Meneguzzi G - Search Results

1

Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

Posteraro P, De Luca N, Meneguzzi G, El Hachem M, Angelo C, Gobello T, Tadini G, Zambruno G, Castiglia D. Posteraro P, et al. Among authors: meneguzzi g. J Invest Dermatol. 2004 Oct;123(4):639-48. doi: 10.1111/j.0022-202X.2004.23302.x. J Invest Dermatol. 2004. PMID: 15373767 Free article.

2

Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.

D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G. D'Alessio M, et al. Among authors: meneguzzi g. J Invest Dermatol. 2008 Dec;128(12):2815-9. doi: 10.1038/jid.2008.143. Epub 2008 Jun 19. J Invest Dermatol. 2008. PMID: 18563182 Free article.

3

Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.

Posteraro P, Sorvillo S, Gagnoux-Palacios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G. Posteraro P, et al. Among authors: meneguzzi g. Biochem Biophys Res Commun. 1998 Feb 24;243(3):758-64. doi: 10.1006/bbrc.1998.8180. Biochem Biophys Res Commun. 1998. PMID: 9501007

4

180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype.

Mazzanti C, Gobello T, Posteraro P, Paradisi M, Meneguzzi G, Chinni L, Zambruno G. Mazzanti C, et al. Among authors: meneguzzi g. Br J Dermatol. 1998 May;138(5):859-66. doi: 10.1046/j.1365-2133.1998.02226.x. Br J Dermatol. 1998. PMID: 9666835

5

A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.

Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, Owaribe K, Meneguzzi G, Zambruno G, Castiglia D, D'Alessio M. Ruzzi L, et al. Among authors: meneguzzi g. J Invest Dermatol. 2001 Jan;116(1):182-7. doi: 10.1046/j.1523-1747.2001.00229.x. J Invest Dermatol. 2001. PMID: 11168815 Free article.

6

Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.

Castiglia D, Posteraro P, Spirito F, Pinola M, Angelo C, Puddu P, Meneguzzi G, Zambruno G. Castiglia D, et al. Among authors: meneguzzi g. J Invest Dermatol. 2001 Sep;117(3):731-9. doi: 10.1046/j.0022-202x.2001.01453.x. J Invest Dermatol. 2001. PMID: 11564184 Free article.

7

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G. Ruzzi L, et al. Among authors: meneguzzi g. J Clin Invest. 1997 Jun 15;99(12):2826-31. doi: 10.1172/JCI119474. J Clin Invest. 1997. PMID: 9185503 Free PMC article.

8

Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.

Dellambra E, Vailly J, Pellegrini G, Bondanza S, Golisano O, Macchia C, Zambruno G, Meneguzzi G, De Luca M. Dellambra E, et al. Among authors: meneguzzi g. Hum Gene Ther. 1998 Jun 10;9(9):1359-70. doi: 10.1089/hum.1998.9.9-1359. Hum Gene Ther. 1998. PMID: 9650620

9

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Among authors: meneguzzi g. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583

10

A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.

Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. Chavanas S, et al. Among authors: meneguzzi g. J Invest Dermatol. 1997 Jul;109(1):74-8. doi: 10.1111/1523-1747.ep12276614. J Invest Dermatol. 1997. PMID: 9204958 Free article.

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