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Ein neues Forum für seltene Hauterkrankungen.
Emmert S, Iben S, Fischer J, Komlosi K, Betz RC, Frank J J, Has C. Emmert S, et al. Among authors: komlosi k. J Dtsch Dermatol Ges. 2019 Jun;17(6):672-673. doi: 10.1111/ddg.13863. J Dtsch Dermatol Ges. 2019. PMID: 31241841 No abstract available.
A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.
Valette C, Jonca N, Fischer J, Pernin-Grandjean J, Granier Tournier C, Diociaiuti A, Neri I, Dreyfus I, Furman M, Giehl K, Wollenberg A, Mallet S, Martin L, Martin-Santiago A, Onnis G, Broue P, Leclerc-Mercier S, Schmuth M, Sprecher E, Gruber R, Suessmuth K, Bourrat E, Komlosi K, Hill S, O'Toole EA, Schischmanoff O, Caux F, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group and of the ‘ERN-Skin Network’. Valette C, et al. Among authors: komlosi k. J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1237-e1241. doi: 10.1111/jdv.19235. Epub 2023 Jun 20. J Eur Acad Dermatol Venereol. 2023. PMID: 37257069 No abstract available.
Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome.
Göbel T, Maier A, Schlump A, Runge K, Nickel K, Tebartz van Elst L, Schiele MA, Domschke K, Gläser B, Tzschach A, Komlosi K, Endres D. Göbel T, et al. Among authors: komlosi k. Eur Neuropsychopharmacol. 2024 Jan;78:67-69. doi: 10.1016/j.euroneuro.2023.09.009. Epub 2023 Dec 1. Eur Neuropsychopharmacol. 2024. PMID: 38041926 No abstract available.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, … See abstract for full author list ➔ Lesmann H, et al. Among authors: komlosi k. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
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: komlosi k. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Frommherz L, Komlosi K, Hewel C, Kopp J, Dewenter M, Zimmer A, Bartsch O, Linke M, Technau-Hafsi K, Gerber S, Fischer J, Has C. Frommherz L, et al. Among authors: komlosi k. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):817-822. doi: 10.1111/jdv.18719. Epub 2022 Nov 17. J Eur Acad Dermatol Venereol. 2023. PMID: 36331357
77 results