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Page 1
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Has C, et al. Among authors: fischer j. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Hum Mutat. 2011. PMID: 21936020 Review.
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. Bornholdt D, et al. Among authors: fischer j. Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8. Hum Mutat. 2013. PMID: 23316014
Nonsyndromic types of ichthyoses - an update.
Traupe H, Fischer J, Oji V. Traupe H, et al. Among authors: fischer j. J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11. J Dtsch Dermatol Ges. 2014. PMID: 24119255 Free article. Review.
S1-Leitlinie zur Diagnostik und Therapie der Ichthyosen - Aktualisierung.
Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H. Oji V, et al. Among authors: fischer j. J Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065. doi: 10.1111/ddg.13340_g. J Dtsch Dermatol Ges. 2017. PMID: 28976098 No abstract available.
S1 guidelines for the diagnosis and treatment of ichthyoses - update.
Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H. Oji V, et al. Among authors: fischer j. J Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065. doi: 10.1111/ddg.13340. J Dtsch Dermatol Ges. 2017. PMID: 28976107
Management of congenital ichthyoses: European guidelines of care, part two.
Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V. Mazereeuw-Hautier J, et al. Among authors: fischer j. Br J Dermatol. 2019 Mar;180(3):484-495. doi: 10.1111/bjd.16882. Epub 2018 Dec 3. Br J Dermatol. 2019. PMID: 29897631
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.
Rauschendorf MA, Zimmer AD, Laut A, Demmer P, Rösler B, Happle R, Sartori S, Fischer J. Rauschendorf MA, et al. Among authors: fischer j. Pigment Cell Melanoma Res. 2019 Jan;32(1):85-91. doi: 10.1111/pcmr.12733. Epub 2018 Sep 6. Pigment Cell Melanoma Res. 2019. PMID: 30117279 No abstract available.
Management of congenital ichthyoses: European guidelines of care, part one.
Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Gånemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, O'Toole EA, Oji V, Hernandez-Martin A. Mazereeuw-Hautier J, et al. Among authors: fischer j. Br J Dermatol. 2019 Feb;180(2):272-281. doi: 10.1111/bjd.17203. Epub 2018 Dec 3. Br J Dermatol. 2019. PMID: 30216406
5,861 results