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Page 1
Towards the pharmacogenomics of cystic fibrosis.
Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G. Sangiuolo F, et al. 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. Pharmacogenomics. 2004 Oct;5(7):861-78. doi: 10.1517/14622416.5.7.861. Pharmacogenomics. 2004. PMID: 15469408 Review.
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. Lombardi F, et al. J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. doi: 10.1210/jc.2007-0116. Epub 2007 Sep 11. J Clin Endocrinol Metab. 2007. PMID: 17848409
88 results