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Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Hillmer AM, et al. Among authors: ruzicka t. Am J Hum Genet. 2005 Jul;77(1):140-8. doi: 10.1086/431425. Epub 2005 May 18. Am J Hum Genet. 2005. PMID: 15902657 Free PMC article.
Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.
Hillmer AM, Flaquer A, Hanneken S, Eigelshoven S, Kortüm AK, Brockschmidt FF, Golla A, Metzen C, Thiele H, Kolberg S, Reinartz R, Betz RC, Ruzicka T, Hennies HC, Kruse R, Nöthen MM. Hillmer AM, et al. Among authors: ruzicka t. Am J Hum Genet. 2008 Mar;82(3):737-43. doi: 10.1016/j.ajhg.2007.11.014. Epub 2008 Feb 21. Am J Hum Genet. 2008. PMID: 18304493 Free PMC article.
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R. Betz RC, et al. Among authors: ruzicka t. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19. Am J Hum Genet. 2006. PMID: 16465624 Free PMC article.
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia.
Kruse R, Cichon S, Anker M, Hillmer AM, Barros-Núñez P, Cantú JM, Leal E, Weinlich G, Schmuth M, Fritsch P, Ruzicka T, Propping P, Nöthen MM. Kruse R, et al. Among authors: ruzicka t. J Invest Dermatol. 1999 Dec;113(6):954-9. doi: 10.1046/j.1523-1747.1999.00790.x. J Invest Dermatol. 1999. PMID: 10594736 Free article.
Familial aggregation of alopecia areata.
Blaumeiser B, van der Goot I, Fimmers R, Hanneken S, Ritzmann S, Seymons K, Betz RC, Ruzicka T, Wienker TF, De Weert J, Lambert J, Kruse R, Nöthen MM. Blaumeiser B, et al. Among authors: ruzicka t. J Am Acad Dermatol. 2006 Apr;54(4):627-32. doi: 10.1016/j.jaad.2005.12.007. Epub 2006 Jan 23. J Am Acad Dermatol. 2006. PMID: 16546583
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.
Kruse R, Rütten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P. Kruse R, et al. Among authors: ruzicka t. Am J Hum Genet. 1998 Jul;63(1):63-70. doi: 10.1086/301926. Am J Hum Genet. 1998. PMID: 9634524 Free PMC article.
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