Lanschuetzer C - Search Results

1

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H. Sadler E, et al. Among authors: lanschuetzer c. Arch Dermatol. 2006 Dec;142(12):1619-24. doi: 10.1001/archderm.142.12.1619. Arch Dermatol. 2006. PMID: 17178989

2

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

3

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. J Cutan Pathol. 2003 Oct;30(9):553-60. doi: 10.1034/j.1600-0560.2003.00119.x. J Cutan Pathol. 2003. PMID: 14507403

4

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.

5

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

Bauer JW, Lanschuetzer C. Bauer JW, et al. Among authors: lanschuetzer c. 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

Epidermolysis bullosa nevi.

Lanschuetzer CM, Laimer M, Nischler E, Hintner H. Lanschuetzer CM, et al. Dermatol Clin. 2010 Jan;28(1):179-83. doi: 10.1016/j.det.2009.10.024. Dermatol Clin. 2010. PMID: 19945633 Review.

7

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. Acta Derm Venereol. 2003;83(5):332-7. doi: 10.1080/00015550310012674. Acta Derm Venereol. 2003. PMID: 14609098 Free article.

8

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay.

Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Pohla-Gubo G, Lanschuetzer CM, Laimer M, Hintner H, Bauer JW. Buchroithner B, et al. Lab Invest. 2004 Oct;84(10):1279-88. doi: 10.1038/labinvest.3700164. Lab Invest. 2004. PMID: 15311214 Free article.

9

Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.

Laimer M, Klausegger A, Aberer W, Oender K, Steinhuber M, Lanschuetzer CM, Wally V, Hintner H, Bauer JW. Laimer M, et al. Genet Med. 2006 Apr;8(4):249-54. doi: 10.1097/01.gim.0000214302.90076.fa. Genet Med. 2006. PMID: 16617246 Free article.

10

Symmetrical reddish swelling of the eyebrows in a 12-year-old girl.

Emberger M, Laimer M, Lanschuetzer CM, Selhofer S, Cerroni L. Emberger M, et al. Among authors: lanschuetzer cm. Arch Dermatol. 2008 May;144(5):673-8. doi: 10.1001/archderm.144.5.673-c. Arch Dermatol. 2008. PMID: 18490599 No abstract available.

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