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European lipodystrophy registry: background and structure.
von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, Hennekam RCM, Jeru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Santos Silva E, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Tanteles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M. von Schnurbein J, et al. Among authors: novelli g. Orphanet J Rare Dis. 2020 Jan 15;15(1):17. doi: 10.1186/s13023-020-1295-y. Orphanet J Rare Dis. 2020. PMID: 31941540 Free PMC article.
Towards the pharmacogenomics of cystic fibrosis.
Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G. Sangiuolo F, et al. Among authors: novelli g. Pharmacogenomics. 2002 Jan;3(1):75-87. doi: 10.1517/14622416.3.1.75. Pharmacogenomics. 2002. PMID: 11966405 Review.
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.
Toward the pharmacogenomics of cystic fibrosis--an update.
Sangiuolo F, D'Apice MR, Gambardella S, Di Daniele N, Novelli G. Sangiuolo F, et al. Among authors: novelli g. Pharmacogenomics. 2004 Oct;5(7):861-78. doi: 10.1517/14622416.5.7.861. Pharmacogenomics. 2004. PMID: 15469408 Review.
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G. Capanni C, et al. Among authors: novelli g. Hum Mol Genet. 2005 Jun 1;14(11):1489-502. doi: 10.1093/hmg/ddi158. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843404
1,179 results