R
Roberto Giorda
Researcher at Laboratory of Molecular Biology
Publications - 173
Citations - 8068
Roberto Giorda is an academic researcher from Laboratory of Molecular Biology. The author has contributed to research in topics: Gene & Chromosomal inversion. The author has an hindex of 47, co-authored 165 publications receiving 7370 citations. Previous affiliations of Roberto Giorda include Charles University in Prague & Johns Hopkins University.
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Journal ArticleDOI
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J. Sharp,Heather C Mefford,Kelly Li,Carl Baker,Cindy Skinner,Roger E. Stevenson,Richard J. Schroer,Francesca Novara,Manuela De Gregori,Roberto Ciccone,Adam Broomer,Iris Casuga,Yu Wang,Chunlin Xiao,Catalin Barbacioru,Giorgio Gimelli,Bernardo Dalla Bernardina,Claudia Torniero,Roberto Giorda,Regina Regan,Victoria Murday,Sahar Mansour,Marco Fichera,Lucia Castiglia,Pinella Failla,Mario Ventura,Zhaoshi Jiang,Gregory M. Cooper,Samantha J. L. Knight,Corrado Romano,Orsetta Zuffardi,Caifu Chen,Charles E. Schwartz,Evan E. Eichler +33 more
TL;DR: A recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms is reported, with a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.
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Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
Sabrina Giglio,Karl W. Broman,Naomichi Matsumoto,Vladimiro Calvari,Giorgio Gimelli,Thomas Neumann,Hirofumi Ohashi,Lucille Voullaire,Daniela Larizza,Roberto Giorda,James L. Weber,David H. Ledbetter,Orsetta Zuffardi +12 more
TL;DR: It is demonstrated that unequal crossovers between two OR gene clusters in 8p are responsible for the formation of three recurrent chromosome macrorearrangements and a submicroscopic inversion polymorphism, which may be possible to develop a profile of the individual risk of having progeny with chromosome rearrangements.
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CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Bernd Wissinger,Daphne Gamer,Herbert Jägle,Roberto Giorda,Tim Marx,Simone Mayer,Sabine Tippmann,Martina Broghammer,Bernhard Jurklies,Thomas Rosenberg,Samuel G. Jacobson,E. Cumhur Sener,Sinan Tatlipinar,Carel B. Hoyng,Claudio Castellan,Pierre Bitoun,Sten Andréasson,Günter Rudolph,Ulrich Kellner,Birgit Lorenz,Gerhard Wolff,Christine Verellen-Dumoulin,Marianne Schwartz,Frans P.M. Cremers,Eckart Apfelstedt-Sylla,Eberhart Zrenner,Roberto Salati,Lindsay T. Sharpe,Susanne Kohl +28 more
TL;DR: A first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.
Journal ArticleDOI
Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome
Maria Clara Bonaglia,Roberto Giorda,Renato Borgatti,G. Felisari,Chiara Gagliardi,Angelo Selicorni,Orsetta Zuffardi +6 more
TL;DR: The finding that ProSAP2 is included in the critical region of the 22q deletion syndrome and that a child with all the features of 22q13.3 deletion syndrome displays all signs and symptoms of the syndrome suggests that Pro SAP2 haploinsufficiency is the cause.
Journal Article
Constitutive Expression and Role of the TNF Family Ligands in Apoptotic Killing of Tumor Cells by Human NK Cells
TL;DR: It is demonstrated that human NK cells constitutively express several of the TNF family ligands and induce apoptosis in tumor cells by simultaneous engagement of at least three of these cytotoxic molecules.