1988 …2020

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2016

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

Accogli, A., Pavanello, M., Accorsi, P., De Marco, P., Merello, E., Pacetti, M., Nozza, P., Fiorillo, C., Pinelli, L., Cama, A., Rossi, A., Catala, M. & Capra, V., 2016, (Accepted/In press) In : Birth Defects Research Part A - Clinical and Molecular Teratology.

Research output: Contribution to journalArticle

Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience

Fiaschi, P., Pavanello, M., Imperato, A., Dallolio, V., Accogli, A., Capra, V., Consales, A., Cama, A. & Piatelli, G., Jun 1 2016, In : Journal of Neurosurgery: Pediatrics. 17, 6, p. 705-710 6 p.

Research output: Contribution to journalArticle

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

Mascelli, S., Nozza, P., Jones, D. T. W., Colin, C., Pistorio, A., Milanaccio, C., Ravegnani, M., Consales, A., Witt, O., Morana, G., Cama, A., Capra, V., Biassoni, R., Pfister, S. M., Figarella-Branger, D., Garrè, M. L. & Raso, A., 2016, In : Oncotarget. 7, 30, p. 47918-47926 9 p.

Research output: Contribution to journalArticle

2015

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Accogli, A., Pacetti, M., Fiaschi, P., Pavanello, M., Piatelli, G., Nuzzi, D., Baldi, M., Tassano, E., Severino, M. S., Allegri, A. & Capra, V., Mar 1 2015, In : American Journal of Medical Genetics, Part A. 167, 3, p. 646-652 7 p.

Research output: Contribution to journalArticle

Cost effective assay choice for rare disease study designs

Campbell, D. D., Porsch, R. M., Cherny, S. S., Capra, V., Merello, E., De Marco, P., Sham, P. C. & Garcia-Barceló, M. M., 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 13023.

Research output: Contribution to journalArticle

Erratum to Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. [Human Molecular Genetics, 20, 22, (2011) 4324-4333] DOI: 10.1093/hmg/ddr359

Seo, J. H., Zilber, Y., Babayeva, S., Liu, J., Kyriakopoulos, P., De Marco, P., Merello, E., Capra, V., Gros, P. & Torban, E., Jul 1 2015, In : Human Molecular Genetics. 24, 13, p. 3893 1 p., ddv131.

Research output: Contribution to journalArticle

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

Allache, R., Wang, M., De Marco, P., Merello, E., Capra, V. & Kibar, Z., 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 1, p. 20-26 7 p.

Research output: Contribution to journalArticle

Loss-of-function de novo mutations play an important role in severe human neural tube defects

Lemay, P., Guyot, M. C., Tremblay, É., Dionne-Laporte, A., Spiegelman, D., Henrion, É., Diallo, O., De Marco, P., Merello, E., Massicotte, C., Désilets, V., Michaud, J. L., Rouleau, G. A., Capra, V. & Kibar, Z., 2015, In : Journal of Medical Genetics. 52, 7, p. 493-497 5 p.

Research output: Contribution to journalArticle

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

Wang, M., De Marco, P., Merello, E., Drapeau, P., Capra, V. & Kibar, Z., Dec 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 12, p. 1021-7 7 p.

Research output: Contribution to journalArticle

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

Wang, M., De Marco, P., Merello, E., Drapeau, P., Capra, V. & Kibar, Z., Dec 1 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 12, p. 1021-1027 7 p.

Research output: Contribution to journalArticle

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N. & 30 others, Cordier, M. P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., Didonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J. B., Rivière, J. B., Collet, C., Gigot, N., Faivre, L. & Thauvin-Robinet, C., Mar 1 2015, In : Clinical Genetics. 87, 3, p. 244-251 8 p.

Research output: Contribution to journalArticle

2014

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

Gimelli, S., Capra, V., Di Rocco, M., Leoni, M., Mirabelli-Badenier, M., Schiaffino, M. C., Fiorio, P., Cuoco, C., Gimelli, G. & Tassano, E., Aug 13 2014, In : Molecular Cytogenetics. 7, 1, 54.

Research output: Contribution to journalArticle

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Allache, R., Lachance, S., Guyot, M. C. L., De Marco, P., Merello, E., Justice, M. J., Capra, V. & Kibar, Z., Apr 1 2014, In : Human Molecular Genetics. 23, 7, p. 1687-1699 13 p.

Research output: Contribution to journalArticle

PDCD10 gene mutations in multiple cerebral cavernous malformations

Cigoli, M. S. O., Avemaria, F., De Benedetti, S., Gesu, G. P., Accorsi, L. G. I., Parmigiani, S., Corona, M. F. R., Capra, V., Mosca, A., Giovannini, S., Notturno, F., Ciccocioppo, F., Volpi, L., Estienne, M., De Michele, G., Antenora, A., Bilo, L., Tavoni, A., Zamponi, N., Alfei, E. & 3 others, Baranello, G., Riva, D. & Penco, S., 2014, In : PLoS One. 9, 10, p. e110438

Research output: Contribution to journalArticle

Periventricular nodular heterotopia in Smith-Magenis syndrome

Capra, V., Biancheri, R., Morana, G., Striano, P., Novara, F., Ferrero, G. B., Boeri, L., Celle, M. E., Mancardi, M. M., Zuffardi, O., Parrini, E. & Guerrini, R., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3142-3147 6 p.

Research output: Contribution to journalArticle

Urological outcome in patients with Currarino syndrome

Pio, L., Piatelli, G., Rossi, A., Scarsi, P., Merello, E., Capra, V., Cama, A., Buffa, P. & Torre, M., Nov 1 2014, In : Journal of Pediatric Surgery. 49, 11, p. 1643-1646 4 p.

Research output: Contribution to journalArticle

Urological outcome in patients with Currarino syndrome

Pio, L., Piatelli, G., Rossi, A., Scarsi, P., Merello, E., Capra, V., Cama, A., Buffa, P. & Torre, M., Nov 1 2014, In : Journal of Pediatric Surgery. 49, 11, p. 1643-1646 4 p.

Research output: Contribution to journalArticle

2013

Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

De Marco, P., Merello, E., Consales, A., Piatelli, G., Cama, A., Kibar, Z. & Capra, V., Mar 2013, In : Journal of Molecular Neuroscience. 49, 3, p. 582-588 7 p.

Research output: Contribution to journalArticle

Molecular fingerprinting reflects different histotypes and brain region in low grade gliomas

Mascelli, S., Barla, A., Raso, A., Mosci, S., Nozza, P., Biassoni, R., Morana, G., Huber, M., Mircean, C., Fasulo, D., Noy, K., Wittemberg, G., Pignatelli, S., Piatelli, G., Cama, A., Garré, M. L., Capra, V. & Verri, A., Aug 15 2013, In : BMC Cancer. 13, p. 1-15 15 p., 387.

Research output: Contribution to journalArticle

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases

Merello, E., De Marco, P., Ravegnani, M., Riccipetitoni, G., Cama, A. & Capra, V., Dec 2013, In : European Journal of Medical Genetics. 56, 12, p. 648-654 7 p.

Research output: Contribution to journalArticle

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring

Capra, V., Mascelli, S., Garrè, M. L., Nozza, P., Vaccari, C., Bricco, L., Sloan-Béna, F., Gimelli, S., Cuoco, C., Gimelli, G. & Tassano, E., Mar 6 2013, In : PLoS One. 8, 3, e57910.

Research output: Contribution to journalArticle

2012

Characterization of glioma stem cells through multiple stem cell markers and their specific sensitization to double-strand break-inducing agents by pharmacological inhibition of ataxia telangiectasia mutated protein

Raso, A., Vecchio, D., Cappelli, E., Ropolo, M., Poggi, A., Nozza, P., Biassoni, R., Mascelli, S., Capra, V., Kalfas, F., Severi, P. & Frosina, G., Sep 2012, In : Brain Pathology. 22, 5, p. 677-688 12 p.

Research output: Contribution to journalArticle

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations

Mosca, L., Pileggi, S., Avemaria, F., Tarlarini, C., Cigoli, M. S., Capra, V., De Marco, P., Pavanello, M., Marocchi, A. & Penco, S., Jul 2012, In : Journal of Molecular Neuroscience. 47, 3, p. 475-480 6 p.

Research output: Contribution to journalArticle

FZD6 is a novel gene for human neural tube defects

De Marco, P., Merello, E., Rossi, A., Piatelli, G., Cama, A., Kibar, Z. & Capra, V., Feb 2012, In : Human Mutation. 33, 2, p. 384-390 7 p.

Research output: Contribution to journalArticle

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

Capra, V., Mirabelli-Badenier, M., Stagnaro, M., Rossi, A., Tassano, E., Gimelli, S. & Gimelli, G., Oct 4 2012, In : BMC Medical Genetics. 13, 93.

Research output: Contribution to journalArticle

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?

Bergamino, L., Capra, V., Biancheri, R., Rossi, A., Tacchella, A., Ambrosini, L., Mizuguchi, M., Saitoh, M. & Marazzi, M. G., May 2012, In : Brain and Development. 34, 5, p. 384-391 8 p.

Research output: Contribution to journalArticle

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

Allache, R., De Marco, P., Merello, E., Capra, V. & Kibar, Z., Mar 2012, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 94, 3, p. 176-181 6 p.

Research output: Contribution to journalArticle

2011

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc

De Marco, P., Raso, A., Beri, S., Gimelli, S., Merello, E., Mascelli, S., Baldi, M., Baffico, A. M., Pavanello, M., Cama, A., Capra, V., Giorda, R. & Gimelli, G., Sep 2011, In : European Journal of Medical Genetics. 54, 5

Research output: Contribution to journalArticle

Contribution of VANGL2 mutations to isolated neural tube defects

Kibar, Z., Salem, S., Bosoi, C., Pauwels, E., De Marco, P., Merello, E., Bassuk, A., Capra, V. & Gros, P., Jul 2011, In : Clinical Genetics. 80, 1, p. 76-82 7 p.

Research output: Contribution to journalArticle

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor

Bourdeaut, F., Lequin, D., Brugières, L., Reynaud, S., Dufour, C., Doz, F., André, N., Stephan, J. L., Pérel, Y., Oberlin, O., Orbach, D., Bergeron, C., Rialland, X., Fréneaux, P., Ranchere, D., Figarella-Branger, D., Audry, G., Puget, S., Evans, D. G., Ferreres Pinas, J. C. & 6 others, Capra, V., Mosseri, V., Coupier, I., Gauthier-Villars, M., Pierron, G. & Delattre, O., Jan 1 2011, In : Clinical Cancer Research. 17, 1, p. 31-38 8 p.

Research output: Contribution to journalArticle

High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastoma

Raso, A., Mascelli, S., Biassoni, R., Nozza, P., Kool, M., Pistorio, A., Ugolotti, E., Milanaccio, C., Pignatelli, S., Ferraro, M., Pavanello, M., Ravegnani, M., Cama, A., Garré, M. L. & Capra, V., May 2011, In : Neuro-Oncology. 13, 5, p. 500-508 9 p.

Research output: Contribution to journalArticle

Human neural tube defects: Genetic causes and prevention

de Marco, P., Merello, E., Cama, A., Kibar, Z. & Capra, V., Jul 2011, In : BioFactors. 37, 4, p. 261-268 8 p.

Research output: Contribution to journalArticle

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q. H., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G. & Kibar, Z., Dec 2011, In : Human Mutation. 32, 12, p. 1371-1375 5 p.

Research output: Contribution to journalArticle

Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma

Pezzolo, A., Coco, S., Raso, A., Parodi, F., Pistorio, A., Valdora, F., Capra, V., Zollo, M., Aschero, S., Basso, E., Cama, A., Nozza, P., Gambini, C., Cinalli, G., Garrè, M. L., Iolascon, A., Pistoia, V. & Tonini, G. P., Sep 28 2011, In : Cancer Letters. 308, 2, p. 215-224 10 p.

Research output: Contribution to journalArticle

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: An Italian case-control study

De Marco, P., Merello, E., Calevo, M. G., Mascelli, S., Pastorino, D., Crocetti, L., De Biasio, P., Piatelli, G., Cama, A. & Capra, V., Jul 2011, In : Child's Nervous System. 27, 7, p. 1073-1081 9 p.

Research output: Contribution to journalArticle

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation

D'Angelo, R., Marini, V., Rinaldi, C., Origone, P., Dorcaratto, A., Avolio, M., Goitre, L., Forni, M., Capra, V., Alafaci, C., Mareni, C., Garrè, C., Bramanti, P., Sidoti, A., Retta, S. F. & Amato, A., Mar 2011, In : Brain Pathology. 21, 2, p. 215-224 10 p.

Research output: Contribution to journalArticle

Mutations in the planar cell polarity gene, fuzzy, are associated with neural tube defects in humans

Seo, J. H., Zilber, Y., Babayeva, S., Liu, J., Kyriakopoulos, P., de marco, P., Merello, E., Capra, V., Gros, P. & Torban, E., Nov 2011, In : Human Molecular Genetics. 20, 22, p. 4324-4333 10 p., ddr359.

Research output: Contribution to journalArticle

Troubleshooting fine-tuning procedures for qPCR system design

Raso, A., Mascelli, S., Nozza, P., Ugolotti, E., Vanni, I., Capra, V. & Biassoni, R., Nov 2011, In : Journal of Clinical Laboratory Analysis. 25, 6, p. 389-394 6 p.

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