Giorgio Gimelli
Giorgio Gimelli
Cytogenetic laboratory, institute G.Gaslini IRCCS, Genoa, Italy
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Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
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, 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
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97, 2011
Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres
PE Warburton, CA Cooke, S Bourassa, O Vafa, BA Sullivan, G Stetten, ...
Current Biology 7 (11), 901-904, 1997
Intravascular ultrasound criteria for the assessment of the functional significance of intermediate coronary artery stenoses and comparison with fractional flow reserve
C Briguori, A Anzuini, F Airoldi, G Gimelli, T Nishida, M Adamian, ...
The American journal of cardiology 87 (2), 136-141, 2001
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
A Ballabio, B Bardoni, R Carrozzo, G Andria, D Bick, L Campbell, ...
Proceedings of the National Academy of Sciences 86 (24), 10001-10005, 1989
The 11q; 22q translocation: a European collaborative analysis of 43 cases
M Fraccaro, J Lindsten, CE Ford, L Iselius, A Antonelli, P Aula, A Aurias, ...
Human genetics 56 (1), 21-51, 1980
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
Characterization of a recurrent 15q24 microdeletion syndrome
AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, ...
Human molecular genetics 16 (5), 567-572, 2007
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
RS Hansen, R Stöger, C Wijmenga, AM Stanek, TK Canfield, P Luo, ...
Human molecular genetics 9 (18), 2575-2587, 2000
Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
G Gimelli, MA Pujana, MG Patricelli, S Russo, D Giardino, L Larizza, ...
Human molecular genetics 12 (8), 849-858, 2003
The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications.
G Floridia, M Piantanida, A Minelli, C Dellavecchia, C Bonaglia, E Rossi, ...
American journal of human genetics 58 (4), 785, 1996
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
JC De Greef, J Wang, J Balog, JT Den Dunnen, RR Frants, ...
The American Journal of Human Genetics 88 (6), 796-804, 2011
Transmission of a fully functional human neocentromere through three generations
C Tyler-Smith, G Gimelli, S Giglio, G Floridia, A Pandya, G Terzoli, ...
The American Journal of Human Genetics 64 (5), 1440-1444, 1999
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
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency
L Tiepolo, P Maraschio, G Gimelli, C Cuoco, GF Gargani, C Romano
Human genetics 51 (2), 127-137, 1979
Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10
G Martucciello, MP Bicocchi, P Dodero, M Lerone, MS Cirillo, A Puliti, ...
Pediatric surgery international 7 (4), 308-310, 1992
First trimester fetal karyotyping: one thousand diagnoses
G Simoni, G Gimelli, C Cuoco, L Romitti, G Terzoli, S Guerneri, F Rossella, ...
Human genetics 72 (3), 203-209, 1986
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
S Giglio, SL Graw, G Gimelli, B Pirola, P Varone, L Voullaire, F Lerzo, ...
Circulation 102 (4), 432-437, 2000
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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