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Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: novelli g. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835
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.
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: novelli g. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
1,199 results