Bauer JW - Search Results

1

Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa.

Medek K, Klausegger A, Ude-Schoder K, Prodinger C, Breitenbach-Koller H, Bauer JW, Laimer M. Medek K, et al. Among authors: bauer jw. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):e631-e634. doi: 10.1111/jdv.18091. Epub 2022 Mar 31. J Eur Acad Dermatol Venereol. 2022. PMID: 35305048 No abstract available.

2

Ocular involvement in IgA-epidermolysis bullosa acquisita.

Bauer JW, Schaeppi H, Metze D, Muss W, Pohla-Gubo G, Hametner R, Ruckhofer J, Grabner G, Hintner H. Bauer JW, et al. Br J Dermatol. 1999 Nov;141(5):887-92. doi: 10.1046/j.1365-2133.1999.03163.x. Br J Dermatol. 1999. PMID: 10583173

3

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.

4

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.

5

Large melanocytic nevi in hereditary epidermolysis bullosa.

Bauer JW, Schaeppi H, Kaserer C, Hantich B, Hintner H. Bauer JW, et al. J Am Acad Dermatol. 2001 Apr;44(4):577-84. doi: 10.1067/mjd.2001.112217. J Am Acad Dermatol. 2001. PMID: 11260529

6

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.

7

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.

8

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

9

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

10

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

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