User profiles for Patrizia De Marco

Patrizia De Marco

Istituto Giannina Gaslini-UOC Neurochirurgia
Verified email at gaslini.org
Cited by 3966

[HTML][HTML] Mutations in VANGL1 Associated with Neural-Tube Defects

…, M Mathieu, I Kirillova, P De Marco… - … England Journal of …, 2007 - Mass Medical Soc
<p id="p001">Neural-tube defects such as anencephaly and spina bifida constitute a group
of common congenital malformations caused by complex genetic and environmental factors. …

Single‐step deposition of Au‐and Pt‐nanoparticle‐functionalized tungsten oxide nanoneedles synthesized via aerosol‐assisted CVD, and used for fabrication of …

…, E Llobet, X Correig, P De Marco… - Advanced Functional …, 2013 - Wiley Online Library
Tungsten oxide nanostructures functionalized with gold or platinum NPs are synthesized and
integrated, using a single‐step method via aerosol‐assisted chemical vapour deposition, …

Room temperature responses of visible-light illuminated WO3 sensors to NO2 in sub-ppm range

C Zhang, A Boudiba, P De Marco, R Snyders… - Sensors and Actuators B …, 2013 - Elsevier
In this paper, the effects of visible-light illumination on sensing properties of tungsten trioxide
(WO 3 ) sensors have been investigated. WO 3 sensitive films are prepared on alumina …

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

P De Marco, MG Calevo, A Moroni, L Arata… - Journal of human …, 2002 - nature.com
Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR)
gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. …

Contribution of VANGL2 mutations to isolated neural tube defects

…, S Salem, CM Bosoi, E Pauwels, P De Marco… - Clinical …, 2011 - Wiley Online Library
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros
P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified …

Novel mutations in VANGL1 in neural tube defects

…, M Kooistra, S Salem, RH Finnell, P De Marco… - Human …, 2009 - Wiley Online Library
Neural tube defects (NTDs) are severe congenital malformations caused by failure of the
neural tube to close during neurulation. Their etiology is complex involving both environmental …

Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration

…, M Dusl, X Yuan, L Bartesaghi, P De Marco… - The EMBO …, 2018 - embopress.org
A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a
prominent post‐translational modification of neuronal microtubules. Defective tubulin …

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

R Allache, P De Marco, E Merello… - … Research Part A …, 2012 - Wiley Online Library
BACKGROUND Neural tube defects (NTDs), including anencephaly and spina bifida, have
a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been …

[HTML][HTML] Update on the role of the non-canonical Wnt/planar cell polarity pathway in neural tube defects

M Wang, P de Marco, V Capra, Z Kibar - Cells, 2019 - mdpi.com
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most
severe and common malformations of the central nervous system affecting 0.7–3 per 1000 live …

FZD6 is a novel gene for human neural tube defects

P De Marco, E Merello, A Rossi, G Piatelli… - Human …, 2012 - Wiley Online Library
Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting
1 of 1,000 live births. Mouse models were instrumental in defining the signaling pathways …