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Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1284, doi. 10.1111/j.1528-1167.2008.01976.x
By:
- Suppa, Antonio;
- Berardelli, Alfredo;
- Brancati, Francesco;
- Marianetti, Massimo;
- Barrano, Giuseppe;
- Mina, Concetta;
- Pizzuti, Antonio;
- Sideri, Giulio
Publication type:
Article
Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4742, doi. 10.3390/ijms24054742
By:
- Denaro, Maria;
- Ferro, Elisa;
- Barrano, Giuseppe;
- Meli, Salvatore;
- Busacca, Mariangela;
- Corallo, Damiano;
- Capici, Alessia;
- Zisa, Alessandra;
- Cucuzza, Luana;
- Gradante, Sandra;
- Occhipinti, Marialuisa;
- Santalucia, Paola;
- Elia, Raffaele;
- Aliquò, Angelo;
- Tibullo, Daniele;
- Fidone, Carmelo;
- Bramanti, Vincenzo
Publication type:
Article
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Published in:
Nature Genetics, 2006, v. 38, n. 6, p. 623, doi. 10.1038/ng1805
By:
- Valente, Enza Maria;
- Silhavy, Jennifer L.;
- Brancati, Francesco;
- Barrano, Giuseppe;
- Krishnaswami, Suguna Rani;
- Castori, Marco;
- Lancaster, Madeline A.;
- Boltshauser, Eugen;
- Boccone, Loredana;
- Al-Gazali, Lihadh;
- Fazzi, Elisa;
- Signorini, Sabrina;
- Louie, Carrie M.;
- Bellacchio, Emanuele;
- Bertini, Enrico;
- Dallapiccola, Bruno;
- Gleeson, Joseph G.
Publication type:
Article
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
Published in:
Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 376, doi. 10.1007/s12031-016-0754-3
By:
- Ferese, Rosangela;
- Zampatti, Stefania;
- Griguoli, Anna;
- Fornai, Francesco;
- Giardina, Emiliano;
- Barrano, Giuseppe;
- Albano, Veronica;
- Campopiano, Rosa;
- Scala, Simona;
- Novelli, Giuseppe;
- Gambardella, Stefano
Publication type:
Article
AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders.
Published in:
Annals of Neurology, 2006, v. 59, n. 3, p. 527
By:
- Enza Maria Valente;
- Francesco Brancati;
- Jennifer L. Silhavy;
- Marco Castori;
- Sarah E. Marsh;
- Giuseppe Barrano;
- Enrico Bertini;
- Eugen Boltshauser;
- Maha S. Zaki;
- Alice Abdel‐Aleem;
- Ghada M. H. Abdel‐Salam;
- Emanuele Bellacchio;
- Roberta Battini;
- Robert P. Cruse;
- William B. Dobyns;
- Kalpathy S. Krishnamoorthy;
- Clotilde Lagier‐Tourenne;
- Alex Magee;
- Ignacio Pascual‐Castroviejo;
- Carmelo D. Salpietro
Publication type:
Article
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.
Published in:
Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00865-w
By:
- Amodeo, Silvia;
- Vitrano, Giuseppe;
- Guardino, Melania;
- Paci, Giuseppe;
- Corselli, Fulvio;
- Antona, Vincenzo;
- Barrano, Giuseppe;
- Magliozzi, Monia;
- Novelli, Antonio;
- Venezia, Renato;
- Corsello, Giovanni
Publication type:
Article
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2543, doi. 10.1002/ajmg.a.34201
By:
- Alesi, Viola;
- Barrano, Giuseppe;
- Morara, Sara;
- Darelli, Daria;
- Petrilli, Katia;
- Capalbo, Anna;
- Pacella, Mario;
- Haass, Cristina;
- Finocchi, Maurizio;
- Novelli, Antonio;
- Bertoli, Marta
Publication type:
Article
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Published in:
2018
By:
- Zampatti, Stefania;
- Mela, Julia;
- Peconi, Cristina;
- Pagliaroli, Giulia;
- Carboni, Stefania;
- Barrano, Giuseppe;
- Zito, Ilaria;
- Cascella, Raffaella;
- Marella, Gianluca;
- Milano, Filippo;
- Arcangeli, Mauro;
- Caltagirone, Carlo;
- Novelli, Antonio;
- Giardina, Emiliano
Publication type:
journal article
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Published in:
Reproductive Sciences, 2021, v. 28, n. 4, p. 1142, doi. 10.1007/s43032-020-00419-9
By:
- Orlando, Valeria;
- Alesi, Viola;
- Di Giacomo, Gianluca;
- Canestrelli, Michela;
- Calacci, Chiara;
- Nardone, Anna Maria;
- Calvieri, Giusy;
- Liambo, Maria Teresa;
- Sallicandro, Ester;
- Di Tommaso, Silvia;
- Di Gregorio, Maria Grazia;
- Corrado, Francesco;
- Barrano, Giuseppe;
- Niceta, Marcello;
- Dallapiccola, Bruno;
- Novelli, Antonio
Publication type:
Article
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Published in:
Movement Disorders, 2006, v. 21, n. 10, p. 1782, doi. 10.1002/mds.21056
By:
- Gambarin, Mattia;
- Valente, Enza Maria;
- Liberini, Paolo;
- Barrano, Giuseppe;
- Bonizzato, Alberto;
- Padovani, Alessandro;
- Moretto, Giuseppe;
- Fiorio, Mirta;
- Dallapiccola, Bruno;
- Smania, Nicola;
- Fiaschi, Antonio;
- Tinazzi, Michele
Publication type:
Article

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