Gimelli, Stefania, Beri, Silvana, Drabkin, Harry A, Gambini, Claudio, Gregorio, Andrea, Fiorio, Patrizia, ...
Abstract Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act...
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes (2008)
Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, ...
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that in three patients both...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J, Selzer, Rebecca R, Veltman, Joris A, Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both...
Gimelli, Giorgio, Pujana, Miguel Angel, Patricelli, Maria Grazia, Russo, Silvia, Giardino, Daniela, Larizza, Lidia, ...
Parental submicroscopic genomic inversions have recently been demonstrated to be present in several genomic disorders. These inversions are genomic polymorphisms that facilitate misalignment and...
Giglio, Sabrina, Calvari, Vladimiro, Gregato, Giuliana, Gimelli, Giorgio, Camanini, Silvia, Giorda, Roberto, ...
The t(4;8)(p16;p23) translocation, in either the balanced form or the unbalanced form, has been reported several times. Taking into consideration the fact that this translocation may be undetected in...
Hansen, R. Scott, Stöger, Reinhard, Wijmenga, Cisca, Stanek, Ann M., Canfield, Theresa K., Luo, Ping, ...
Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome. We, as well as others, have found that these effects...
Endovascular Treatment of a Noninfected Anastomotic Juxtarenal Aortic Aneurysm
Melissano, Germano, Di Mario, Carlo, Tshomba, Yamume, Civilini, Efrem, Gimelli, Giorgio, Nicoletti, Roberto, ...
An 82-year-old man underwent an endovascular procedure with a commercially available endovascular graft for an anastomotic juxtarenal abdominal aortic aneurysm. The anastomotic aneurysm, which showed...
Giglio, Sabrina, Broman, Karl W., Matsumoto, Naomichi, Calvari, Vladimiro, Gimelli, Giorgio, Neumann, Thomas, ...
The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with ⩾10 members located on almost all human chromosomes, and...
Endovascular Treatment of a Noninfected Anastomotic Juxtarenal Aortic Aneurysm
Melissano, Germano, Di Mario, Carlo, Tshomba, Yamume, Civilini, Efrem, Gimelli, Giorgio, Nicoletti, Roberto, ...
An 82-year-old man underwent an endovascular procedure with a commercially available endovascular graft for an anastomotic juxtarenal abdominal aortic aneurysm. The anastomotic aneurysm, which showed...
Giglio, Sabrina, Calvari, Vladimiro, Gregato, Giuliana, Gimelli, Giorgio, Camanini, Silvia, Giorda, Roberto, ...
The t(4;8)(p16;p23) translocation, in either the balanced form or the unbalanced form, has been reported several times. Taking into consideration the fact that this translocation may be undetected in...
Giglio, Sabrina, Broman, Karl W., Matsumoto, Naomichi, Calvari, Vladimiro, Gimelli, Giorgio, Neumann, Thomas, ...
The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with ⩾10 members located on almost all human chromosomes, and...