Gardella R - Search Results

1

Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA.

Brega A, Gardella R, Semino O, Morpurgo G, Astaldi Ricotti GB, Wallace DC, Santachiara Benerecetti AS. Brega A, et al. Among authors: gardella r. Am J Hum Genet. 1986 Oct;39(4):502-12. Am J Hum Genet. 1986. PMID: 2876631 Free PMC article.

2

Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective.

Grugni V, Raveane A, Mattioli F, Battaglia V, Sala C, Toniolo D, Ferretti L, Gardella R, Achilli A, Olivieri A, Torroni A, Passarino G, Semino O. Grugni V, et al. Among authors: gardella r. Ann Hum Biol. 2018 Feb;45(1):44-56. doi: 10.1080/03014460.2017.1409801. Ann Hum Biol. 2018. PMID: 29382284 Free article.

3

Human fibronectin gene (FN1) RFLPs: mapping and linkage disequilibrium analysis.

Gardella R, Colombi M, Barlati S. Gardella R, et al. Hum Genet. 1993 Dec;92(6):639-41. doi: 10.1007/BF00420958. Hum Genet. 1993. PMID: 7903274

4

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

5

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.

6

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

7

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.

8

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

9

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

10

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

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