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Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Cesarato N, Schwieger-Briel A, Gossmann Y, Henne SK, Hillmann K, Frommherz LH, Wehner M, Xiong X, Thiele H, Oji V, Milani D, Tantcheva-Poor I, Giehl K, Fölster-Holst R, Teichler A, Braeckmans D, Hoeger PH, Jones G, Frank J, Weibel L, Blume-Peytavi U, Hamm H, Nöthen MM, Geyer M, Heilmann-Heimbach S, Basmanav FB, Betz RC. Cesarato N, et al. Among authors: tantcheva poor i. Br J Dermatol. 2023 Nov 16;189(6):741-749. doi: 10.1093/bjd/ljad314. Br J Dermatol. 2023. PMID: 37671665
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. 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. 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.
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. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
[Viral exanthems in children].
Fromme JE, Tantcheva-Poór I, Fölster-Holst R. Fromme JE, et al. Hautarzt. 2022 Jun;73(6):452-460. doi: 10.1007/s00105-022-05000-w. Epub 2022 May 25. Hautarzt. 2022. PMID: 35612655 Free PMC article. Review. German.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Basmanav FB, et al. Among authors: tantcheva poor i. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
Epidemiology of inherited epidermolysis bullosa in Germany.
Has C, Hess M, Anemüller W, Blume-Peytavi U, Emmert S, Fölster-Holst R, Frank J, Giehl K, Günther C, Hammersen J, Hillmann K, Höflein B, Hoeger PH, Hotz A, Mai TA, Oji V, Schneider H, Süßmuth K, Tantcheva-Póor I, Thielking F, Zirn B, Fischer J, Reimer-Taschenbrecker A. Has C, et al. Among authors: tantcheva poor i. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):402-410. doi: 10.1111/jdv.18637. Epub 2022 Nov 1. J Eur Acad Dermatol Venereol. 2023. PMID: 36196047
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Among authors: tantcheva poor i. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
61 results