1988 …2019

Research output per year

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Research Output

1988

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

Ravazzolo, R., Garré, C., Bianchi-Scarrá, G., Barresi, R., Damiani, G., Capra, V. & Ajmar, F., Nov 15 1988, In : Archives of Biochemistry and Biophysics. 267, 1, p. 245-251 7 p.

Research output: Contribution to journalArticle

1990

Synthesis of a 60 kD nuclear DNA binding protein induced by cytosine arabinoside in the HL 60 leukemic cell line

Ravazzolo, R., Bianchi-Scarra, G., Capra, V., Fiorentini, P. & Garre, C., 1990, In : European Journal of Haematology. 44, 3, p. 150-153 4 p.

Research output: Contribution to journalArticle

1991

Characterization of a murine gene expressed from the inactive X chromosome

Borsani, G., Tonlorenzi, R., Simmler, M. C., Dandolo, L., Arnaud, D., Capra, V., Grompe, M., Pizzuti, A., Muzny, D., Lawrence, C., Willard, H. F., Avner, P. & Ballabio, A., May 23 1991, In : Nature. 351, 6324, p. 325-329 5 p.

Research output: Contribution to journalArticle

1992

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

Palmieri, G., Capra, V., Romano, G., D'Urso, M., Johnson, S., Schlessinger, D., Morris, P., Hopwood, J., Di Natale, P., Gatti, R. & Ballabio, A., 1992, In : Genomics. 12, 1, p. 52-57 6 p.

Research output: Contribution to journalArticle

1995

Cytogenetics of the tissue involved in neural tube defects

Haupt, R., Byrne, J., Defferrari, R., Cama, A., Levato, L., Lavia, N., Vigliarolo, M. A., Capra, V. & Andreussi, L., 1995, In : Genetic Counseling. 6, 1, p. 49-53 5 p.

Research output: Contribution to journalArticle

1996

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly

Brunelli, S., Faiella, A., Capra, V., Nigro, V., Simeone, A., Cama, A. & Boncinelli, E., 1996, In : Nature Genetics. 12, 1, p. 94-96 3 p.

Research output: Contribution to journalArticle

Multidisciplinary management of caudal regression syndrome (26 cases)

Cama, A., Palmieri, A., Capra, V., Piatelli, G. L., Ravegnani, M. & Fondelli, P., 1996, In : European Journal of Pediatric Surgery, Supplement. 6, 1, p. 44-45 2 p.

Research output: Contribution to journalArticle

Schizencephaly: Surgical features and new molecular genetic results

Capra, V., De Marco, P., Moroni, A., Faiella, A., Brunelli, S., Tortori-Donati, P., Andreussi, I., Boncinelli, E. & Cama, A., 1996, In : European Journal of Pediatric Surgery, Supplement. 6, 1, p. 27-29 3 p.

Research output: Contribution to journalArticle

1997

Segmental vertebral malformations with rare forms of neural tube defects

Capra, V., Palmicri, A., Dt Marco, P., Moroni, A., Piatelli, G. L., Btnir, J., Fonäelli, M. P., Tortori-Donati, P., Aiidmissi, L. & Camal, A., 1997, In : European Journal of Pediatric Surgery, Supplement. 7, 1, p. 43 1 p.

Research output: Contribution to journalArticle

1998

A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online.

Faiella, A., Zortea, M., Barbaria, E., Albani, F., Capra, V., Cama, A. & Boncinelli, E., 1998, In : Human Mutation. 12, 5, p. 363 1 p.

Research output: Contribution to journalArticle

The C677T mutation of the 5,1O-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy

De Franchis, R., Buoninconti, A., Mandato, C., Pepe, A., Sperandeo, M. P., Del Gado, R., Capra, V., Salvaggio, E., Andria, G. & Mastroiacovo, P., 1998, In : Journal of Medical Genetics. 35, 12, p. 1009-1013 5 p.

Research output: Contribution to journalArticle

1999

New insights on folic add and neural tube defects: froe gene conversion events as increased risk

Capra, V., De Marco, P., Moroni, A., De Franchis, R., Andria, G. & Cama, A., 1999, In : European Journal of Pediatric Surgery, Supplement. 9, 1, p. 14 1 p.

Research output: Contribution to journalArticle

Segmental spinal dysgenesis: Neuroradiologic findings with clinical and embryologic correlation

Tortori-Donati, P., Fondelli, M. P., Rossi, A., Raybaud, C. A., Cama, A. & Capra, V., Mar 1999, In : American Journal of Neuroradiology. 20, 3, p. 445-456 12 p.

Research output: Contribution to journalArticle

2000

Folate pathway gene alterations in patients with neural tube defects

De Marco, P., Moroni, A., Merello, E., De Franchis, R., Andreussi, L., Finnell, R. H., Barber, R. C., Cama, A. & Capra, V., Nov 27 2000, In : American Journal of Medical Genetics. 95, 3, p. 216-223 8 p.

Research output: Contribution to journalArticle

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene

Priolo, M., Lerone, M., Baffico, M., Baldi, M., Ravazzolo, R., Cama, A., Capra, V. & Silengo, M., 2000, In : Clinical Genetics. 58, 1, p. 81-83 3 p.

Research output: Contribution to journalArticle

2001

Analisi di single nucleotide polymorphisms (SNPs) del metabolismo del folato nei difetti del tubo neurale

Translated title of the contribution: Folate pathway single nucleotide polymorphisms (SNPs) and neural tube defectsDe Marco, P., Moroni, A., Merello, E., Arata, L., Calevo, M. G., Cama, A. & Capra, V., 2001, In : Gaslini. 33, 1, p. 14-20 7 p.

Research output: Contribution to journalArticle

A screen for mutations in human homologues of mice exencephaly genes Tfap2α and Msx2 in patients with neural tube defects

Stegmann, K., Boecker, J., Richter, B., Capra, V., Finnell, R. H., Ngo, E. T. K. N., Strehl, E., Ermert, A. & Koch, M. C., 2001, In : Teratology. 63, 5, p. 167-175 9 p.

Research output: Contribution to journalArticle

Fontaine-Farriaux craniosynostosis: Second report in the literature

Priolo, M., De Toni, T., Baffico, M., Cama, A., Seri, M., Cusano, R., Costabello, L., Fondelli, P., Capra, V., Silengo, M., Ravazzolo, R. & Lerone, M., May 1 2001, In : American Journal of Medical Genetics. 100, 3, p. 214-218 5 p.

Research output: Contribution to journalArticle

Polymorphisms in genes involved in folate metabolism as risk factors for NTDs

De Marco, P., Calevo, M. G., Moroni, A., Arata, L., Merello, E., Cama, A., Finnell, R. H., Andreussi, L. & Capra, V., 2001, In : European Journal of Pediatric Surgery, Supplement. 11, 1

Research output: Contribution to journalArticle

2002

Spina bifida and folate-related genes: A study of gene-gene interactions

De Franchis, R., Botto, L. D., Sebastio, G., Ricci, R., Iolascon, A., Capra, V., Andria, G. & Mastroiacovo, P., May 2002, In : Genetics in Medicine. 4, 3, p. 126-130 5 p.

Research output: Contribution to journalArticle

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

De Marco, P., Calevo, M. G., Moroni, A., Arata, L., Merello, E., Finnell, R. H., Zhu, H., Andreussi, L., Cama, A. & Capra, V., 2002, In : Journal of Human Genetics. 47, 6, p. 319-324 6 p.

Research output: Contribution to journalArticle

2003

Reduced folate carrier polymorphism (80A→G) and neural tube defects

De Marco, P., Calevo, M. G., Moroni, A., Merello, E., Raso, A., Finnell, R. H., Zhu, H., Andreussi, L., Cama, A. & Capra, V., Mar 1 2003, In : European Journal of Human Genetics. 11, 3, p. 245-252 8 p.

Research output: Contribution to journalArticle

2004
2005

Rhabdoid meningioma of the tentorium with expression of desmin in a 12-year-old Turner syndrome patient [4]

Nozza, P., Raso, A., Rossi, A., Milanaccio, C., Pezzolo, A., Capra, V., Gambini, C. & Pietsch, T., Aug 2005, In : Acta Neuropathologica. 110, 2, p. 205-206 2 p.

Research output: Contribution to journalArticle

2006

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

Bachetti, T., Robbiano, A., Parodi, S., Matera, I., Merello, E., Capra, V., Baglietto, M. P., Rossi, A., Ceccherini, I. & Ottonello, G., 2006, In : American Journal of Respiratory and Critical Care Medicine. 174, 6, p. 706-709 4 p.

Research output: Contribution to journalArticle

Current perspectives on the genetic causes of neural tube defects

De Marco, P., Merello, E., Mascelli, S. & Capra, V., Nov 2006, In : Neurogenetics. 7, 4, p. 201-221 21 p.

Research output: Contribution to journalArticle

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

De Marco, P., Merello, E., Calevo, M. G., Mascelli, S., Raso, A., Cama, A. & Capra, V., Feb 2006, In : Journal of Human Genetics. 51, 2, p. 98-103 6 p.

Research output: Contribution to journalArticle

HLXB9 homeobox gene and caudal regression syndrome

Merello, E., De Marco, P., Mascelli, S., Raso, A., Calevo, M. G., Torre, M., Cama, A., Lerone, M., Martucciello, G. & Capra, V., Mar 2006, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 76, 3, p. 205-209 5 p.

Research output: Contribution to journalArticle

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

Nappi, C., Di Spiezio Sardo, A., Mandato, V. D., Bifulco, G., Merello, E., Savanelli, A., Mignogna, C., Capra, V. & Guida, M., May 10 2006, In : BMC Cancer. 6, 127.

Research output: Contribution to journalArticle

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome

De Marco, P., Merello, E., Mascelli, S., Raso, A., Santamaria, A., Ottaviano, C., Calevo, M. G., Cama, A. & Capra, V., Feb 2006, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 76, 2, p. 86-95 10 p.

Research output: Contribution to journalArticle

2007

Genetic abnormalities and CNS tumors: Report of two cases of ependymoma associated with Klinefelter's Syndrome (KS)

Garrè, M. L., Capra, V., Di Battista, E., Giampietri, L., Nozza, P., Raso, A., Pezzolo, A., Rossi, A., Milanaccio, C., Pavanello, M. & Naselli, A., Feb 2007, In : Child's Nervous System. 23, 2, p. 219-223 5 p.

Research output: Contribution to journalArticle

Mutations in VANGL1 associated with neural-tube defects

Kibar, Z., Torban, E., McDearmid, J. R., Reynolds, A., Berghout, J., Mathieu, M., Kirillova, I., De Marco, P., Merello, E., Hayes, J. M., Wallingford, J. B., Drapeau, P., Capra, V. & Gros, P., Apr 5 2007, In : New England Journal of Medicine. 356, 14, p. 1432-1437 6 p.

Research output: Contribution to journalArticle

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation [1]

Bottani, A., Chelly, J., De Brouwer, A. P. M., Pardo, B., Barker, M., Capra, V., Bartoloni, L., Antonarakis, S. E. & Conrad, B., Apr 15 2007, In : American Journal of Medical Genetics, Part A. 143, 8, p. 888-890 3 p.

Research output: Contribution to journalArticle

Toward understanding the genetic basis of neural tube defects

Kibar, Z., Capra, V. & Gros, P., Apr 2007, In : Clinical Genetics. 71, 4, p. 295-310 16 p.

Research output: Contribution to journalArticle

2008

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with aicardi-goutières syndrome

Izzotti, A., Fazzi, E., Orcesi, S., Cartiglia, C., Longobardi, M., Capra, V., Lebon, P., Cama, A., Pulliero, A., La Piana, R. & Lanzi, G., Aug 19 2008, In : Neurology. 71, 8, p. 610-612 3 p.

Research output: Contribution to journalArticle

Identification of novel chromosomal abnormalities and prognostic cytogenetics markers in intracranial pediatric ependymoma

Pezzolo, A., Capra, V., Raso, A., Morandi, F., Parodi, F., Gambini, C., Nozza, P., Giangaspero, F., Cama, A., Pistoia, V. & Garrè, M. L., Mar 18 2008, In : Cancer Letters. 261, 2, p. 235-243 9 p.

Research output: Contribution to journalArticle

No major role for the EMX2 gene in schizencephaly

Merello, E., Swanson, E., De Marco, P., Akhter, M., Striano, P., Rossi, A., Cama, A., Leventer, R. J., Guerrini, R., Capra, V. & Dobyns, W. B., May 1 2008, In : American Journal of Medical Genetics, Part A. 146, 9, p. 1142-1150 9 p.

Research output: Contribution to journalArticle

Successful isolation and long-term establishment of a cell line with stem cell-like features from an anaplastic medulloblastoma

Raso, A., Negri, F., Gregorio, A., Nozza, P., Mascelli, S., De Marco, P., Merello, E., Milanaccio, C., Ravegnani, M., Cama, A., Garrè, M. L. & Capra, V., Jun 2008, In : Neuropathology and Applied Neurobiology. 34, 3, p. 306-315 10 p.

Research output: Contribution to journalArticle

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

Szumska, D., Pieles, G., Essalmani, R., Bilski, M., Mesnard, D., Kaur, K., Franklyn, A., El Omari, K., Jefferis, J., Bentham, J., Taylor, J. M., Schneider, J. E., Arnold, S. J., Johnson, P., Tymowska-Lalanne, Z., Stammers, D., Clarke, K., Neubauer, S., Morris, A., Brown, S. D. & 8 others, Shaw-Smith, C., Cama, A., Capra, V., Ragoussis, J., Constam, D., Seidah, N. G., Prat, A. & Bhattacharya, S., Jun 1 2008, In : Genes and Development. 22, 11, p. 1465-1477 13 p.

Research output: Contribution to journalArticle

2009

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

Capra, V., De Marco, P., Merello, E., Baffico, A. M., Baldi, M., Divizia, M. T., Gimelli, S., Mallet, D., Raso, A., Mascelli, S., Tomà, P., Rossi, A., Pavanello, M., Cama, A. & Magnani, C., Jan 2009, In : European Journal of Medical Genetics. 52, 1, p. 17-22 6 p.

Research output: Contribution to journalArticle

Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome family

Capra, V., Consales, A., Nozza, P., Monti, P., Inga, A. & Fronza, G., Feb 2009, In : Pediatric Blood and Cancer. 52, 2, p. 303-304 2 p.

Research output: Contribution to journalArticle

Interferon-related transcriptome alterations in the cerebrospinal fluid cells of aicardi-goutières patients

Izzotti, A., Pulliero, A., Orcesi, S., Cartiglia, C., Longobardi, M. G., Capra, V., Lebon, P., Cama, A., La Piana, R., Lanzi, G. & Fazzi, E., Oct 2009, In : Brain Pathology. 19, 4, p. 650-660 11 p.

Research output: Contribution to journalArticle

Medulloblastoma variants: Age-dependent occurrence and relation to gorlin syndrome-a new clinical perspective

Garrè, M. L., Cama, A., Bagnasco, F., Morana, G., Giangaspero, F., Brisigotti, M., Gambini, C., Forni, M., Rossi, A., Haupt, R., Nozza, P., Barra, S., Piatelli, G., Viglizzo, G. M., Capra, V., Bruno, W., Pastorino, L., Massimino, M., Tumolo, M., Fidani, P. & 4 others, Dallorso, S., Schumacher, R. F., Milanaccio, C. & Pietsch, T., Apr 1 2009, In : Clinical Cancer Research. 15, 7, p. 2463-2471 9 p.

Research output: Contribution to journalArticle

Novel mutations in VANGL1 in neural tube defects

Kibar, Z., Bosoi, C. M., Kooistra, M., Salem, S., Finnell, R. H., De Marco, P., Merello, E., Bassuk, A. G., Capra, V. & Gros, P., Jul 2009, In : Human Mutation. 30, 7

Research output: Contribution to journalArticle

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

Makrythanasis, P., Kapranov, P., Bartoloni, L., Reymond, A., Deutsch, S., Guigó, R., Denoeud, F., Drenkow, J., Rossier, C., Ariani, F., Capra, V., Excoffier, L., Renieri, A., Gingeras, T. R. & Antonarakis, S. E., Sep 2009, In : Human Mutation. 30, 9

Research output: Contribution to journalArticle

2010

Detection of transplacental melanoma metastasis using quantitative PCR

Raso, A., Mascelli, S., Nozza, P., Biassoni, R., Negri, F., Garaventa, A., Tarantino, V., Garrè, M. L., Cama, A. & Capra, V., Jun 2010, In : Diagnostic Molecular Pathology. 19, 2, p. 78-82 5 p.

Research output: Contribution to journalArticle

Treatment and outcome of children with cerebral cavernomas: A survey on 32 patients

Consales, A., Piatelli, G., Ravegnani, M., Pavanello, M., Striano, P., Zoli, M. L., Capra, V., Rossi, A., Garrè, M. L., Calevo, M. G. & Cama, A., Apr 2010, In : Neurological Sciences. 31, 2, p. 117-123 7 p.

Research output: Contribution to journalArticle

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish

Reynolds, A., McDearmid, J. R., Lachance, S., Marco, P. D., Merello, E., Capra, V., Gros, P., Drapeau, P. & Kibar, Z., Jul 2010, In : Mechanisms of Development. 127, 7-8, p. 385-392 8 p.

Research output: Contribution to journalArticle