1988 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
Article

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., 2019, In : European Journal of Paediatric Neurology. 23, 4, p. 657-661 5 p.

Research output: Contribution to journalArticle

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

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

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, (10), p. 2965-78

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142 , (10), p. 2965-78 14 p.

Research output: Contribution to journalArticle

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

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 novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions

Scala, M., Accogli, A., De Grandis, E., Allegri, A., Bagowski, C. P., Shoukier, M., Maghnie, M. & Capra, V., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 663-667 5 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

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

Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo, C., Moro, F., Brisca, G., Accogli, A., Trucco, F., Trovato, R., Pedemonte, M., Severino, M., Catala, M., Capra, V., Santorelli, F. M., Bruno, C., Rossi, A. & Minetti, C., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e19-e21

Research output: Contribution to journalArticle

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

Shaheen, R., Mark, P., Prevost, C. T., AlKindi, A., Alhag, A., Estwani, F., Al-Sheddi, T., Alobeid, E., Alenazi, M. M., Ewida, N., Ibrahim, N., Hashem, M., Abdulwahab, F., Bryant, E. M., Spinelli, E., Millichap, J., Barnett, S. S., Kearney, H. M., Accogli, A., Scala, M. & 4 others, Capra, V., Nigro, V., Fu, D. & Alkuraya, F. S., Nov 2019, In : Human Mutation. 40, 11, p. 2108-2120 13 p.

Research output: Contribution to journalArticle

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

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

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

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

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

Chiari malformation type I: what information from the genetics?

Capra, V., Iacomino, M., Accogli, A., Pavanello, M., Zara, F., Cama, A. & De Marco, P., Oct 2019, In : Child's Nervous System. 35, 10, p. 1665-1671 7 p.

Research output: Contribution to journalArticle

Clinical Manifestations and Metabolic Outcomes of Seven Adults with Silver-Russell Syndrome

Patti, G., Giaccardi, M., Capra, V., Napoli, F., Cangemi, G., Notarnicola, S., Guzzetti, S., Russo, S., Maghnie, M. & Di Iorgi, N., Jun 1 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 6, p. 2225-2233 9 p.

Research output: Contribution to journalArticle

Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome

Patti, G., Giaccardi, M., Capra, V., Napoli, F., Cangemi, G., Notarnicola, S., Guzzetti, S., Russo, S., Maghnie, M. & Di Iorgi, N., Jun 1 2018, In : The Journal of clinical endocrinology and metabolism. 103, 6, p. 2225-2233 9 p.

Research output: Contribution to journalArticle

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

Accogli, A., Scala, M., Calcagno, A., Napoli, F., Di Iorgi, N., Arrigo, S., Mancardi, M. M., Prato, G., Pisciotta, L., Nagel, M., Severino, M. & Capra, V., Mar 2019, In : European Journal of Medical Genetics. 62, 3, p. 198-203 6 p.

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

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

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

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

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

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

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

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

Uccella, S., Accogli, A., Tortora, D., Mancardi, M. M., Nobili, L., Berloco, B., Morana, G., Striano, P., Capra, V., Srour, M., Saint-Martine, C., Rossi, A. & Severino, M., May 2019, In : Journal of Neurology. 266, 5, p. 1167-1181 15 p.

Research output: Contribution to journalArticle

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22

Tassano, E., Ronchetto, P., Calcagno, A., Fiorio, P., Gimelli, G., Capra, V. & Scala, M., Jun 2019, In : Journal of Genetics. 98, 2

Research output: Contribution to journalArticle

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma

Mascelli, S., Nozza, P., Sak, K., Joost, K., Cama, A., Capra, V., Garrè, M. L. & Raso, A., Jan 1 2016, In : Pediatric Blood and Cancer. 63, 1, p. 179 1 p.

Research output: Contribution to journalArticle

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Pisciotta, L., Capra, V., Accogli, A., Giacomini, T., Prato, G., Tavares, P., Pinto-Basto, J., Morana, G. & Mancardi, M. M., Jun 1 2018, In : Neuropediatrics. 49, 3, p. 217-221 5 p.

Research output: Contribution to journalArticle

Erratum to: Genetic Screening of Pediatric Cavernous Malformations

Merello, E., Pavanello, M., Consales, A., Mascelli, S., Raso, A., Accogli, A., Cama, A., Capra, V. & de Marco, P., Nov 3 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1 1 p.

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

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

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

Merello, E., Tattini, L., Magi, A., Accogli, A., Piatelli, G., Pavanello, M., Tortora, D., Cama, A., Kibar, Z., Capra, V. & De Marco, P., Aug 2017, In : European Journal of Human Genetics. 25, 8, p. 952-959 8 p.

Research output: Contribution to journalArticle