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All publications related to disease Epidermolysis bullosa simplex with mottled pigmentation. To link directly to a specific first author surname click on the required letter below.
HIMPSUY H Hamada T, Ishii N, Kawano Y, Takahashi Y, Inoue M, Yasumoto S, Hashimoto T
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
Br J Dermatol 2004 150(3) 609-611 PubMed: 15030360 Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Arch Dermatol Res 2005 296(12) 577-579 PubMed: 15827748 Harel A, Bergman R, Indelman M, Sprecher E
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
J Invest Dermatol 2006 126(7) 1654-1657 PubMed: 16601668 Horiguchi Y, Sawamura D, Mori R, Nakamura H, Takahashi K, Shimizu H
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
J Invest Dermatol 2005 125(1) 83-85 PubMed: 15982306 Back to index I Irvine AD, McKenna KE, Jenkinson H, Hughes AE
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
J Invest Dermatol 1997 108(5) 809-810 PubMed: 9129237 Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.
Br J Dermatol 2001 144(1) 40-45 PubMed: 11167681 Back to index M Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
Am J Med Genet 1999 86(4) 376-379 PubMed: 10494094 Back to index P Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
Eur J Dermatol 2006 16(6) 620-622 PubMed: 17229601 Pfendner EG, Sadowski SG, Uitto J
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
J Invest Dermatol 2005 125(2) 239-243 PubMed: 16098032 Back to index S Shurman D, Losi-Sasaki J, Grimwood R, Kivirikko S, Tichy E, Uitto J, Richard G
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.
Eur J Dermatol 2006 16(2) 132-135 PubMed: 16581562 Back to index U Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T, Fine JD, Fuchs E
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Proc Natl Acad Sci U S A 1996 93(17) 9079-9084 PubMed: 8799157 Back to index Y Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Br J Dermatol 2006 155(2) 313-317 PubMed: 16882168 Back to index This page was last modified: April 17 2009 14:28:35. |
