Year |
Citation |
Score |
2012 |
Jennes I, Zuntini M, Mees K, Palagani A, Pedrini E, De Cock G, Fransen E, Vanden Berghe W, Sangiorgi L, Wuyts W. Identification and functional characterization of the human EXT1 promoter region. Gene. 492: 148-59. PMID 22037484 DOI: 10.1016/J.Gene.2011.10.034 |
0.482 |
|
2011 |
Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. The Journal of Bone and Joint Surgery. American Volume. 93: 2294-302. PMID 22258776 DOI: 10.2106/Jbjs.J.00949 |
0.338 |
|
2011 |
Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W. Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. Bmc Medical Genetics. 12: 85. PMID 21703028 DOI: 10.1186/1471-2350-12-85 |
0.372 |
|
2011 |
Szuhai K, Jennes I, de Jong D, Bovée JV, Wiweger M, Wuyts W, Hogendoorn PC. Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Human Mutation. 32: E2036-49. PMID 21280143 DOI: 10.1002/Humu.21423 |
0.498 |
|
2009 |
Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Human Mutation. 30: 1620-7. PMID 19810120 DOI: 10.1002/Humu.21123 |
0.528 |
|
2008 |
Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. The Journal of Molecular Diagnostics : Jmd. 10: 85-92. PMID 18165274 DOI: 10.2353/Jmoldx.2008.070086 |
0.465 |
|
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