Rossi M - Search Results

1

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Among authors: rossi m. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

2

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. De Brasi D, et al. Among authors: rossi m. Eur J Hum Genet. 1999 Dec;7(8):937-40. doi: 10.1038/sj.ejhg.5200390. Eur J Hum Genet. 1999. PMID: 10602371

3

Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.

Corso G, Rossi M, De BD, Rossi I, Parenti G, Dello RA. Corso G, et al. Among authors: rossi m, rossi i. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jan 25;766(2):365-70. doi: 10.1016/s0378-4347(01)00520-5. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 11824824

4

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.

5

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Rossi M, et al. Am J Med Genet A. 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. Am J Med Genet A. 2005. PMID: 15580635 Review.

6

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).

Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G. Rossi M, et al. Clin Dysmorphol. 2005 Jan;14(1):13-18. Clin Dysmorphol. 2005. PMID: 15602087

7

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

8

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: rossi m. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

9

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.

10

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

Rossi M, Parenti G, Della Casa R, Romano A, Mansi G, Agovino T, Rosapepe F, Vosa C, Del Giudice E, Andria G. Rossi M, et al. J Child Neurol. 2007 May;22(5):565-73. doi: 10.1177/0883073807302598. J Child Neurol. 2007. PMID: 17690063 Clinical Trial.

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