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Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G. Rossi M, et al. Am J Med Genet. 2002 Jul 15;110(4):353-8. doi: 10.1002/ajmg.10440. Am J Med Genet. 2002. PMID: 12116209 Review.
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
Rossi M, Federico G, Corso G, Parenti G, Battagliese A, Frascogna AR, Della Casa R, Dello Russo A, Strisciuglio P, Saggese G, Andria G. Rossi M, et al. J Inherit Metab Dis. 2005;28(1):69-80. doi: 10.1007/s10545-005-3676-8. J Inherit Metab Dis. 2005. PMID: 15702407
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Parenti G, et al. Among authors: rossi m, rossi b. Mol Ther. 2007 Mar;15(3):508-14. doi: 10.1038/sj.mt.6300074. Epub 2007 Jan 9. Mol Ther. 2007. PMID: 17213836 Free article.
Clinical phenotype of lathosterolosis.
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G. Rossi M, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. Am J Med Genet A. 2007. PMID: 17853487
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Zollino M, et al. Among authors: rossi m. J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424144
6,238 results