Roberto Giorda
Roberto Giorda
Biologist, "E. Medea" SCientific Institute
Verified email at
Cited by
Cited by
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ...
Nature genetics 40 (3), 322-328, 2008
Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ...
The American Journal of Human Genetics 68 (4), 874-883, 2001
Disruption of the ProSAP2 gene in at (12; 22)(q24. 1; q13. 3) is associated with the 22q13. 3 deletion syndrome
MC Bonaglia, R Giorda, R Borgatti, G Felisari, C Gagliardi, A Selicorni, ...
The American Journal of Human Genetics 69 (2), 261-268, 2001
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger, D Gamer, H Jšgle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001
NKR-P1, a signal transduction molecule on natural killer cells
R Giorda, WA Rudert, C Vavassori, WH Chambers, JC Hiserodt, M Trucco
Science 249 (4974), 1298-1300, 1990
Constitutive expression and role of the TNF family ligands in apoptotic killing of tumor cells by human NK cells
Y Kashii, R Giorda, RB Herberman, TL Whiteside, NL Vujanovic
The Journal of Immunology 163 (10), 5358-5366, 1999
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13. 3 deletion syndrome
MC Bonaglia, R Giorda, E Mani, G Aceti, BM Anderlid, A Baroncini, ...
Journal of medical genetics 43 (10), 822-828, 2006
Heterozygous submicroscopic inversions involving olfactory receptor–gene clusters mediate the recurrent t (4; 8)(p16; p23) translocation
S Giglio, V Calvari, G Gregato, G Gimelli, S Camanini, R Giorda, ...
The American Journal of Human Genetics 71 (2), 276-285, 2002
Influence of the serotonin transporter promoter gene and shyness on children’s cerebral responses to facial expressions
M Battaglia, A Ogliari, A Zanoni, A Citterio, U Pozzoli, R Giorda, C Maffei, ...
Archives of general psychiatry 62 (1), 85-94, 2005
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ...
PLoS genetics 7 (7), e1002173, 2011
Mouse NKR-P1. A family of genes selectively coexpressed in adherent lymphokine-activated killer cells.
R Giorda, M Trucco
Journal of immunology (Baltimore, Md.: 1950) 147 (5), 1701-1708, 1991
Silencer elements as possible inhibitors of pseudoexon splicing
M Sironi, G Menozzi, L Riva, R Cagliani, GP Comi, N Bresolin, R Giorda, ...
Nucleic acids research 32 (5), 1783-1791, 2004
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
M Ventura, JM Mudge, V Palumbo, S Burn, E Blennow, M Pierluigi, ...
Genome Research 13 (9), 2059-2068, 2003
SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: a systematic review of literature
L Provenzi, R Giorda, S Beri, R Montirosso
Neuroscience & Biobehavioral Reviews 71, 7-20, 2016
A family-based association study does not support DYX1C1 on 15q21. 3 as a candidate gene in developmental dyslexia
C Marino, R Giorda, M Luisa Lorusso, L Vanzin, N Salandi, M Nobile, ...
European Journal of Human Genetics 13 (4), 491-499, 2005
Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t (2; 7) translocation
R Bocciardi, R Giorda, J Buttgereit, S Gimelli, MT Divizia, S Beri, ...
Human mutation 28 (7), 724-731, 2007
Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene
R Giorda, M Hagiya, T Seki, M Shimonishi, H Sakai, J Michaelson, ...
Molecular Medicine 2 (1), 97-108, 1996
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
AT Pagnamenta, H Khan, S Walker, D Gerrelli, K Wing, MC Bonaglia, ...
Journal of medical genetics 48 (1), 48-54, 2011
Rat natural killer cell antigen, NKR-P1, related to C-type animal lectins is a carbohydrate-binding protein
K Bezouska, G Vlahas, O HorvŠth, G JinochovŠ, A Fiserova, R Giorda, ...
Journal of Biological Chemistry 269 (24), 16945-16952, 1994
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype
MC Bonaglia, R Ciccone, G Gimelli, S Gimelli, S Marelli, J Verheij, ...
European Journal of Human Genetics 16 (12), 1443-1449, 2008
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