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Page 1
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.
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.
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
Odd-looking hair and progressive alopecia in mother and son.
Kolb-Mäurer A, Betz RC, Hamm H. Kolb-Mäurer A, et al. Among authors: hamm h. JAMA Dermatol. 2014 May;150(5):567-8. doi: 10.1001/jamadermatol.2013.8078. JAMA Dermatol. 2014. PMID: 24647624 Review. No abstract available.
Cutaneous mosaicism of lethal mutations.
Hamm H. Hamm H. Am J Med Genet. 1999 Aug 6;85(4):342-5. doi: 10.1002/(sici)1096-8628(19990806)85:4<342::aid-ajmg6>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10398256 Review.
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
568 results