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Acta Dermato-Venereologica|November 27, 2015
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic VariabilityKathrin A Giehl, Thomas Herzinger, Hans Wolff, et al.
The Journal of Dermatology|June 26, 2024
Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 familiesKifayat Ullah, Sohail Ahmed, Nicole Cesarato, et al.
The British Journal of Dermatology|December 25, 2009
The TRAF1/C5 locus confers risk for familial and severe alopecia areataS Redler, F F Brockschmidt, L Forstbauer, et al.
American Journal of Human Genetics|October 16, 2012
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasiaZhimiao Lin, Quan Chen, Lei Shi, et al.
American Journal of Human Genetics|February 9, 2006
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos diseaseRegina C Betz, Laura Planko, Sibylle Eigelshoven, et al.
American Journal of Human Genetics|February 29, 2008
Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26Axel M Hillmer, Antonia Flaquer, Sandra Hanneken, et al.
HNO|December 29, 2025
[Different immunological types of CRSwNP in the context of the new European EAACI nomenclature : Part 2: Hypersensitivity reactions of type V (epithelial barrier defects)]L Klimek, S Becker, B Haxel, et al.
HNO|April 8, 2025
[Different immunological types of CRSwNP in the context of the new European EAACI nomenclature : Part 1: Hypersensitivity reactions of type IVa-c as a correlate to T1, T2, and T3 endotypes]L Klimek, S Becker, B Haxel, et al.
HNO|February 3, 2026
[Different immunological types of CRSwNP in the context of the new European EAACI nomenclature : Part 3: Hypersensitivity reactions of type VI]L Klimek, S Becker, B Haxel, et al.
The Journal of Investigative Dermatology|June 22, 2007
Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic diseaseRegina C Betz, Jana Pforr, Antonia Flaquer, et al.
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