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Items: 11

1.

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ.

Hum Mutat. 2018 Aug 17. doi: 10.1002/humu.23613. [Epub ahead of print]

PMID:
30118150
2.

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.

Salvalaio M, D'Avanzo F, Rigon L, Zanetti A, D'Angelo M, Valle G, Scarpa M, Tomanin R.

Int J Mol Sci. 2017 May 17;18(5). pii: E1072. doi: 10.3390/ijms18051072.

3.

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.

Bertoldi L, Forcato C, Vitulo N, Birolo G, De Pascale F, Feltrin E, Schiavon R, Anglani F, Negrisolo S, Zanetti A, D'Avanzo F, Tomanin R, Faulkner G, Vezzi A, Valle G.

BMC Bioinformatics. 2017 Apr 28;18(1):225. doi: 10.1186/s12859-017-1654-4.

4.

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Tomanin R, Zanetti A, D'Avanzo F, Rampazzo A, Gasparotto N, Parini R, Pascarella A, Concolino D, Procopio E, Fiumara A, Borgo A, Frigo AC, Scarpa M.

Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1.

5.

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Zanetti A, Tomanin R, Rampazzo A, Rigon C, Gasparotto N, Cassina M, Clementi M, Scarpa M.

JIMD Rep. 2014;17:13-21. doi: 10.1007/8904_2014_317. Epub 2014 Jul 25.

6.

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A, Onenli-Mungan N, Elcioglu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R.

JIMD Rep. 2014;14:1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16.

7.

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

Mazzoccoli G, Tomanin R, Mazza T, D'Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M.

BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37.

8.

Chiari 1 malformation and holocord syringomyelia in hunter syndrome.

Manara R, Concolino D, Rampazzo A, Zanetti A, Tomanin R, Faggin R, Scarpa M.

JIMD Rep. 2014;12:31-5. doi: 10.1007/8904_2013_241. Epub 2013 Jul 2.

9.

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.

Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S.

Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21.

PMID:
23707223
10.

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.

Tomanin R, Zanetti A, Zaccariotto E, D'Avanzo F, Bellettato CM, Scarpa M.

Acta Paediatr. 2012 Jul;101(7):692-701. doi: 10.1111/j.1651-2227.2012.02674.x. Epub 2012 Apr 11. Review.

PMID:
22428546
11.

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Zanetti A, Ferraresi E, Picci L, Filocamo M, Parini R, Rosano C, Tomanin R, Scarpa M.

Eur J Hum Genet. 2009 Sep;17(9):1160-4. doi: 10.1038/ejhg.2009.19. Epub 2009 Mar 4.

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