Search Results - De Marco, Patrizia

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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 by Wang, Mingqin, de Marco, Patrizia, Capra, Valeria, Kibar, Zoha

    Published 2019
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  2. 2
    Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects

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

    Published 2020
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  3. 3
    FZD6 is a novel gene for human neural tube defects

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

    Published 2011
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  4. 4
    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 by De Marco, Patrizia, Merello, Elisa, Consales, Alessandro, Piatelli, Gianluca, Cama, Armando, Kibar, Zoha, Capra, Valeria

    Published 2012
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  5. 5
    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

    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 by Ognibene, Marzia, De Marco, Patrizia, Parodi, Stefano, Meli, Mariaclaudia, Di Cataldo, Andrea, Zara, Federico, Pezzolo, Annalisa

    Published 2022
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  6. 6
    Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

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

    Published 2014
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  7. 7
    Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

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

    Published 2014
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  8. 8
    VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish

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

    Published 2010
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  9. 9
    Contribution of VANGL2 mutations to isolated neural tube defects

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

    Published 2010
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  10. 10
    Cost effective assay choice for rare disease study designs

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

    Published 2015
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  11. 11
    Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

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

    Published 2011
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  12. 12
    Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

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

    Published 2017
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  13. 13
    RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

    RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome by 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

    Published 2021
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  14. 14
    LGG-35. Dyslipidemia in children treated with BRAF inhibitors for brain tumor, a new side effect? A single center retrospective study

    LGG-35. Dyslipidemia in children treated with BRAF inhibitors for brain tumor, a new side effect? A single center retrospective study by 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

    Published 2022
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  15. 15
    Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells

    Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells by 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

    Published 2021
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  16. 16
    SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma

    SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma by 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

    Published 2022
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  17. 17
    Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord

    Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord by 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

    Published 2014
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  18. 18
    Sacral agenesis: a pilot whole exome sequencing and copy number study

    Sacral agenesis: a pilot whole exome sequencing and copy number study by 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.

    Published 2016
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  19. 19
    Whole exome sequencing identifies novel predisposing genes in neural tube defects

    Whole exome sequencing identifies novel predisposing genes in neural tube defects by 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

    Published 2018
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  20. 20
    Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect?

    Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? by 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

    Published 2022
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