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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Among authors: betz rc. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y. Lin Z, et al. Among authors: betz rc. Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi: 10.1016/j.ajhg.2012.08.029. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063621 Free PMC article.
[Monilethrix is a hereditary hair shaft disorder].
Kirkegaard AO, Betz RC, Bygum A. Kirkegaard AO, et al. Among authors: betz rc. Ugeskr Laeger. 2017 Sep 11;179(37):V05170417. Ugeskr Laeger. 2017. PMID: 28918778 Free article. Danish.
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Basmanav FBÜ, Wolf S, Thiele H, Altmüller J, Nürnberg P, Oji V, Fritz G, Frank J, Betz RC. Ralser DJ, et al. Among authors: betz rc. Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29. Br J Dermatol. 2017. PMID: 29192958 No abstract available.
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Ralser DJ, Takeuchi H, Fritz G, Basmanav FB, Effern M, Sivalingam S, El-Shabrawi-Caelen L, Degirmentepe EN, Kocatürk E, Singh M, Booken N, Spierings NMK, Schnabel V, Heineke A, Knuever J, Wolf S, Wehner M, Tronnier M, Leverkus M, Tantcheva-Poór I, Wenzel J, Oji V, Has C, Hölzel M, Frank J, Haltiwanger RS, Betz RC. Ralser DJ, et al. Among authors: betz rc. J Invest Dermatol. 2019 Apr;139(4):960-964. doi: 10.1016/j.jid.2018.10.030. Epub 2018 Nov 9. J Invest Dermatol. 2019. PMID: 30414910 Free PMC article. No abstract available.
Mast cell activation in Dowling-Degos disease.
Knuever J, Persa OD, Illerhaus A, Ralser DJ, Hartmann K, Betz RC, Tantcheva-Poór I. Knuever J, et al. Among authors: betz rc. Br J Dermatol. 2019 Dec;181(6):1312-1314. doi: 10.1111/bjd.18221. Epub 2019 Aug 22. Br J Dermatol. 2019. PMID: 31206596 No abstract available.
187 results