence Brugières, Stéphanie Reynaud, Christelle Dufour, François Doz, Nicolás André, Jean‐Louis Stéphan, Yves Pérel, Odile Oberlin, Daniel Orbach, Christophe Bergeron, Xavier Rialland, Paul Fréneaux, Dominique Ranchère, Dominique Figarella‐Branger, G. Audry, Stéphanie Puget, D. Gareth Evans, Joan Carles Ferreres, Valeria Capra, Véronique Mosseri, Isabelle Coupier, Marion Gauthier‐Villars, Gaëlle Pierron, Olivier Delattre

    出版 2011
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  19. 19
    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study 由 Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara

    出版 2021
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  20. 20
    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i>

    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i> 由 Dorota Szumska, Guido Pieles, Rachid Essalmani, Michal Bilski, Daniel Mesnard, Kulvinder Kochar Kaur, Angela Franklyn, Kamel El Omari, Joanna M. Jefferis, Jamie Bentham, Jennifer M. Taylor, Jürgen E. Schneider, Sebastian J. Arnold, Paul Johnson, Zuzanna Tymowska‐Lalanne, D.K. Stammers, Kieran Clarke, Stefan Neubauer, Andrew P. Morris, Steve D. M. Brown, Charles Shaw‐Smith, Armando Cama, Valeria Capra, Jiannis Ragoussis, Daniel B. Constam, Nabil G. Seidah, Annik Prat, Shoumo Bhattacharya

    出版 2008
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