Ritelli M - Search Results

1

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M. Gamberucci A, et al. Among authors: ritelli m. Int J Mol Sci. 2017 Aug 22;18(8):1820. doi: 10.3390/ijms18081820. Int J Mol Sci. 2017. PMID: 28829359 Free PMC article.

2

The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathway.

Zoppi N, Ritelli M, Salvi A, Colombi M, Barlati S. Zoppi N, et al. Among authors: ritelli m. Biochim Biophys Acta. 2007 Jun;1773(6):747-63. doi: 10.1016/j.bbamcr.2007.02.007. Epub 2007 Feb 24. Biochim Biophys Acta. 2007. PMID: 17383746 Free article.

3

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M. Ritelli M, et al. Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20. Orphanet J Rare Dis. 2009. PMID: 19781076 Free PMC article.

4

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. Orphanet J Rare Dis. 2009. PMID: 19883511 Free PMC article.

5

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Chiarelli N, Ritelli M, Zoppi N, Benini A, Borsani G, Barlati S, Colombi M. Chiarelli N, et al. Among authors: ritelli m. Int J Dev Biol. 2011;55(2):229-36. doi: 10.1387/ijdb.103179nc. Int J Dev Biol. 2011. PMID: 21553381 Free article.

6

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Castori M, et al. Among authors: ritelli m. Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488877

7

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

Zoppi N, Ritelli M, Colombi M. Zoppi N, et al. Among authors: ritelli m. Biochim Biophys Acta. 2012 Oct;1820(10):1576-87. doi: 10.1016/j.bbagen.2012.06.004. Epub 2012 Jun 15. Biochim Biophys Acta. 2012. PMID: 22705941

8

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, Calzavara-Pinton P, Colombi M. Dordoni C, et al. Among authors: ritelli m. Am J Med Genet A. 2013 May;161A(5):1143-7. doi: 10.1002/ajmg.a.35825. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23533212

9

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. Orphanet J Rare Dis. 2013. PMID: 23587214 Free PMC article.

10

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P. Castori M, et al. Among authors: ritelli m. Am J Med Genet A. 2014 Feb;164A(2):528-34. doi: 10.1002/ajmg.a.36301. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311540 Review.

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