Bruckner-Tuderman L - Search Results

1

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.

Kiritsi D, Nanda A, Kohlhase J, Bernhard C, Bruckner-Tuderman L, Happle R, Has C. Kiritsi D, et al. Acta Derm Venereol. 2014 May;94(3):346-8. doi: 10.2340/00015555-1695. Acta Derm Venereol. 2014. PMID: 24096702 Free article. No abstract available.

2

Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

Kiritsi D, Huilaja L, Franzke CW, Kokkonen N, Pazzagli C, Schwieger-Briel A, Larmas M, Bruckner-Tuderman L, Has C, Tasanen K. Kiritsi D, et al. Acta Derm Venereol. 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073. Acta Derm Venereol. 2015. PMID: 25708563 Free article. No abstract available.

3

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. J Invest Dermatol. 2006 May;126(5):1006-12. doi: 10.1038/sj.jid.5700219. J Invest Dermatol. 2006. PMID: 16484981 Free article.

4

Molecular and diagnostic aspects of genetic skin fragility.

Has C, Bruckner-Tuderman L. Has C, et al. J Dermatol Sci. 2006 Dec;44(3):129-44. doi: 10.1016/j.jdermsci.2006.08.003. Epub 2006 Sep 22. J Dermatol Sci. 2006. PMID: 16996720 Review.

5

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L. Kiritsi D, et al. J Med Genet. 2011 Jul;48(7):450-7. doi: 10.1136/jmg.2010.086751. Epub 2011 Feb 28. J Med Genet. 2011. PMID: 21357940 Free article.

6

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

Arnold AW, Kiritsi D, Happle R, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C, Itin PH. Arnold AW, et al. J Invest Dermatol. 2012 Aug;132(8):2100-3. doi: 10.1038/jid.2012.72. Epub 2012 Mar 22. J Invest Dermatol. 2012. PMID: 22437315 Free article. No abstract available.

7

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, Bruckner-Tuderman L, Has C. Kiritsi D, et al. J Clin Invest. 2012 May;122(5):1742-6. doi: 10.1172/JCI61976. Epub 2012 Apr 2. J Clin Invest. 2012. PMID: 22466645 Free PMC article.

8

Laminin 332 in junctional epidermolysis bullosa.

Kiritsi D, Has C, Bruckner-Tuderman L. Kiritsi D, et al. Cell Adh Migr. 2013 Jan-Feb;7(1):135-41. doi: 10.4161/cam.22418. Epub 2012 Oct 17. Cell Adh Migr. 2013. PMID: 23076207 Free PMC article. Review.

9

Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.

Bruckner-Tuderman L, Has C. Bruckner-Tuderman L, et al. J Invest Dermatol. 2012 Nov 15;132(E1):E2-5. doi: 10.1038/skinbio.2012.2. J Invest Dermatol. 2012. PMID: 23154626 Free article. Review. No abstract available.

10

Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.

Bruckner-Tuderman L, Has C. Bruckner-Tuderman L, et al. Matrix Biol. 2014 Jan;33:29-34. doi: 10.1016/j.matbio.2013.07.007. Epub 2013 Aug 3. Matrix Biol. 2014. PMID: 23917088 Free article. Review.

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