Paradisi M - Search Results

1

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Hamada T, et al. Among authors: paradisi m. J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x. J Invest Dermatol. 2003. PMID: 12603844 Free article.

2

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: paradisi m. 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.

3

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A. Bitoun E, et al. Among authors: paradisi m. J Invest Dermatol. 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. J Invest Dermatol. 2002. PMID: 11841556 Free article.

4

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Terrinoni A, et al. Among authors: paradisi m. J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x. J Invest Dermatol. 2001. PMID: 11886499 Free article.

5

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.

Christiano AM, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J. Christiano AM, et al. Among authors: paradisi m. J Invest Dermatol. 1996 Apr;106(4):679-84. doi: 10.1111/1523-1747.ep12345508. J Invest Dermatol. 1996. PMID: 8618004 Free article.

6

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J. Christiano AM, et al. Among authors: paradisi m. J Invest Dermatol. 1995 Mar;104(3):438-40. doi: 10.1111/1523-1747.ep12666033. J Invest Dermatol. 1995. PMID: 7861014 Free article.

7

Lipoid proteinosis: clinical, histologic, and ultrastructural investigations.

Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, Faraggiana T. Muda AO, et al. Among authors: paradisi m. Cutis. 1995 Oct;56(4):220-4. Cutis. 1995. PMID: 8575221

8

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A. Lacroix M, et al. Among authors: paradisi m. J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. Epub 2011 Nov 17. J Invest Dermatol. 2012. PMID: 22089833 Free article.

9

Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.

Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D. Pascucci M, et al. Among authors: paradisi m. Eur J Dermatol. 2006 Nov-Dec;16(6):620-2. Eur J Dermatol. 2006. PMID: 17229601

10

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

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