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Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.
Fewings E, Ziemer M, Hörtnagel K, Reicherter K, Larionov A, Redman J, Goldgraben MA, Pepler A, Hearn T, Firth H, Ha T, Schaller J, Adams DJ, Rytina E, van Steensel M, Tischkowitz M. Fewings E, et al. Among authors: hortnagel k. J Invest Dermatol. 2019 Oct;139(10):2238-2241.e6. doi: 10.1016/j.jid.2019.03.1151. Epub 2019 May 22. J Invest Dermatol. 2019. PMID: 31125547 Free article. No abstract available.
Monogenic human skin disorders.
Lemke JR, Kernland-Lang K, Hörtnagel K, Itin P. Lemke JR, et al. Among authors: hortnagel k. Dermatology. 2014;229(2):55-64. doi: 10.1159/000362200. Epub 2014 Jul 8. Dermatology. 2014. PMID: 25012694 Free article. Review.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: hortnagel k. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
53 results