Chiarelli N - 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. Among authors: chiarelli n. 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

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. Int J Dev Biol. 2011;55(2):229-36. doi: 10.1387/ijdb.103179nc. Int J Dev Biol. 2011. PMID: 21553381 Free article.

3

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: chiarelli n. 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

4

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: chiarelli n. 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

5

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. Among authors: chiarelli n. 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.

6

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: chiarelli n. BMC Med Genet. 2014 Jan 7;15:3. doi: 10.1186/1471-2350-15-3. BMC Med Genet. 2014. PMID: 24397858 Free PMC article.

7

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: chiarelli n. J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18. J Dermatol Sci. 2014. PMID: 24815019 No abstract available.

8

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: chiarelli n. BMC Med Genet. 2014 Aug 28;15:91. doi: 10.1186/s12881-014-0091-8. BMC Med Genet. 2014. PMID: 25163805 Free PMC article.

9

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.

Castori M, Dordoni C, Valiante M, Sperduti I, Ritelli M, Morlino S, Chiarelli N, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Castori M, et al. Among authors: chiarelli n. Am J Med Genet A. 2014 Dec;164A(12):3010-20. doi: 10.1002/ajmg.a.36805. Epub 2014 Oct 22. Am J Med Genet A. 2014. PMID: 25338840

10

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M. Ritelli M, et al. Among authors: chiarelli n. BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. BMC Med Genet. 2014. PMID: 25373504 Free PMC article. Review.

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