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Page 1
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: hamm h. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Jägle S, et al. Among authors: hamm h. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. Acta Derm Venereol. 2021. PMID: 33491095 Free PMC article.
White sponge nevus - a rare autosomal dominant keratinopathy.
Benoit S, Schlipf N, Hausser I, Fischer J, Hamm H. Benoit S, et al. Among authors: hamm h. Klin Padiatr. 2014 Nov;226(6-7):375-6. doi: 10.1055/s-0034-1371843. Epub 2014 May 8. Klin Padiatr. 2014. PMID: 24810752 No abstract available.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Among authors: hamm h. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.
Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Hüffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH. Oji V, et al. Among authors: hamm h. Br J Dermatol. 2009 Apr;160(4):771-81. doi: 10.1111/j.1365-2133.2008.08999.x. Epub 2009 Jan 13. Br J Dermatol. 2009. PMID: 19183181
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: hamm h. J Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065. doi: 10.1111/ddg.13340. J Dtsch Dermatol Ges. 2017. PMID: 28976107
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. Thomas AC, et al. Among authors: hamm h. J Invest Dermatol. 2016 Apr;136(4):770-778. doi: 10.1016/j.jid.2015.11.027. Epub 2016 Jan 14. J Invest Dermatol. 2016. PMID: 26778290 Free PMC article.
[Role of the dermatologist in recognizing syndromes].
Giehl K, Hamm H, Has C. Giehl K, et al. Among authors: hamm h. Hautarzt. 2019 Jul;70(7):472-473. doi: 10.1007/s00105-019-4442-4. Hautarzt. 2019. PMID: 31243517 German. No abstract available.
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: hamm h. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
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: hamm h. 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.
568 results