Bauer JW - Search Results

1

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. Cho RJ, et al. Among authors: bauer jw. Sci Transl Med. 2018 Aug 22;10(455):eaas9668. doi: 10.1126/scitranslmed.aas9668. Sci Transl Med. 2018. PMID: 30135250

2

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.

Darling TN, Yee C, Koh B, McGrath JA, Bauer JW, Uitto J, Hintner H, Yancey KB. Darling TN, et al. Among authors: bauer jw. J Invest Dermatol. 1998 Feb;110(2):165-9. doi: 10.1046/j.1523-1747.1998.00103.x. J Invest Dermatol. 1998. PMID: 9457913 Free article.

3

Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

Rouan F, Pulkkinen L, Jonkman MF, Bauer JW, Cserhalmi-Friedman PB, Christiano AM, Uitto J. Rouan F, et al. Among authors: bauer jw. J Invest Dermatol. 1998 Dec;111(6):1210-3. doi: 10.1046/j.1523-1747.1998.00422.x. J Invest Dermatol. 1998. PMID: 9856843 Free article.

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

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

6

Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.

Kivisaari AK, Kallajoki M, Mirtti T, McGrath JA, Bauer JW, Weber F, Königová R, Sawamura D, Sato-Matsumura KC, Shimizu H, Csikós M, Sinemus K, Beckert W, Kähäri VM. Kivisaari AK, et al. Among authors: bauer jw. Br J Dermatol. 2008 Apr;158(4):778-85. doi: 10.1111/j.1365-2133.2008.08466.x. Epub 2008 Feb 16. Br J Dermatol. 2008. PMID: 18284387

7

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. Fine JD, et al. Among authors: bauer jw, bauer ea. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18. J Am Acad Dermatol. 2008. PMID: 18374450

8

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H. Riedl E, et al. Among authors: bauer jw. Pediatr Dermatol. 2009 Jan-Feb;26(1):115-7. doi: 10.1111/j.1525-1470.2008.00846.x. Pediatr Dermatol. 2009. PMID: 19250433

9

Herlitz junctional epidermolysis bullosa.

Laimer M, Lanschuetzer CM, Diem A, Bauer JW. Laimer M, et al. Among authors: bauer jw. Dermatol Clin. 2010 Jan;28(1):55-60. doi: 10.1016/j.det.2009.10.006. Dermatol Clin. 2010. PMID: 19945616 Review.

10

Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.

Kivisaari AK, Kallajoki M, Ala-aho R, McGrath JA, Bauer JW, Königová R, Medvecz M, Beckert W, Grénman R, Kähäri VM. Kivisaari AK, et al. Among authors: bauer jw. Br J Dermatol. 2010 Oct;163(4):726-35. doi: 10.1111/j.1365-2133.2010.09924.x. Epub 2010 Sep 2. Br J Dermatol. 2010. PMID: 20586780

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