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106 results

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Page 1
Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.
Komlosi K, Glocker C, Hsu-Rehder HH, Alter S, Kopp J, Hotz A, Zimmer AD, Hausser-Siller I, Sandhoff R, Oji V, Fischer J. Komlosi K, et al. Among authors: oji v. J Invest Dermatol. 2024 Apr 18:S0022-202X(24)00303-8. doi: 10.1016/j.jid.2024.03.041. Online ahead of print. J Invest Dermatol. 2024. PMID: 38642798 Free article.
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z; BSTOP study group; Estonian Biobank research team; Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT. Dand N, et al. Among authors: oji v. medRxiv [Preprint]. 2023 Oct 5:2023.10.04.23296543. doi: 10.1101/2023.10.04.23296543. medRxiv. 2023. PMID: 37873414 Free PMC article. Preprint.
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: oji v. Br J Dermatol. 2023 Nov 16;189(6):741-749. doi: 10.1093/bjd/ljad314. Br J Dermatol. 2023. PMID: 37671665
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S, Borisov O, Maj C, Ralser DJ, Humbatova A, Hanneken S, Schmieder A, Groß J, Maintz L, Heineke A, Knuever J, Fagerberg C, Parmentier L, Anemüller W, Oji V, Tantcheva-Poór I, Fölster-Holst R, Wenzel J, Krawitz PM, Frank J, Betz RC. Kumar S, et al. Among authors: oji v. J Invest Dermatol. 2024 Jan;144(1):181-184. doi: 10.1016/j.jid.2023.04.036. Epub 2023 Jul 17. J Invest Dermatol. 2024. PMID: 37468035 No abstract available.
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: oji v. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 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: oji v. 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
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: oji v. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
106 results