Works by Capra, Valeria

Results: 93

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Published in:

Epileptic Disorders, 2023, v. 25, n. 6, p. 874, doi. 10.1002/epd2.20141

By:

Boeri, Silvia;
Scala, Marcello;
Madia, Francesca;
Perucco, Francesca;
Vozzi, Diego;
Capra, Valeria;
Zara, Federico;
Nobili, Lino;
Mancardi, Maria Margherita

Publication type:

Article

Current perspectives on the genetic causes of neural tube defects.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 201, doi. 10.1007/s10048-006-0052-2

By:

Marco, Patrizia;
Merello, Elisa;
Mascelli, Samantha;
Capra, Valeria

Publication type:

Article

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 8, p. 1003, doi. 10.1002/pd.6596

By:

Biancotto, Giulia;
Rosti, Giulia;
Madia, Francesca;
Capra, Valeria;
Scala, Marcello;
Aleo, Elena;
Paladini, Dario

Publication type:

Article

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214

By:

Lemay, Philippe;
Marco, Patrizia;
Emond, Alexandre;
Spiegelman, Dan;
Dionne‐Laporte, Alexandre;
Laurent, Sandra;
Merello, Elisa;
Accogli, Andrea;
Rouleau, Guy A;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

FZD6 is a novel gene for human neural tube defects.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 384, doi. 10.1002/humu.21643

By:

De Marco, Patrizia;
Merello, Elisa;
Rossi, Andrea;
Piatelli, Gianluca;
Cama, Armando;
Kibar, Zoha;
Capra, Valeria

Publication type:

Article

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

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1371, doi. 10.1002/humu.21589

By:

Bosoi, Ciprian M.;
Capra, Valeria;
Allache, Redouane;
Trinh, Vincent Quoc-Huy;
De Marco, Patrizia;
Merello, Elisa;
Drapeau, Pierre;
Bassuk, Alexander G.;
Kibar, Zoha

Publication type:

Article

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

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

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Published in:

2023

By:

Cabrita Pinto, Rute Luísa;
Viaggi, Silvia;
Canale, Edoardo;
Martinez Popple, Marina;
Capra, Valeria;
Conteduca, Giuseppina;
Testa, Barbara;
Coviello, Domenico;
Covone, Angela Elvira

Publication type:

Case Study

Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature.

Published in:

Genes, 2022, v. 13, n. 4, p. 581, doi. 10.3390/genes13040581

By:

Morabito, Letteria Anna;
Allegri, Anna Elsa Maria;
Capra, Anna Paola;
Capasso, Mario;
Capra, Valeria;
Garaventa, Alberto;
Maghnie, Mohamad;
Briuglia, Silvana;
Wasniewska, Malgorzata Gabriela

Publication type:

Article

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

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

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

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

Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients.

Published in:

Brain Pathology, 2009, v. 19, n. 4, p. 650, doi. 10.1111/j.1750-3639.2008.00229.x

By:

Izzotti, Alberto;
Pulliero, Alessandra;
Orcesi, Simona;
Cartiglia, Cristina;
Longobardi, Maria G.;
Capra, Valeria;
Lebon, Pierre;
Cama, Armando;
La Piana, Roberta;
Lanzi, Giovanni;
Fazzi, Elisa

Publication type:

Article

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

Published in:

2013

By:

Mascelli, Samantha;
Barla, Annalisa;
Raso, Alessandro;
Mosci, Sofia;
Nozza, Paolo;
Biassoni, Roberto;
Morana, Giovanni;
Huber, Martin;
Mircean, Cristian;
Fasulo, Daniel;
Noy, Karin;
Wittemberg, Gayle;
Pignatelli, Sara;
Piatelli, Gianluca;
Cama, Armando;
Garré, Maria Luisa;
Capra, Valeria;
Verri, Alessandro

Publication type:

journal article

Erratum to: Genetic Screening of Pediatric Cavernous Malformations.

Published in:

2017

By:

Merello, Elisa;
Pavanello, Marco;
Consales, Alessandro;
Mascelli, Samantha;
Raso, Alessandro;
Accogli, Andrea;
Cama, Armando;
Capra, Valeria;
De Marco, Patrizia

Publication type:

Erratum

Genetic Screening of Pediatric Cavernous Malformations.

Published in:

Journal of Molecular Neuroscience, 2016, v. 60, n. 2, p. 232, doi. 10.1007/s12031-016-0806-8

By:

Merello, Elisa;
Pavanello, Marco;
Consales, Alessandro;
Mascelli, Samantha;
Raso, Alessandro;
Accogli, Andrea;
Cama, Armando;
Valeria, Capra;
De Marco, Patrizia

Publication type:

Article

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

Published in:

Journal of Molecular Neuroscience, 2013, v. 49, n. 3, p. 582, doi. 10.1007/s12031-012-9871-9

By:

Marco, Patrizia;
Merello, Elisa;
Consales, Alessandro;
Piatelli, Gianluca;
Cama, Armando;
Kibar, Zoha;
Capra, Valeria

Publication type:

Article

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations.

Published in:

Journal of Molecular Neuroscience, 2012, v. 47, n. 3, p. 475, doi. 10.1007/s12031-012-9741-5

By:

Mosca, Lorena;
Pileggi, Silvana;
Avemaria, Francesca;
Tarlarini, Claudia;
Cigoli, Maria;
Capra, Valeria;
Marco, Patrizia;
Pavanello, Marco;
Marocchi, Alessandro;
Penco, Silvana

Publication type:

Article

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

Published in:

Acta Neuropathologica, 2005, v. 110, n. 2, p. 205, doi. 10.1007/s00401-005-1048-y

By:

Nozza, Paolo;
Raso, Alessandro;
Rossi, Andrea;
Milanaccio, Claudia;
Pezzolo, Annalisa;
Capra, Valeria;
Gambini, Claudio;
Pietsch, Torsten

Publication type:

Article

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Published in:

Cells (2073-4409), 2019, v. 8, n. 10, p. 1198, doi. 10.3390/cells8101198

By:

Wang, Mingqin;
de Marco, Patrizia;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110438

By:

Cigoli, Maria Sole;
Avemaria, Francesca;
De Benedetti, Stefano;
Gesu, Giovanni P.;
Accorsi, Lucio Giordano;
Parmigiani, Stefano;
Corona, Maria Franca;
Capra, Valeria;
Mosca, Andrea;
Giovannini, Simona;
Notturno, Francesca;
Ciccocioppo, Fausta;
Volpi, Lilia;
Estienne, Margherita;
De Michele, Giuseppe;
Antenora, Antonella;
Bilo, Leda;
Tavoni, Antonietta;
Zamponi, Nelia;
Alfei, Enrico

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057910

By:

Capra, Valeria;
Mascelli, Samantha;
Garrè, Maria Luisa;
Nozza, Paolo;
Vaccari, Carlotta;
Bricco, Lara;
Sloan-Béna, Frédérique;
Gimelli, Stefania;
Cuoco, Cristina;
Gimelli, Giorgio;
Tassano, Elisa

Publication type:

Article

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Published in:

2019

By:

Scala, Marcello;
Morana, Giovanni;
Sementa, Angela R.;
Merla, Giuseppe;
Piatelli, Gianluca;
Capra, Valeria;
Pavanello, Marco

Publication type:

Case Study

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

Published in:

2016

By:

Mascelli, Samantha;
Nozza, Paolo;
Sak, Katrin;
Joost, Kairit;
Cama, Armando;
Capra, Valeria;
Garrè, Maria Luisa;
Raso, Alessandro

Publication type:

Letter

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

Published in:

Pediatric Blood & Cancer, 2009, v. 52, n. 2, p. 303, doi. 10.1002/pbc.21796

By:

Capra, Valeria;
Consales, Alessandro;
Nozza, Paola;
Monti, Paola;
Inga, Alberto;
Fronza, Gilberto

Publication type:

Article

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

Chiari malformation type I: what information from the genetics?

Published in:

Child's Nervous System, 2019, v. 35, n. 10, p. 1665, doi. 10.1007/s00381-019-04322-w

By:

Capra, Valeria;
Iacomino, Michele;
Accogli, Andrea;
Pavanello, Marco;
Zara, Federico;
Cama, Armando;
De Marco, Patrizia

Publication type:

Article

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

Published in:

Child's Nervous System, 2018, v. 34, n. 7, p. 1311, doi. 10.1007/s00381-018-3833-7

By:

Scala, Marcello;
Capra, Valeria;
Ravegnani, Marcello;
Pavanello, Marco;
Fiaschi, Pietro;
Garrè, Maria Luisa;
Tortora, Domenico

Publication type:

Article

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

Published in:

Child's Nervous System, 2011, v. 27, n. 7, p. 1073, doi. 10.1007/s00381-010-1372-y

By:

Marco, Patrizia;
Merello, Elisa;
Calevo, Maria;
Mascelli, Samantha;
Pastorino, Daniela;
Crocetti, Lucia;
Biasio, Pierangela;
Piatelli, Gianluca;
Cama, Armando;
Capra, Valeria

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2006, v. 51, n. 2, p. 98, doi. 10.1007/s10038-005-0329-6

By:

De Marco, Patrizia;
Merello, Elisa;
Calevo, Maria Grazia;
Mascelli, Samantha;
Raso, Alessandro;
Cama, Armando;
Capra, Valeria

Publication type:

Article

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 12, p. 2307, doi. 10.1093/hmg/ddx122

By:

Kharfallah, Fares;
Guyot, Marie Claude;
El Hassan, Abdul Rahman;
Allache, Redouane;
Merello, Elisa;
De Marco, Patrizia;
Di Cristo, Graziella;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4185, doi. 10.1093/hmg/ddu192

By:

Allache, Redouane;
Lachance, Stéphanie;
Guyot, Marie Claude;
De Marco, Patrizia;
Merello, Elisa;
Justice, Monica J.;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1687, doi. 10.1093/hmg/ddt558

By:

Allache, Redouane;
Lachance, Stéphanie;
Guyot, Marie Claude;
De Marco, Patrizia;
Merello, Elisa;
Justice, Monica J.;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

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

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

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

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

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

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534

By:

Accogli, Andrea;
Scala, Marcello;
Calcagno, Annalisa;
Castello, Raffaele;
Torella, Annalaura;
Musacchia, Francesco;
Allegri, Anna M. E.;
Mancardi, Maria M.;
Maghnie, Mohamad;
Severino, Mariasavina;
Nigro, Vincenzo;
Capra, Valeria

Publication type:

Article

A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593

By:

Scala, Marcello;
Accogli, Andrea;
De Grandis, Elisa;
Allegri, Anna;
Bagowski, Christoph P.;
Shoukier, Moneef;
Maghnie, Mohamad;
Capra, Valeria

Publication type:

Article

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212

By:

Santoro, Claudia;
Di Rocco, Federico;
Kossorotoff, Manoelle;
Zerah, Michel;
Boddaert, Nathalie;
Calmon, Raphael;
Vidaud, Dominique;
Cirillo, Mario;
Cinalli, Giuseppe;
Mirone, Giuseppe;
Giugliano, Teresa;
Piluso, Giulio;
D'Amico, Alessandra;
Capra, Valeria;
Pavanello, Marco;
Cama, Armando;
Nobili, Bruno;
Lyonnet, Stanislas;
Perrotta, Silverio

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 646, doi. 10.1002/ajmg.a.36933

By:

Accogli, Andrea;
Pacetti, Mattia;
Fiaschi, Pietro;
Pavanello, Marco;
Piatelli, Gianluca;
Nuzzi, Daniele;
Baldi, Maurizia;
Tassano, Elisa;
Severino, Maria Savina;
Allegri, Anna;
Capra, Valeria

Publication type:

Article

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742

By:

Capra, Valeria;
Biancheri, Roberta;
Morana, Giovanni;
Striano, Pasquale;
Novara, Francesca;
Ferrero, Giovanni Battista;
Boeri, Luca;
Celle, Maria ElENa;
Mancardi, Maria Margherita;
Zuffardi, Orsetta;
Parrini, ElENa;
Guerrini, RENzo

Publication type:

Article

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323

By:

Scala, Marcello;
Grandis, Elisa De;
Nobile, Giulia;
Iacomino, Michele;
Madia, Francesca;
Capra, Valeria;
Nobili, Lino;
Zara, Federico;
Striano, Pasquale

Publication type:

Article

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

Published in:

2019

By:

Mori, Roberta De;
Severino, Mariasavina;
Mancardi, Maria Margherita;
Anello, Danila;
Tardivo, Silvia;
Biagini, Tommaso;
Capra, Valeria;
Casella, Antonella;
Cereda, Cristina;
Copeland, Brett R;
Gagliardi, Stella;
Gamucci, Alessandra;
Ginevrino, Monia;
Illi, Barbara;
Lorefice, Elisa;
Musaev, Damir;
Stanley, Valentina;
Micalizzi, Alessia;
Gleeson, Joseph G;
Mazza, Tommaso

Publication type:

journal article

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

Published in:

Journal of Genetics, 2019, v. 98, n. 2, p. N.PAG, doi. 10.1007/s12041-019-1107-0

By:

Tassano, Elisa;
Ronchetto, Patrizia;
Calcagno, Annalisa;
Fiorio, Patrizia;
Gimelli, Giorgio;
Capra, Valeria;
Scala, Marcello

Publication type:

Article

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

Brainstem Anomalies in Two Patients Affected by Congenital Central Hypoventilation Syndrome.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 6, p. 706, doi. 10.1164/rccm.200602-266CR

By:

Bachetti, Tiziana;
Robbiano, Angela;
Parodi, Sara;
Matera, Ivana;
Merello, Elisa;
Capra, Valeria;
Baglietto, Maria Pia;
Rossi, Andrea;
Ceccherini, Isabella;
Ottonello, Giancarlo

Publication type:

Article