Works matching AU Capra, Valeria

Results: 93
    1

    Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.

    Published in:
    Journal of Neuro-Oncology, 2012, v. 109, n. 3, p. 477, doi. 10.1007/s11060-012-0925-1
    By:
    • Mascelli, Samantha;
    • Raso, Alessandro;
    • Biassoni, Roberto;
    • Severino, Mariasavina;
    • Sak, Katrin;
    • Joost, Kairit;
    • Milanaccio, Claudia;
    • Barra, Salvina;
    • Grillo-Ruggieri, Filippo;
    • Vanni, Irene;
    • Consales, Alessandro;
    • Cama, Armando;
    • Capra, Valeria;
    • Nozza, Paolo;
    • Garrè, Maria
    Publication type:
    Article
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    Spinal involvement in pediatric familial cavernous malformation syndrome.

    Published in:
    Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
    By:
    • Geraldo, Ana Filipa;
    • Luis, Aysha;
    • Alves, Cesar Augusto P. F.;
    • Tortora, Domenico;
    • Guimarães, Joana;
    • Reimão, Sofia;
    • Pavanello, Marco;
    • de Marco, Patrizia;
    • Scala, Marcello;
    • Capra, Valeria;
    • Rossi, Andrea;
    • Schwartz, Erin Simon;
    • Mankad, Kshitij;
    • Severino, Mariasavina
    Publication type:
    Article
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    Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
    By:
    • Chelleri, Cristina;
    • Brolatti, Noemi;
    • De Marco, Patrizia;
    • Ognibene, Marzia;
    • Diana, Maria Cristina;
    • Madia, Francesca;
    • Duca, Marco Di;
    • Santangelo, Andrea;
    • Capra, Valeria;
    • Striano, Pasquale;
    • Zara, Federico;
    • Scala, Marcello
    Publication type:
    Article
    8

    Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
    By:
    • Romano, Ferruccio;
    • Haanpää, Maria K.;
    • Pomianowski, Pawel;
    • Peraino, Amanda Rose;
    • Pollard, John R.;
    • Di Feo, Maria Francesca;
    • Traverso, Monica;
    • Severino, Mariasavina;
    • Derchi, Maria;
    • Henzen, Edoardo;
    • Zara, Federico;
    • Faravelli, Francesca;
    • Capra, Valeria;
    • Scala, Marcello
    Publication type:
    Article
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    Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.

    Published in:
    Biomedicines, 2021, v. 9, n. 1, p. 75, doi. 10.3390/biomedicines9010075
    By:
    • Imbrici, Paola;
    • Accogli, Andrea;
    • Blunck, Rikard;
    • Altamura, Concetta;
    • Iacomino, Michele;
    • D'Adamo, Maria Cristina;
    • Allegri, Anna;
    • Pedemonte, Marina;
    • Brolatti, Noemi;
    • Vari, Stella;
    • Cataldi, Matteo;
    • Capra, Valeria;
    • Gustincich, Stefano;
    • Zara, Federico;
    • Desaphy, Jean-Francois;
    • Fiorillo, Chiara
    Publication type:
    Article
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    Reduced folate carrier polymorphism (80A?G) and neural tube defects.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200946
    By:
    • De Marco, Patrizia;
    • Calevo, Maria Grazia;
    • Moroni, Anna;
    • Merello, Elisa;
    • Raso, Alessandro;
    • Finnell, Richard H.;
    • Zhu, Huiping;
    • Andreussi, Luciano;
    • Cama, Armando;
    • Capra, Valeria
    Publication type:
    Article
    20

    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.

    Published in:
    Brain Pathology, 2012, v. 22, n. 5, p. 677, doi. 10.1111/j.1750-3639.2012.00566.x
    By:
    • Raso, Alessandro;
    • Vecchio, Donatella;
    • Cappelli, Enrico;
    • Ropolo, Monica;
    • Poggi, Alessandro;
    • Nozza, Paolo;
    • Biassoni, Roberto;
    • Mascelli, Samantha;
    • Capra, Valeria;
    • Kalfas, Fotios;
    • Severi, Paolo;
    • Frosina, Guido
    Publication type:
    Article
    21

    Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation.

    Published in:
    Brain Pathology, 2011, v. 21, n. 2, p. 215, doi. 10.1111/j.1750-3639.2010.00441.x
    By:
    • D'Angelo, Rosalia;
    • Marini, Valeria;
    • Rinaldi, Carmela;
    • Origone, Paola;
    • Dorcaratto, Alessandra;
    • Avolio, Maria;
    • Goitre, Luca;
    • Forni, Marco;
    • Capra, Valeria;
    • Alafaci, Concetta;
    • Mareni, Cristina;
    • Garrè, Cecilia;
    • Bramanti, Placido;
    • Sidoti, Antonina;
    • Retta, Saverio Francesco;
    • Amato, Aldo
    Publication type:
    Article
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    Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

    Published in:
    Genes, 2022, v. 13, n. 2, p. 276, doi. 10.3390/genes13020276
    By:
    • Orsini, Alessandro;
    • Santangelo, Andrea;
    • Bravin, Francesca;
    • Bonuccelli, Alice;
    • Peroni, Diego;
    • Battini, Roberta;
    • Foiadelli, Thomas;
    • Bertini, Veronica;
    • Valetto, Angelo;
    • Iacomino, Michele;
    • Nigro, Vincenzo;
    • Torella, Anna Laura;
    • Scala, Marcello;
    • Capra, Valeria;
    • Vari, Maria Stella;
    • Fetta, Anna;
    • Di Pisa, Veronica;
    • Montanari, Francesca;
    • Epifanio, Roberta;
    • Bonanni, Paolo
    Publication type:
    Article
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    A Novel Xp22.13 Microdeletion in Nance-Horan Syndrome.

    Published in:
    Birth Defects Research, 2017, v. 109, n. 11, p. 866, doi. 10.1002/bdr2.1032
    By:
    • Accogli, Andrea;
    • Traverso, Monica;
    • Madia, Francesca;
    • Bellini, Tommaso;
    • Vari, Maria Stella;
    • Pinto, Francesca;
    • Capra, Valeria
    Publication type:
    Article
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    Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

    Published in:
    Frontiers in Oncology, 2020, v. 11, p. 1, doi. 10.3389/fonc.2020.00795
    By:
    • Garibotto, Federica;
    • Madia, Francesca;
    • Milanaccio, Claudia;
    • Verrico, Antonio;
    • Piccardo, Arnoldo;
    • Tortora, Domenico;
    • Piatelli, Gianluca;
    • Diana, Maria Cristina;
    • Capra, Valeria;
    • Garrè, Maria Luisa;
    • Rossi, Andrea;
    • Morana, Giovanni
    Publication type:
    Article
    38

    Cost effective assay choice for rare disease study designs.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0226-9
    By:
    • Campbell, Desmond D.;
    • Porsch, Robert M.;
    • Cherny, Stacey S.;
    • Capra, Valeria;
    • Merello, Elisa;
    • De Marco, Patrizia;
    • Sham, Pak C.;
    • Garcia-Barceló, Maria-Mercè
    Publication type:
    Article
    39

    International Consensus Statement on the Radiologic Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.

    Published in:
    American Journal of Neuroradiology, 2024, v. 45, n. 6, p. 673, doi. 10.3174/ajnr.A8117
    By:
    • Balani, Ankit;
    • Sidpra, Jai;
    • Sudhakar, Sniya;
    • Biswas, Asthik;
    • Öztekin, Özgür;
    • Capra, Valeria;
    • Catala, Martin;
    • Copp, Andrew J.;
    • Kumar, Neetu;
    • Johal, Navroop;
    • Tahir, M. Zubair;
    • Thompson, Dominic;
    • Dachling Pang;
    • Mirsky, David M.;
    • Mai-Lan Ho;
    • Huisman, Thierry A. G. M.;
    • Rossi, Andrea;
    • Mankad, Kshitij
    Publication type:
    Article
    40

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

    Published in:
    Human Mutation, 2009, v. 30, n. 9, p. E866, doi. 10.1002/humu.21073
    By:
    • Makrythanasis, Periklis;
    • Kapranov, Philipp;
    • Bartoloni, Lucia;
    • Reymond, Alexandre;
    • Deutsch, Samuel;
    • Guigó, Roderic;
    • Denoeud, France;
    • Drenkow, Jorg;
    • Rossier, Colette;
    • Ariani, Francesca;
    • Capra, Valeria;
    • Excoffier, Laurent;
    • Renieri, Alessandra;
    • Gingeras, Thomas R;
    • Antonarakis, Stylianos E
    Publication type:
    Article
    41

    Novel mutations in VANGL1 in neural tube defects.

    Published in:
    Human Mutation, 2009, v. 30, n. 7, p. E706, doi. 10.1002/humu.21026
    By:
    • Kibar, Zoha;
    • Bosoi, Ciprian M.;
    • Kooistra, Megan;
    • Salem, Sandra;
    • Finnell, Richard H.;
    • De Marco, Patrizia;
    • Merello, Elisa;
    • Bassuk, Alexander G.;
    • Capra, Valeria;
    • Gros, Philippe
    Publication type:
    Article
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    Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

    Published in:
    Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
    By:
    • Ognibene, Marzia;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Schiavetti, Irene;
    • Madia, Francesca;
    • Traverso, Monica;
    • Guerrisi, Sara;
    • Di Duca, Marco;
    • Caroli, Francesco;
    • Baldassari, Simona;
    • Tappino, Barbara;
    • Romano, Ferruccio;
    • Uva, Paolo;
    • Vozzi, Diego;
    • Chelleri, Cristina;
    • Piatelli, Gianluca;
    • Diana, Maria Cristina;
    • Zara, Federico;
    • Capra, Valeria;
    • Pavanello, Marco
    Publication type:
    Article
    46

    Congenital Nasal Bones Agenesis: Report of a Rare Malformation.

    Published in:
    Case Reports in Medicine, 2024, v. 2024, p. 1, doi. 10.1155/carm/1849957
    By:
    • Russo, Monica;
    • Ferrecchi, Chiara;
    • Rebella, Silvia;
    • Capra, Valeria;
    • Ameli, Franco;
    • Pacetti, Mattia;
    • Di Feo, Maria Francesca;
    • De Biasio, Pierangela;
    • Arioni, Cesare;
    • Borlingegowda, Viswanatha
    Publication type:
    Article
    47

    Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
    By:
    • Kolvenbach, Caroline M.;
    • van der Ven, Amelie T.;
    • Kause, Franziska;
    • Shril, Shirlee;
    • Scala, Marcello;
    • Connaughton, Dervla M.;
    • Mann, Nina;
    • Nakayama, Makiko;
    • Dai, Rufeng;
    • Kitzler, Thomas M.;
    • Schneider, Ronen;
    • Schierbaum, Luca;
    • Schneider, Sophia;
    • Accogli, Andrea;
    • Torella, Annalaura;
    • Piatelli, Gianluca;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Hoppe, Bernd;
    • Märzheuser, Stefanie
    Publication type:
    Article
    48

    ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
    By:
    • Kushary, Sulagna Tina;
    • Revah‐Politi, Anya;
    • Barua, Subit;
    • Ganapathi, Mythily;
    • Accogli, Andrea;
    • Aggarwal, Vimla;
    • Brunetti‐Pierri, Nicola;
    • Cappuccio, Gerarda;
    • Capra, Valeria;
    • Fagerberg, Christina R.;
    • Gazdagh, Gabriella;
    • Guzman, Edwin;
    • Hadonou, Medard;
    • Harrison, Victoria;
    • Havelund, Kathrine;
    • Iancu, Daniela;
    • Kraus, Alison;
    • Lippa, Natalie C.;
    • Mansukhani, Mahesh;
    • McBrian, Danielle
    Publication type:
    Article
    49

    Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
    By:
    • Serey‐Gaut, Margaux;
    • Scala, Marcello;
    • Reversade, Bruno;
    • Ruaud, Lyse;
    • Cabrol, Christelle;
    • Musacchia, Francesco;
    • Torella, Annalaura;
    • Accogli, Andrea;
    • Escande‐Beillard, Nathalie;
    • Langlais, Jean;
    • Piatelli, Gianluca;
    • Consales, Alessandro;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Van Maldergem, Lionel
    Publication type:
    Article
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