Castiglia D - Search Results

1

Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma.

Castiglia D, Pagani E, Alvino E, Vernole P, Marra G, Cannavò E, Jiricny J, Zambruno G, D'Atri S. Castiglia D, et al. Among authors: d atri s. Genes Chromosomes Cancer. 2003 Jun;37(2):165-75. doi: 10.1002/gcc.10193. Genes Chromosomes Cancer. 2003. PMID: 12696065

2

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: castiglia d. Biochem Biophys Res Commun. 1998 Feb 24;243(3):758-64. doi: 10.1006/bbrc.1998.8180. Biochem Biophys Res Commun. 1998. PMID: 9501007

3

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D. Terracina M, et al. Among authors: castiglia d. J Invest Dermatol. 1998 Nov;111(5):744-50. doi: 10.1046/j.1523-1747.1998.00397.x. J Invest Dermatol. 1998. PMID: 9804332 Free article.

4

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: castiglia d, d alessio m. 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.

5

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. 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.

6

High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma.

Alvino E, Marra G, Pagani E, Falcinelli S, Pepponi R, Perrera C, Haider R, Castiglia D, Ferranti G, Bonmassar E, Jiricny J, Zambruno G, D'Atri S. Alvino E, et al. Among authors: d atri s, castiglia d. J Invest Dermatol. 2002 Jan;118(1):79-86. doi: 10.1046/j.0022-202x.2001.01611.x. J Invest Dermatol. 2002. PMID: 11851879 Free article.

7

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. Among authors: castiglia d. 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.

8

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.

Scaturro M, Posteraro P, Mastrogiacomo A, Zaccaria ML, De Luca N, Mazzanti C, Zambruno G, Castiglia D. Scaturro M, et al. Among authors: castiglia d. Biochem Biophys Res Commun. 2003 Sep 12;309(1):96-103. doi: 10.1016/s0006-291x(03)01533-x. Biochem Biophys Res Commun. 2003. PMID: 12943669

9

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: castiglia d. 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.

10

Analysis of candidate genes through a proteomics-based approach in primary cell lines from malignant melanomas and their metastases.

Carta F, Demuro PP, Zanini C, Santona A, Castiglia D, D'Atri S, Ascierto PA, Napolitano M, Cossu A, Tadolini B, Turrini F, Manca A, Sini MC, Palmieri G, Rozzo AC; Italian Melanoma Intergroup. Carta F, et al. Among authors: d atri s, castiglia d. Melanoma Res. 2005 Aug;15(4):235-44. doi: 10.1097/00008390-200508000-00002. Melanoma Res. 2005. PMID: 16034300

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