Hüffmeier U - Search Results

1

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D. Kuechler A, et al. Among authors: huffmeier u. Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30. Eur J Hum Genet. 2017. PMID: 27901041 Free PMC article.

2

Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis.

Kriegel MA, Hüffmeier U, Scherb E, Scheidig C, Geiler T, Kalden JR, Reis A, Lorenz HM. Kriegel MA, et al. Among authors: huffmeier u. Arthritis Rheum. 2003 Aug;48(8):2386-8. doi: 10.1002/art.11169. Arthritis Rheum. 2003. PMID: 12905494 Free article. No abstract available.

3

Novel autosomal recessive progressive hyperpigmentation syndrome.

Hüffmeier U, Hausser I, Reis A, Rauch A. Hüffmeier U, et al. Am J Med Genet A. 2005 Jun 1;135(2):195-9. doi: 10.1002/ajmg.a.30668. Am J Med Genet A. 2005. PMID: 15852476

4

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Rauch A, et al. Among authors: huffmeier u. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. doi: 10.1002/ajmg.a.31416. Am J Med Genet A. 2006. PMID: 16917849

5

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. Hüffmeier U, et al. Am J Med Genet A. 2006 Dec 15;140(24):2749-56. doi: 10.1002/ajmg.a.31547. Am J Med Genet A. 2006. PMID: 17103458

6

Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients.

Hüffmeier U, Traupe H, Oji V, Lascorz J, Ständer M, Lohmann J, Wendler J, Burkhardt H, Reis A. Hüffmeier U, et al. J Invest Dermatol. 2007 Jun;127(6):1367-70. doi: 10.1038/sj.jid.5700720. Epub 2007 Jan 25. J Invest Dermatol. 2007. PMID: 17255953 Free article.

7

Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

Hüffmeier U, Tietze HU, Rauch A. Hüffmeier U, et al. Eur J Med Genet. 2007 May-Jun;50(3):209-15. doi: 10.1016/j.ejmg.2007.02.002. Epub 2007 Mar 12. Eur J Med Genet. 2007. PMID: 17433800

8

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: huffmeier u. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.

9

Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis.

Hüffmeier U, Böiers U, Lascorz J, Reis A, Burkhardt H. Hüffmeier U, et al. Ann Rheum Dis. 2008 Jan;67(1):131-3. doi: 10.1136/ard.2007.073239. Epub 2007 Aug 17. Ann Rheum Dis. 2008. PMID: 17704064

10

Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.

Hüffmeier U, Lascorz J, Böhm B, Lohmann J, Wendler J, Mössner R, Reich K, Traupe H, Kurrat W, Burkhardt H, Reis A. Hüffmeier U, et al. J Invest Dermatol. 2009 Feb;129(2):355-8. doi: 10.1038/jid.2008.233. Epub 2008 Sep 18. J Invest Dermatol. 2009. PMID: 18800148 Free article.

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