Torthaí cuardaigh - Capra, Valeria

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

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Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects de réir Baumholtz, Amanda I., De Marco, Patrizia, Capra, Valeria, Ryan, Aimee K.

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Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome de réir Petruzzi, Massimo, Stella, Alessandro, Capra, Valeria, Contaldo, Maria, della Vella, Fedora

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Troubleshooting fine‐tuning procedures for qPCR system design de réir Raso, Alessandro, Mascelli, Samantha, Nozza, Paolo, Ugolotti, Elisabetta, Vanni, Irene, Capra, Valeria, Biassoni, Roberto

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management de réir Pavanello, Marco, Fiaschi, Pietro, Accogli, Andrea, Severino, Mariasavina, Tortora, Domenico, Piatelli, Gianluca, Capra, Valeria

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FZD6 is a novel gene for human neural tube defects de réir De Marco, Patrizia, Merello, Elisa, Rossi, Andrea, Piatelli, Gianluca, Cama, Armando, Kibar, Zoha, Capra, Valeria

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Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems de réir Capra, Valeria, Mirabelli-Badenier, Marisol, Stagnaro, Michela, Rossi, Andrea, Tassano, Elisa, Gimelli, Stefania, Gimelli, Giorgio

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

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Segmental Spinal Dysgenesis: Neuroradiologic Findings with Clinical and Embryologic Correlation de réir Tortori-Donati, Paolo, Fondelli, Maria Paola, Rossi, Andrea, Raybaud, Charles A., Cama, Armando, Capra, Valeria

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Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone de réir Crocco, Marco, Panciroli, Marta, Milanaccio, Claudia, Morerio, Cristina, Verrico, Antonio, Garrè, Maria Luisa, Di Iorgi, Natascia, Capra, Valeria

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Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway de réir Allache, Redouane, Lachance, Stéphanie, Guyot, Marie Claude, De Marco, Patrizia, Merello, Elisa, Justice, Monica J., Capra, Valeria, Kibar, Zoha

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Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway de réir Allache, Redouane, Lachance, Stéphanie, Guyot, Marie Claude, De Marco, Patrizia, Merello, Elisa, Justice, Monica J., Capra, Valeria, Kibar, Zoha

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Leiomyomatosis peritonealis disseminata in association with Currarino syndrome? de réir Nappi, Carmine, Sardo, Attilio Di Spiezio, Mandato, Vincenzo Dario, Bifulco, Giuseppe, Merello, Elisa, Savanelli, Antonio, Mignogna, Chiara, Capra, Valeria, Guida, Maurizio

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VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish de réir Reynolds, Annie, McDearmid, Jonathan R., Lachance, Stephanie, De Marco, Patrizia, Merello, Elisa, Capra, Valeria, Gros, Philippe, Drapeau, Pierre, Kibar, Zoha

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Contribution of VANGL2 mutations to isolated neural tube defects de réir Kibar, Zoha, Salem, Sandra, Bosoi, Ciprian M., Pauwels, Elodie, De Marco, Patrizia, Merello, Elisa, Bassuk, Alexander G, Capra, Valeria, Gros, Philippe

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Cost effective assay choice for rare disease study designs de réir Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè

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

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Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders de réir Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa

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Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development de réir Merello, Elisa, Tattini, Lorenzo, Magi, Alberto, Accogli, Andrea, Piatelli, Gianluca, Pavanello, Marco, Tortora, Domenico, Cama, Armando, Kibar, Zoha, Capra, Valeria, De Marco, Patrizia

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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants de réir Scala, Marcello, Anijs, Midas, Battini, Roberta, Madia, Francesca, Capra, Valeria, Scudieri, Paolo, Verrotti, Alberto, Zara, Federico, Minetti, Carlo, Vernes, Sonja C., Striano, Pasquale

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