Rouan F - Search Results

1

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

Kunz M, Rouan F, Pulkkinen L, Hamm H, Jeschke R, Bruckner-Tuderman L, Bröcker EB, Wiche G, Uitto J, Zillikens D. Kunz M, et al. Among authors: rouan f. J Invest Dermatol. 2000 Feb;114(2):376-80. doi: 10.1046/j.1523-1747.2000.00856.x. J Invest Dermatol. 2000. PMID: 10652001 Free article.

2

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.

Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R. Schara U, et al. Among authors: rouan f. Eur J Pediatr. 2004 Apr;163(4-5):218-22. doi: 10.1007/s00431-004-1410-4. Epub 2004 Feb 13. Eur J Pediatr. 2004. PMID: 14963703

3

Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

Rouan F, Pulkkinen L, Jonkman MF, Bauer JW, Cserhalmi-Friedman PB, Christiano AM, Uitto J. Rouan F, et al. J Invest Dermatol. 1998 Dec;111(6):1210-3. doi: 10.1046/j.1523-1747.1998.00422.x. J Invest Dermatol. 1998. PMID: 9856843 Free article.

4

Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.

Takizawa Y, Shimizu H, Rouan F, Kawai M, Udono M, Pulkkinen L, Nishikawa T, Uitto J. Takizawa Y, et al. Among authors: rouan f. J Invest Dermatol. 1999 Jan;112(1):109-12. doi: 10.1046/j.1523-1747.1999.00461.x. J Invest Dermatol. 1999. PMID: 9886273 Free article.

5

Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

Jonkman MF, Moreno G, Rouan F, Oranje AP, Pulkkinen L, Uitto J. Jonkman MF, et al. Among authors: rouan f. J Invest Dermatol. 1999 May;112(5):815-7. doi: 10.1046/j.1523-1747.1999.00568.x. J Invest Dermatol. 1999. PMID: 10233777 Free article.

6

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J. Rouan F, et al. J Invest Dermatol. 2000 Feb;114(2):381-7. doi: 10.1046/j.1523-1747.2000.00880.x. J Invest Dermatol. 2000. PMID: 10652002 Free article.

7

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Pfendner E, Rouan F, Uitto J. Pfendner E, et al. Among authors: rouan f. Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. Exp Dermatol. 2005. PMID: 15810881 Review.

8

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.

Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Schröder R, et al. Among authors: rouan f. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. doi: 10.1093/jnen/61.6.520. J Neuropathol Exp Neurol. 2002. PMID: 12071635

9

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.

Takahashi Y, Rouan F, Uitto J, Ishida-Yamamoto A, Iizuka H, Owaribe K, Tanigawa M, Ishii N, Yasumoto S, Hashimoto T. Takahashi Y, et al. Among authors: rouan f. J Dermatol Sci. 2005 Feb;37(2):87-93. doi: 10.1016/j.jdermsci.2004.11.003. Epub 2004 Dec 22. J Dermatol Sci. 2005. PMID: 15659326

10

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J. Pulkkinen L, et al. Among authors: rouan f. Am J Hum Genet. 1998 Nov;63(5):1376-87. doi: 10.1086/302116. Am J Hum Genet. 1998. PMID: 9792864 Free PMC article.

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