Valeria Capra
Valeria Capra
Istituto Giannina Gaslini
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Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome
N Brockdorff, A Ashworth, GF Kay, P Cooper, S Smith, VM McCabe, ...
Nature 351 (6324), 329-331, 1991
Characterization of a murine gene expressed from the inactive X chromosome
G Borsani, R Tonlorenzi, MC Simmler, L Dandolo, D Arnaud, V Capra, ...
Nature 351 (6324), 325-329, 1991
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
S Brunelli, A Faiella, V Capra, V Nigro, A Simeone, A Cama, E Boncinelli
Nature genetics 12 (1), 94-96, 1996
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
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), 319-324, 2002
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor
F Bourdeaut, D Lequin, L Brugières, S Reynaud, C Dufour, F Doz, ...
Clinical Cancer Research 17 (1), 31-38, 2011
Toward understanding the genetic basis of neural tube defects
Z Kibar, V Capra, P Gros
Clinical genetics 71 (4), 295-310, 2007
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
D Szumska, G Pieles, R Essalmani, M Bilski, D Mesnard, K Kaur, ...
Genes & development 22 (11), 1465-1477, 2008
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
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome—a new clinical perspective
ML Garrè, A Cama, F Bagnasco, G Morana, F Giangaspero, M Brisigotti, ...
Clinical Cancer Research 15 (7), 2463-2471, 2009
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), 245-252, 2003
Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation
P Tortori-Donati, MP Fondelli, A Rossi, CA Raybaud, A Cama, V Capra
American journal of neuroradiology 20 (3), 445-456, 1999
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
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
The C677T mutation of the 5, 10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
R De Franchis, A Buoninconti, C Mandato, A Pepe, MP Sperandeo, ...
Journal of medical genetics 35 (12), 1009-1013, 1998
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
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
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
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
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
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