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Mandibuloacral dysplasia type A in childhood.
Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Garavelli L, et al. Among authors: novelli g. Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005. Am J Med Genet A. 2009. PMID: 19764019
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.
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
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.
Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G. Filesi I, et al. Among authors: novelli g. Physiol Genomics. 2005 Oct 17;23(2):150-8. doi: 10.1152/physiolgenomics.00060.2005. Epub 2005 Jul 26. Physiol Genomics. 2005. PMID: 16046620 Free article.
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. Among authors: novelli g. 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
Diagnosis of atypical CF: a case-report to reflect.
Alghisi F, Angioni A, Tomaiuolo AC, D'Apice MR, Bella S, Novelli G, Lucidi V. Alghisi F, et al. Among authors: novelli g. J Cyst Fibros. 2008 Jul;7(4):292-294. doi: 10.1016/j.jcf.2007.11.002. Epub 2008 Jan 3. J Cyst Fibros. 2008. PMID: 18180206 Free article.
1,201 results