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Prenatal diagnosis of Pfeiffer syndrome type II.
Blaumeiser B, Loquet P, Wuyts W, Nöthen MM. Blaumeiser B, et al. Prenat Diagn. 2004 Aug;24(8):644-6. doi: 10.1002/pd.960. Prenat Diagn. 2004. PMID: 15305355
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Southgate L, et al. Among authors: blaumeiser b. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013. Am J Hum Genet. 2011. PMID: 21565291 Free PMC article.
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 disease.
Betz RC, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S, Kortüm AK, Tüting T, Lambert J, De Weert J, Hillmer AM, Schmael C, Wienker TF, Kruse R, Lutz G, Blaumeiser B, Nöthen MM. Betz RC, et al. Among authors: blaumeiser b. J Invest Dermatol. 2007 Nov;127(11):2539-43. doi: 10.1038/sj.jid.5700915. Epub 2007 Jun 21. J Invest Dermatol. 2007. PMID: 17581619 Free article.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, Blume-Peytavi U, Petukhova L, Christiano AM, Nöthen MM, Betz RC. Fischer J, et al. Among authors: blaumeiser b. Exp Dermatol. 2017 Jun;26(6):536-541. doi: 10.1111/exd.13123. Epub 2017 Mar 23. Exp Dermatol. 2017. PMID: 27306922
69 results