Gardella R - Search Results

1

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M. Gardella R, et al. J Invest Dermatol. 2002 Dec;119(6):1456-62. doi: 10.1046/j.1523-1747.2002.19606.x. J Invest Dermatol. 2002. PMID: 12485454 Free article.

2

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.

Colombi M, Gardella R, Zoppi N, Moro L, Marini D, Spurr NK, Barlati S. Colombi M, et al. Among authors: gardella r. Hum Genet. 1992 Jul;89(5):503-7. doi: 10.1007/BF00219174. Hum Genet. 1992. PMID: 1353052

3

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M. Gardella R, et al. Am J Hum Genet. 1996 Aug;59(2):292-300. Am J Hum Genet. 1996. PMID: 8755915 Free PMC article.

4

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.

Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M. Gardella R, et al. Hum Mutat. 1999;13(6):439-52. doi: 10.1002/(SICI)1098-1004(1999)13:6<439::AID-HUMU3>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10408773

5

A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.

Gardella R, Barlati S, Zoppi N, Tadini G, Colombi M. Gardella R, et al. Hum Mutat. 2000 Sep;16(3):275. doi: 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10980546

6

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

Gardella R, Nuytinck L, Barlati S, Van Acker P, Tadini G, De Paepe A, Colombi M. Gardella R, et al. Clin Exp Dermatol. 2001 Nov;26(8):710-3. doi: 10.1046/j.1365-2230.2001.00924.x. Clin Exp Dermatol. 2001. PMID: 11722462

7

Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.

Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M. Gardella R, et al. Br J Dermatol. 2002 Sep;147(3):450-7. doi: 10.1046/j.1365-2133.2002.04914.x. Br J Dermatol. 2002. PMID: 12207583

8

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M. Drera B, et al. Among authors: gardella r. Clin Genet. 2006 Oct;70(4):339-47. doi: 10.1111/j.1399-0004.2006.00679.x. Clin Genet. 2006. PMID: 16965329

9

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.

Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M. Zoppi N, et al. Among authors: gardella r. J Biol Chem. 2004 Apr 30;279(18):18157-68. doi: 10.1074/jbc.M312609200. Epub 2004 Feb 17. J Biol Chem. 2004. PMID: 14970208 Free article.

10

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M. Gardella R, et al. Am J Med Genet A. 2004 Apr 30;126A(3):221-8. doi: 10.1002/ajmg.a.20589. Am J Med Genet A. 2004. PMID: 15054833

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