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Giorgio Gimelli
Giorgio Gimelli
Cytogenetic laboratory, institute G.Gaslini IRCCS, Genoa, Italy
Geverifieerd e-mailadres voor ospedale-Gaslini.ge.it
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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
8342008
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
6442008
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), 97-102, 2011
5242011
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
4222001
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
4121997
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
3382001
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
3181989
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, 21-51, 1980
2351980
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
2332002
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
2012007
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
1962000
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
1922011
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
1622003
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
CMR Weemaes, MJ Van Tol, J Wang, MM van Ostaijen-Ten Dam, ...
European Journal of Human Genetics 21 (11), 1219-1225, 2013
1452013
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
MM Hagleitner, A Lankester, P Maraschio, M Hultén, JP Fryns, C Schuetz, ...
Journal of medical genetics 45 (2), 93-99, 2008
1392008
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
1372007
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
1311996
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
1291999
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, 127-137, 1979
1261979
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
1112008
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