Ritelli M - Search Results

1

Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Br J Dermatol. 2013 Apr;168(4):904-6. doi: 10.1111/bjd.12063. Epub 2013 Jan 31. Br J Dermatol. 2013. PMID: 23013315 No abstract available.

2

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.

Drera B, Ritelli M, Tadini G, Zoppi N, Venturini M, Calzavara-Pinton PG, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. J Dermatol Sci. 2009 Mar;53(3):222-5. doi: 10.1016/j.jdermsci.2008.09.005. Epub 2008 Oct 25. J Dermatol Sci. 2009. PMID: 18951764 No abstract available.

3

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.

4

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M. Drera B, et al. Among authors: ritelli m. J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. J Dermatol Sci. 2011. PMID: 22019127 No abstract available.

5

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

6

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

7

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Castori M, et al. Among authors: ritelli m. Am J Med Genet A. 2012 Sep;158A(9):2176-82. doi: 10.1002/ajmg.a.35506. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847925 Review.

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

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Jeannin G, Chiarelli N, Gaggiotti M, Ritelli M, Maiorca P, Quinzani S, Verzeletti F, Possenti S, Colombi M, Cancarini G. Jeannin G, et al. Among authors: ritelli m. BMC Med Genet. 2014 Jan 7;15:3. doi: 10.1186/1471-2350-15-3. BMC Med Genet. 2014. PMID: 24397858 Free PMC article.

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