Search Results - "DE MARCO, Patrizia"
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Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects
Published in Cells (Basel, Switzerland) (04-10-2019)“…Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most severe and common malformations of the central nervous system affecting…”
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2
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
Published in Journal of human genetics (01-02-2006)“…Genetic variants of enzymes involved in the folate pathway might be expected to have an impact on neural tube defect (NTD) risk. Given its key role in folate…”
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3
Single-Step Deposition of Au- and Pt-Nanoparticle-Functionalized Tungsten Oxide Nanoneedles Synthesized Via Aerosol-Assisted CVD, and Used for Fabrication of Selective Gas Microsensor Arrays
Published in Advanced functional materials (13-03-2013)“…Tungsten oxide nanostructures functionalized with gold or platinum NPs are synthesized and integrated, using a single‐step method via aerosol‐assisted chemical…”
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4
Neuroblastoma Patients’ Outcome and Chromosomal Instability
Published in International journal of molecular sciences (01-11-2023)“…Chromosomal instability (CIN) induces a high rate of losses or gains of whole chromosomes or parts of chromosomes. It is a hallmark of most human cancers and…”
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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
Published in International journal of molecular sciences (10-06-2022)“…Neuroblastoma (NB) is a tumor of the developing sympathetic nervous system. Despite recent advances in understanding the complexity of NB, the mechanisms that…”
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Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells
Published in International journal of molecular sciences (01-04-2021)“…Neuroblastoma (NB) is an aggressive infancy tumor, leading cause of death among preschool age diseases. Here we focused on characterization of exosomal DNA…”
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7
In vitro and in vivo characterization of graphene oxide coated porcine bone granules
Published in Carbon (New York) (01-07-2016)“…Graphene oxide (GO) demonstrated to improve the wound healing properties of materials intended for bone replacement. The main objective of this study was the…”
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8
Tuning electronic properties of carbon nanotubes by nitrogen grafting: Chemistry and chemical stability
Published in Carbon (New York) (01-03-2015)“…Plasma-based methods were used to graft nitrogen atoms to the hexagonal lattice of vertically aligned carbon nanotubes (v-CNTs). The nitrogen grafting (as…”
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9
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
Published in Journal of human genetics (01-06-2002)“…Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many…”
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10
Loss-of-function de novo mutations play an important role in severe human neural tube defects
Published in Journal of medical genetics (01-07-2015)“…Neural tube defects (NTDs) are very common and severe birth defects that are caused by failure of neural tube closure and that have a complex aetiology…”
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11
Exercise-Induced Asthma: Managing Respiratory Issues in Athletes
Published in Journal of functional morphology and kinesiology (03-01-2024)“…Asthma is a complex respiratory condition characterized by chronic airway inflammation and variable expiratory airflow limitation, affecting millions globally…”
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12
Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report
Published in BMC pediatrics (29-11-2022)“…To date, this is the only report showing with close and consecutive magnetic resonance images the extremely rapid response of two types of pediatric low-grade…”
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13
Novel mutations in VANGL1 in neural tube defects
Published in Human mutation (01-07-2009)“…Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex…”
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14
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects
Published in Frontiers in neuroscience (14-07-2020)“…Neural tube defects (NTDs) are severe malformations of the central nervous system that affect 1-2 individuals per 2000 births. Their etiology is complex and…”
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15
Use of Optical Contrast To Estimate the Degree of Reduction of Graphene Oxide
Published in Journal of physical chemistry. C (10-01-2013)“…We report an optical contrast study of graphene oxide on 72 nm Al2O3/Si(100) and 300 nm SiO2/Si(100) as a function of its reduction degree. The reduction has…”
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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
Published in Human molecular genetics (01-04-2014)“…Wnt signaling has been classified as canonical Wnt/β-catenin-dependent or non-canonical planar cell polarity (PCP) pathway. Misregulation of either pathway is…”
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17
Characterization of the Monkeypox Virus [MPX]-Specific Immune Response in MPX-Cured Individuals Using Whole Blood to Monitor Memory Response
Published in Vaccines (Basel) (01-09-2024)“…Monkeypox (Mpox) is a zoonotic disease caused by monkeypox virus (MPXV), an Orthopoxvirus (OPXV). Since we are observing the first MPXV outbreak outside the…”
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18
Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations
Published in Birth defects research. A Clinical and molecular teratology (01-01-2015)“…Background Neural Tube Defects (NTD) are a common class of birth defects that occur in approximately 1 in 1000 live births. Both genetic and nongenetic factors…”
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19
Chagas Disease in the Non-Endemic Area of Rome, Italy: Ten Years of Experience and a Brief Overview
Published in Infectious disease reports (24-07-2024)“…Chagas disease (CD) is a parasitic infection endemic in Latin America and also affects patients in Western countries due to migration flows. This has a…”
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Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report
Published in Frontiers in pediatrics (12-01-2024)“…The occurrence of an abdominal tumor invading the spinal canal and causing symptoms of epidural compression is rare in an infant, and exceptional at birth…”
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