Bauer JW - Search Results

1

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.

Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petković I, Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder HM, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T, Kocher T, Koller U. Bischof J, et al. Among authors: bauer jw. Mol Ther. 2022 Aug 3;30(8):2680-2692. doi: 10.1016/j.ymthe.2022.04.020. Epub 2022 Apr 30. Mol Ther. 2022. PMID: 35490295 Free PMC article.

2

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

Bauer JW, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W, Hametner R, Klausegger A, Huber A, Pohla-Gubo G, Wiche G, Uitto J, Hintner H. Bauer JW, et al. Am J Pathol. 2001 Feb;158(2):617-25. doi: 10.1016/S0002-9440(10)64003-5. Am J Pathol. 2001. PMID: 11159198 Free PMC article.

3

Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?

Klausegger A, Pulkkinen L, Pohla-Gubo G, Dallinger G, Puttinger R, Uitto J, Hintner H, Bauer JW. Klausegger A, et al. Among authors: bauer jw. J Invest Dermatol. 2001 Mar;116(3):474-5. doi: 10.1046/j.1523-1747.2001.12793.x. J Invest Dermatol. 2001. PMID: 11231327 Free article. No abstract available.

4

Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa.

Weber F, Bauer JW, Sepp N, Högler W, Salmhofer W, Hintner H, Fritsch P. Weber F, et al. Among authors: bauer jw. Acta Derm Venereol. 2001 Jun-Jul;81(3):189-92. doi: 10.1080/000155501750376285. Acta Derm Venereol. 2001. PMID: 11558875 Free article.

5

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.

Bauer JW, Lanschuetzer C. Bauer JW, et al. Clin Exp Dermatol. 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x. Clin Exp Dermatol. 2003. PMID: 12558632 Review.

6

A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.

Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Clin Exp Dermatol. 2003 Jan;28(1):77-9. doi: 10.1046/j.1365-2230.2003.01218.x. Clin Exp Dermatol. 2003. PMID: 12558637

7

Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases.

Dallinger G, Puttaraju M, Mitchell LG, Yancey KB, Yee C, Klausegger A, Hintner H, Bauer JW. Dallinger G, et al. Among authors: bauer jw. Exp Dermatol. 2003 Feb;12(1):37-46. doi: 10.1034/j.1600-0625.2003.120105.x. Exp Dermatol. 2003. PMID: 12631245

8

Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.

Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H. Lanschuetzer CM, et al. Among authors: bauer jw. J Cutan Pathol. 2003 Oct;30(9):553-60. doi: 10.1034/j.1600-0560.2003.00119.x. J Cutan Pathol. 2003. PMID: 14507403

9

Pathogenic mechanisms in epidermolysis bullosa naevi.

Lanschuetzer CM, Emberger M, Hametner R, Klausegger A, Pohla-Gubo G, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Acta Derm Venereol. 2003;83(5):332-7. doi: 10.1080/00015550310012674. Acta Derm Venereol. 2003. PMID: 14609098 Free article.

10

Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.

Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. Lanschuetzer CM, et al. Among authors: bauer jw. Hum Genet. 2004 Jul;115(2):171. Hum Genet. 2004. PMID: 15300974 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

226 results

Search Page