Pohla-Gubo G - Search Results

1

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. Hum Genet. 2004 Jul;115(2):171. Hum Genet. 2004. PMID: 15300974 No abstract available.

2

Epidermolysis bullosa care in Austria and the Epidermolysis Bullosa House Austria.

Pohla-Gubo G, Hintner H. Pohla-Gubo G, et al. Dermatol Clin. 2010 Apr;28(2):415-20, xv. doi: 10.1016/j.det.2010.02.008. Dermatol Clin. 2010. PMID: 20447517 Review.

3

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

4

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.

5

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. Clin Exp Dermatol. 2003 Jan;28(1):77-9. doi: 10.1046/j.1365-2230.2003.01218.x. Clin Exp Dermatol. 2003. PMID: 12558637

6

Gene symbol: Kind1. Disease: kindler syndrome.

Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H. Lanschuetzer CM, et al. Hum Genet. 2004 Jul;115(2):175. Hum Genet. 2004. PMID: 15300990 No abstract available.

7

Immunofluorescence mapping for the diagnosis of epidermolysis bullosa.

Pohla-Gubo G, Cepeda-Valdes R, Hintner H. Pohla-Gubo G, et al. Dermatol Clin. 2010 Apr;28(2):201-10, vii. doi: 10.1016/j.det.2009.12.005. Dermatol Clin. 2010. PMID: 20447482 Review.

8

Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa.

Kleewein K, Lang R, Diem A, Vogel T, Pohla-Gubo G, Bauer JW, Hintner H, Laimer M. Kleewein K, et al. Among authors: pohla gubo g. Pediatr Dermatol. 2011 Nov-Dec;28(6):720-725. doi: 10.1111/j.1525-1470.2011.01479.x. Epub 2011 Aug 19. Pediatr Dermatol. 2011. PMID: 21854415

9

Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease.

Laimer M, Pohla-Gubo G, Diem A, Prodinger C, Bauer JW, Hintner H. Laimer M, et al. Among authors: pohla gubo g. Wien Klin Wochenschr. 2017 Jan;129(1-2):1-7. doi: 10.1007/s00508-016-1133-3. Epub 2016 Dec 1. Wien Klin Wochenschr. 2017. PMID: 27909793 Free PMC article.

10

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.

McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey K, Uitto J. McGrath JA, et al. J Invest Dermatol. 1996 Apr;106(4):771-4. doi: 10.1111/1523-1747.ep12345821. J Invest Dermatol. 1996. PMID: 8618019 Free article.

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