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Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.
Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E. Higgins R, et al. Among authors: schwieger briel ae. Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313. Acta Derm Venereol. 2020. PMID: 31502654 Free PMC article. No abstract available.
Grey spots in a patient with dystrophic epidermolysis bullosa.
Schwieger-Briel A, Kiritsi D, Schumann H, Meiss F, Technau K, Bruckner-Tuderman L. Schwieger-Briel A, et al. Br J Dermatol. 2010 Nov;163(5):1124-6. doi: 10.1111/j.1365-2133.2010.09900.x. Br J Dermatol. 2010. PMID: 20545677 No abstract available.
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C. Pigors M, et al. J Invest Dermatol. 2012 Oct;132(10):2422-2429. doi: 10.1038/jid.2012.166. Epub 2012 May 24. J Invest Dermatol. 2012. PMID: 22622422 Free article.
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.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
48 results