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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: kusel j. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
Alitretinoin in punctate palmoplantar keratoderma.
Yilmaz P, Medvecz M, Kohlhase J, Küsel J, Fischer J, Has C. Yilmaz P, et al. Among authors: kusel j. Br J Dermatol. 2019 Apr;180(4):931-932. doi: 10.1111/bjd.17336. Epub 2018 Dec 19. Br J Dermatol. 2019. PMID: 30339730 No abstract available.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Among authors: kusel j. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
The impact of ultrasound-based antenatal screening strategies to detect vasa praevia in the United Kingdom: An exploratory study using decision analytic modelling methods.
Ruban-Fell B, Attilakos G, Haskins-Coulter T, Hyde C, Kusel J, Mackie A, Rivero-Arias O, Thilaganathan B, Thomson N, Visintin C, Marshall J. Ruban-Fell B, et al. Among authors: kusel j. PLoS One. 2022 Dec 20;17(12):e0279229. doi: 10.1371/journal.pone.0279229. eCollection 2022. PLoS One. 2022. PMID: 36538562 Free PMC article.
169 results