檢索結果 - De Marco, Patrizia

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects 由 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 由 Baumholtz, Amanda I., De Marco, Patrizia, Capra, Valeria, Ryan, Aimee K.

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

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

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Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4 由 Ognibene, Marzia, De Marco, Patrizia, Parodi, Stefano, Meli, Mariaclaudia, Di Cataldo, Andrea, Zara, Federico, Pezzolo, Annalisa

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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 由 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 由 Allache, Redouane, Lachance, Stéphanie, Guyot, Marie Claude, De Marco, Patrizia, Merello, Elisa, Justice, Monica J., Capra, Valeria, Kibar, Zoha

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VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish 由 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 由 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 由 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 由 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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Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development 由 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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RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 由 Romanisio, Giulia, Chelleri, Cristina, Scala, Marcello, Piccolo, Gianluca, Carlini, Barbara, Gatti, Laura, Capra, Valeria, Zara, Federico, Bersano, Anna, Pavanello, Marco, De Marco, Patrizia, Diana, Maria Cristina

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LGG-35. Dyslipidemia in children treated with BRAF inhibitors for brain tumor, a new side effect? A single center retrospective study 由 Crocco, Marco, Verrico, Antonio, Milanaccio, Claudia, Piccolo, Gianluca, Gaggero, Gabriele, De Marco, Patrizia, Iurilli, Valentina, Profio, Sonia Di, Calevo, Maria Grazia, Casalini, Emilio, Iorgi, Natascia Di

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Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells 由 Degli Esposti, Chiara, Iadarola, Barbara, Maestri, Simone, Beltrami, Cristina, Lavezzari, Denise, Morini, Martina, De Marco, Patrizia, Erminio, Giovanni, Garaventa, Alberto, Zara, Federico, Delledonne, Massimo, Ognibene, Marzia, Pezzolo, Annalisa

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SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma 由 Piatelli, Gianluca, Pavanello, Marco, Piccolo, Gianluca, Rossi, Andrea, Garrè, Maria Luisa, De Marco, Patrizia, Iurilli, Valentina, Antonelli, Manila, Gaggero, Gabriele, Caruggi, Samuele, Verrico, Antonio, Crocco, Marco, Milanaccio, Claudia

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Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord 由 Mascelli, Samantha, Severino, Mariasavina, Raso, Alessandro, Nozza, Paolo, Tassano, Elisa, Morana, Giovanni, De Marco, Patrizia, Merello, Elisa, Milanaccio, Claudia, Pavanello, Marco, Rossi, Andrea, Cama, Armando, Garrè, Maria Luisa, Capra, Valeria

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Sacral agenesis: a pilot whole exome sequencing and copy number study 由 Porsch, Robert M., Merello, Elisa, De Marco, Patrizia, Cheng, Guo, Rodriguez, Laura, So, Manting, Sham, Pak C., Tam, Paul K., Capra, Valeria, Cherny, Stacey S., Garcia-Barcelo, Maria-Mercè, Campbell, Desmond D.

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Whole exome sequencing identifies novel predisposing genes in neural tube defects 由 Lemay, Philippe, De Marco, Patrizia, Traverso, Monica, Merello, Elisa, Dionne‐Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, Audibert, François, Michaud, Jacques L., Cama, Armando, Rouleau, Guy A., Kibar, Zoha, Capra, Valeria

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Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? 由 Crocco, Marco, Verrico, Antonio, Milanaccio, Claudia, Piccolo, Gianluca, De Marco, Patrizia, Gaggero, Gabriele, Iurilli, Valentina, Di Profio, Sonia, Malerba, Federica, Panciroli, Marta, Giordano, Paolo, Calevo, Maria Grazia, Casalini, Emilio, Di Iorgi, Natascia, Garrè, Maria Luisa

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