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Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. Among authors: betz rc. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140
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: betz rc. 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.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Among authors: betz rc. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Malki L, et al. Among authors: betz rc. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336749 Free PMC article.
A Global eDelphi Exercise to Identify Core Domains and Domain Items for the Development of a Global Registry of Alopecia Areata Disease Severity and Treatment Safety (GRASS).
Wall D, Meah N, York K, Bhoyrul B, Bokhari L, Abraham LS, Adams R, Bergfeld W, Betz RC, Blume-Peytavi U, Callender V, Campbell C, Chambers J, Chen G, Chitreddy V, Cotsarelis G, Craiglow B, Dhurat R, Dlova N, Donovan J, Duque-Estrada B, Eisman S, Ellison A, Farrant P, Barberá JF, Gadzhigoroeva A, Grimalt R, Harries M, Hordinsky M, Irvine AD, Jolliffe V, Jones L, King B, Lee WS, Lortkipanidze N, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Ovcharenko Y, Piraccini BM, Pirmez R, Rakowska A, Reygagne P, Riley M, Rudnicka L, Saceda Corralo D, Shapiro J, Sharma P, Silyuk T, Kaiumov S, Tobin DJ, Tosti A, Vañó-Galván S, Vogt A, Wade M, Yip L, Zlotogorski A, Zhou C, Sinclair R. Wall D, et al. Among authors: betz rc. JAMA Dermatol. 2021 Apr 1;157(4):1-11. doi: 10.1001/jamadermatol.2020.5839. JAMA Dermatol. 2021. PMID: 33656556
187 results