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Items: 1 to 20 of 27

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.

False positive screen test for mucopolysaccharidoses in healthy female newborns.

Monachesi C, Zampini L, Padella L, Marchesiello RL, Galeazzi T, Santoro L, Catassi C, Gasparrini E, Carnielli VP, Volpi N, Fiumara A, Concolino D, Tomanin R, Coppa GV, Gabrielli O.

Clin Chim Acta. 2018 Aug 12;486:221-223. doi: 10.1016/j.cca.2018.08.016. [Epub ahead of print]

PMID:
30110607
3.

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E.

Hum Mol Genet. 2018 Jul 1;27(13):2407. doi: 10.1093/hmg/ddy208. No abstract available.

PMID:
29917101
4.

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E.

Hum Mol Genet. 2018 Jul 1;27(13):2262-2275. doi: 10.1093/hmg/ddy131.

PMID:
29648648
5.

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.

6.

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.

7.

Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.

Costa R, Urbani A, Salvalaio M, Bellesso S, Cieri D, Zancan I, Filocamo M, Bonaldo P, Szabò I, Tomanin R, Moro E.

Hum Mol Genet. 2017 May 1;26(9):1643-1655. doi: 10.1093/hmg/ddx069.

PMID:
28334757
8.

Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application.

Maccari F, Galeotti F, Zampini L, Padella L, Tomanin R, Concolino D, Fiumara A, Galeazzi T, Coppa G, Gabrielli O, Volpi N.

Clin Chim Acta. 2016 Dec 1;463:67-72. doi: 10.1016/j.cca.2016.10.012. Epub 2016 Oct 11.

PMID:
27737736
9.

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.

Zalfa C, Verpelli C, D'Avanzo F, Tomanin R, Vicidomini C, Cajola L, Manara R, Sala C, Scarpa M, Vescovi AL, De Filippis L.

Cell Death Dis. 2016 Aug 11;7(8):e2331. doi: 10.1038/cddis.2016.231.

10.

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders.

Salvalaio M, Rigon L, Belletti D, D'Avanzo F, Pederzoli F, Ruozi B, Marin O, Vandelli MA, Forni F, Scarpa M, Tomanin R, Tosi G.

PLoS One. 2016 May 26;11(5):e0156452. doi: 10.1371/journal.pone.0156452. eCollection 2016.

11.

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.

12.

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.

13.

A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.

Gucciardi A, Legnini E, Di Gangi IM, Corbetta C, Tomanin R, Scarpa M, Giordano G.

Biomed Chromatogr. 2014 Aug;28(8):1131-9. doi: 10.1002/bmc.3133. Epub 2014 Jan 22.

PMID:
24449175
14.

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.

15.

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.

16.

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
17.

Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia.

Grisafi D, Pozzobon M, Dedja A, Vanzo V, Tomanin R, Porzionato A, Macchi V, Salmaso R, Scarpa M, Cozzi E, Fassina A, Navaglia F, Maran C, Onisto M, Caenazzo L, De Coppi P, De Caro R, Chiandetti L, Zaramella P.

Pediatr Pulmonol. 2013 Nov;48(11):1070-80. doi: 10.1002/ppul.22791. Epub 2013 Mar 26.

PMID:
23533160
18.

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
19.

Predictive medicine and biomarkers: the case of rare diseases.

Taruscio D, Salvatore M, Magrelli A, Tomanin R.

Per Med. 2012 Mar;9(2):143-146. doi: 10.2217/pme.12.17. No abstract available.

PMID:
29758815
20.

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases.

Scarpa M, Ceci A, Tomanin R, Mincarone P, Begley D.

EPMA J. 2011 Jun;2(2):231-9. doi: 10.1007/s13167-011-0081-2. Epub 2011 May 1.

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