Resultats de la cerca - Valeria Capra

Refinar resultats
  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 per Mingqin Wang, Patrizia De Marco, Valeria Capra, Zoha Kibar

    Publicat 2019
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per Patrizia De Marco, Elisa Merello, Alessandro Consales, Gianluca Piatelli, Armando Cama, Zoha Kibar, Valeria Capra

    Publicat 2012
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Patrizia De Marco, Elisa Merello, Andrea Rossi, Gianluca Piatelli, Armando Cama, Zoha Kibar, Valeria Capra

    Publicat 2011
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Patrizia De Marco, Elisa Merello, Maria Grazia Calevo, Samantha Mascelli, Alessandro Raso, Armando Cama, Valeria Capra

    Publicat 2005
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Pietro Fiaschi, Marco Pavanello, Alessia Imperato, Villiam Dallolio, Andrea Accogli, Valeria Capra, Alessandro Consales, Armando Cama, Gianluca Piatelli

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  6. 6
    Contribution of VANGL2 mutations to isolated neural tube defects

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

    Publicat 2010
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Jeong Hwa Seo, Yulia Zilber, Sevda Babayeva, J. Liu, Paulina Kyriakopoulos, Patrizia De Marco, Elisa Merello, Valeria Capra, Philippe Gros, Elena Torban

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  8. 8
    Reduced folate carrier polymorphism (80A→G) and neural tube defects

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

    Publicat 2003
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Ciprian M. Bosoi, Valeria Capra, Redouane Allache, Vincent Quoc‐Huy Trinh, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Alexander G. Bassuk, Zoha Kibar

    Publicat 2011
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Patrizia De Marco, Maria Grazia Calevo, Anna Moroni, L Arata, Elisa Merello, Richard H. Finnell, Hao Zhu, L. Andreussi, Armando Cama, Valeria Capra

    Publicat 2002
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  11. 11
    Novel mutations in<i>VANGL1</i>in neural tube defects

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

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  12. 12
    Diagnostic Approach to Macrocephaly in Children

    Diagnostic Approach to Macrocephaly in Children per 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

    Publicat 2022
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2019
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2010
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  15. 15
    Mutations in<i>VANGL1</i>Associated with Neural-Tube Defects

    Mutations in<i>VANGL1</i>Associated with Neural-Tube Defects per 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

    Publicat 2007
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2015
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations per 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

    Publicat 2014
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2021
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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> per 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

    Publicat 2008
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: