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

por Wang, Mingqin, de Marco, Patrizia, Capra, Valeria, Kibar, Zoha
Publicado 2019

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

por Baumholtz, Amanda I., De Marco, Patrizia, Capra, Valeria, Ryan, Aimee K.
Publicado 2020

Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis

por Ognibene, Marzia, De Marco, Patrizia, Amoroso, Loredana, Cangelosi, Davide, Zara, Federico, Parodi, Stefano, Pezzolo, Annalisa
Publicado 2023

Neuroblastoma Patients’ Outcome and Chromosomal Instability

por Ognibene, Marzia, De Marco, Patrizia, Amoroso, Loredana, Fragola, Martina, Zara, Federico, Parodi, Stefano, Pezzolo, Annalisa
Publicado 2023

FZD6 is a novel gene for human neural tube defects

por De Marco, Patrizia, Merello, Elisa, Rossi, Andrea, Piatelli, Gianluca, Cama, Armando, Kibar, Zoha, Capra, Valeria
Publicado 2011

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

por De Marco, Patrizia, Merello, Elisa, Consales, Alessandro, Piatelli, Gianluca, Cama, Armando, Kibar, Zoha, Capra, Valeria
Publicado 2012

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

por Ognibene, Marzia, De Marco, Patrizia, Parodi, Stefano, Meli, Mariaclaudia, Di Cataldo, Andrea, Zara, Federico, Pezzolo, Annalisa
Publicado 2022

Effects of SARS-CoV-2 Infection on Pulmonary Function Tests and Exercise Tolerance

por Ora, Josuel, Zerillo, Bartolomeo, De Marco, Patrizia, Manzetti, Gian Marco, De Guido, Ilaria, Calzetta, Luigino, Rogliani, Paola
Publicado 2022

Cost effective assay choice for rare disease study designs

por Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè
Publicado 2015

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

por Chelleri, Cristina, Scala, Marcello, De Marco, Patrizia, Traverso, Monica, Ognibene, Marzia, Bruno, Irene, Piccolo, Gianluca, Striano, Pasquale, Severino, Mariasavina, Zara, Federico, Diana, Maria Cristina, Pavanello, Marco
Publicado 2023

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

por 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
Publicado 2021

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

por 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
Publicado 2022

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

por 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
Publicado 2021

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

por 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
Publicado 2022

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

por 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
Publicado 2014

Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report

por Piccolo, Gianluca, Verrico, Antonio, Morana, Giovanni, Piatelli, Gianluca, De Marco, Patrizia, Iurilli, Valentina, Antonelli, Manila, Gaggero, Gabriele, Ramaglia, Antonia, Crocco, Marco, Caruggi, Samuele, Milanaccio, Claudia, Garrè, Maria Luisa, Pavanello, Marco
Publicado 2022

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

por 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.
Publicado 2016

Whole exome sequencing identifies novel predisposing genes in neural tube defects

por 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
Publicado 2018

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

por 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
Publicado 2022

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center

por Buratti, Silvia, Mallamaci, Marisa, Tuo, Giulia, Severino, Mariasavina, Tortora, Domenico, Parodi, Costanza, Rossi, Andrea, Pasetti, Francesco, Castellan, Lucio, Capra, Valeria, Romano, Ferruccio, De Marco, Patrizia, Pavanello, Marco, Piatelli, Gianluca, Paladini, Dario, Calevo, Maria Grazia, Moscatelli, Andrea
Publicado 2023