Patrizia De Marco
Patrizia De Marco
Istituto Giannina Gaslini-UOC Neurochirurgia
Verified email at gaslini.org
TitleCited byYear
Mutations in VANGL1 associated with neural-tube defects
Z Kibar, E Torban, JR McDearmid, A Reynolds, J Berghout, M Mathieu, ...
New England Journal of Medicine 356 (14), 1432-1437, 2007
2562007
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
P De Marco, MG Calevo, A Moroni, L Arata, E Merello, RH Finnell, H Zhu, ...
Journal of human genetics 47 (6), 319, 2002
1492002
Novel mutations in VANGL1 in neural tube defects
Z Kibar, CM Bosoi, M Kooistra, S Salem, RH Finnell, P De Marco, ...
Human mutation 30 (7), E706-E715, 2009
1002009
Reduced folate carrier polymorphism (80A→ G) and neural tube defects
P De Marco, MG Calevo, A Moroni, E Merello, A Raso, RH Finnell, H Zhu, ...
European journal of human genetics 11 (3), 245, 2003
1002003
Extreme somatosensory evoked potential (ESEP): an EEG sign forecasting the possible occurrence of seizures in children
PD Marco, CA Tassinari
Epilepsia 22 (5), 569-575, 1981
981981
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity
M Malacarne, E Gennaro, F Madia, S Pozzi, D Vacca, B Barone, ...
The American Journal of Human Genetics 68 (6), 1521-1526, 2001
912001
Video game induced seizures.
CD Ferrie, P De Marco, RA Grünewald, S Giannakodimos, ...
Journal of Neurology, Neurosurgery & Psychiatry 57 (8), 925-931, 1994
911994
Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.
A Magaudda, B Dalla Bernardina, P De Marco, Z Sfaello, M Longo, ...
Journal of Neurology, Neurosurgery & Psychiatry 56 (8), 885-889, 1993
911993
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G> A polymorphism for neural tube defect risk
P De Marco, E Merello, MG Calevo, S Mascelli, A Raso, A Cama, V Capra
Journal of human genetics 51 (2), 98-103, 2006
862006
Contribution of VANGL2 mutations to isolated neural tube defects
Z Kibar, S Salem, CM Bosoi, E Pauwels, P De Marco, E Merello, ...
Clinical genetics 80 (1), 76-82, 2011
812011
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
JH Seo, Y Zilber, S Babayeva, JJ Liu, P Kyriakopoulos, P De Marco, ...
Human molecular genetics 20 (22), 4324-4333, 2011
732011
Polymorphisms in genes involved in folate metabolism as risk factors for NTDs
P De Marco, MG Calevo, A Moroni, L Arata, E Merello, A Cama, ...
European Journal of Pediatric Surgery 11 (S1), S14-S17, 2001
712001
FZD6 is a novel gene for human neural tube defects
P De Marco, E Merello, A Rossi, G Piatelli, A Cama, Z Kibar, V Capra
Human mutation 33 (2), 384-390, 2012
702012
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
R Allache, P De Marco, E Merello, V Capra, Z Kibar
Birth Defects Research Part A: Clinical and Molecular Teratology 94 (3), 176-181, 2012
692012
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects
CM Bosoi, V Capra, R Allache, VQH Trinh, P De Marco, E Merello, ...
Human mutation 32 (12), 1371-1375, 2011
682011
Folate pathway gene alterations in patients with neural tube defects
P De Marco, A Moroni, E Merello, R De Franchis, L Andreussi, RH Finnell, ...
American journal of medical genetics 95 (3), 216-223, 2000
632000
Current perspectives on the genetic causes of neural tube defects
P De Marco, E Merello, S Mascelli, V Capra
neurogenetics 7 (4), 201-221, 2006
602006
Cytogenetic analysis of Epinephelus marginatus (Pisces: Serranidae), with the chromosome localization of the 18S and 5S rRNA genes and of the (TTAGGG) n telomeric sequence
L Sola, S De Innocentiis, E Gornung, S Papalia, AR Rossi, G Marino, ...
Marine Biology 137 (1), 47-51, 2000
562000
Topiramate as add-on drug in children, adolescents and young adults with Lennox-Gastaut syndrome: an Italian multicentric study
G Coppola, G Caliendo, P Veggiotti, A Romeo, G Tortorella, P De Marco, ...
Epilepsy research 51 (1-2), 147-153, 2002
552002
Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study
P De Marco, E Merello, MG Calevo, S Mascelli, D Pastorino, L Crocetti, ...
Child's Nervous System 27 (7), 1073-1081, 2011
512011
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