Korge B - Search Results

1

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Ringpfeil F, et al. Among authors: korge b. Exp Dermatol. 2001 Feb;10(1):19-27. doi: 10.1034/j.1600-0625.2001.100103.x. Exp Dermatol. 2001. PMID: 11168576

2

Fine mapping of the Darier's disease locus on chromosome 12q.

Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, Tanaka T, Harth W, McBride OW, Compton JG, Bale SJ, DiGiovanna JJ. Richard G, et al. Among authors: korge b. J Invest Dermatol. 1994 Nov;103(5):665-8. doi: 10.1111/1523-1747.ep12398429. J Invest Dermatol. 1994. PMID: 7963653 Free article.

3

Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24.

Richard G, Korge BP, Wright AR, Mazzanti C, Harth W, Annicchiarico-Petruzzelli M, Compton JG, Bale SJ. Richard G, et al. Among authors: korge bp. J Invest Dermatol. 1995 Sep;105(3):357-60. doi: 10.1111/1523-1747.ep12320741. J Invest Dermatol. 1995. PMID: 7665912 Free article.

4

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM. Chipev CC, et al. Among authors: korge bp. Cell. 1992 Sep 4;70(5):821-8. doi: 10.1016/0092-8674(92)90315-4. Cell. 1992. PMID: 1381288

5

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.

Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, Korge BP, McBride OW, Steinert PM, Bale SJ. Compton JG, et al. Among authors: korge bp. Nat Genet. 1992 Jul;1(4):301-5. doi: 10.1038/ng0792-301. Nat Genet. 1992. PMID: 1284546

6

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS. Korge BP, et al. J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x. J Invest Dermatol. 1999. PMID: 10504448 Free article.

7

Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.

Korge BP, Healy E, Traupe H, Pünter C, Mauch C, Hamm H, Birch-Machin MA, Belgaid CE, Stephenson AM, Holmes SC, Darlington S, Messenger AG, Rees JL, Munro CS. Korge BP, et al. Exp Dermatol. 1999 Aug;8(4):310-2. Exp Dermatol. 1999. PMID: 10439241 No abstract available.

8

The cornified cell envelope: loricrin and transglutaminases.

Yoneda K, McBride OW, Korge BP, Kim IG, Steinert PM. Yoneda K, et al. Among authors: korge bp. J Dermatol. 1992 Nov;19(11):761-4. doi: 10.1111/j.1346-8138.1992.tb03776.x. J Dermatol. 1992. PMID: 1363428

9

A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay.

Müller FB, Tsianakas A, Kuwert C, Korge BP, Hunzelmann N. Müller FB, et al. Among authors: korge bp. Br J Dermatol. 2005 May;152(5):1030-2. doi: 10.1111/j.1365-2133.2005.06483.x. Br J Dermatol. 2005. PMID: 15888165

10

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ. Müller FB, et al. Among authors: korge bp. Hum Mutat. 2006 Jul;27(7):719-20. doi: 10.1002/humu.9437. Hum Mutat. 2006. PMID: 16786515

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