Rouan F[Author] - Search Results

Year	Number of Results
1998	2
1999	2
2000	2
2001	2
2002	2
2003	2
2004	2
2005	2
2007	1
2024	0

1

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.

2

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

3

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Richard G, et al. Among authors: rouan f. Am J Hum Genet. 2002 May;70(5):1341-8. doi: 10.1086/339986. Epub 2002 Mar 22. Am J Hum Genet. 2002. PMID: 11912510 Free PMC article.

4

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

5

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RA, Shimizu H. McMillan JR, et al. Among authors: rouan f. Muscle Nerve. 2007 Jan;35(1):24-35. doi: 10.1002/mus.20655. Muscle Nerve. 2007. PMID: 16967486

6

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G. Rouan F, et al. J Cell Sci. 2001 Jun;114(Pt 11):2105-13. doi: 10.1242/jcs.114.11.2105. J Cell Sci. 2001. PMID: 11493646

7

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.

8

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.

9

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.

10

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Richard G, et al. Among authors: rouan f. J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. J Invest Dermatol. 2003. PMID: 12648223 Free article.

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