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A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema.
Schulz F, Marenholz I, Fölster-Holst R, Chen C, Sternjak A, Baumgrass R, Esparza-Gordillo J, Grüber C, Nickel R, Schreiber S, Stoll M, Kurek M, Rüschendorf F, Hubner N, Wahn U, Lee YA. Schulz F, et al. Among authors: ruschendorf f. J Allergy Clin Immunol. 2007 Nov;120(5):1097-102. doi: 10.1016/j.jaci.2007.07.065. Epub 2007 Sep 27. J Allergy Clin Immunol. 2007. PMID: 17900679
A common variant on chromosome 11q13 is associated with atopic dermatitis.
Esparza-Gordillo J, Weidinger S, Fölster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A. Esparza-Gordillo J, et al. Among authors: ruschendorf f. Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6. Nat Genet. 2009. PMID: 19349984
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA. Esparza-Gordillo J, et al. Among authors: ruschendorf f. J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9. J Allergy Clin Immunol. 2013. PMID: 23582566
Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K. Simaite D, et al. Among authors: ruschendorf f. Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21. Diabetes. 2014. PMID: 24848070 Free article.
Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J. Auer F, et al. Among authors: ruschendorf f. Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29. Leukemia. 2014. PMID: 24287434 No abstract available.
Genome-wide linkage scan for bladder exstrophy-epispadias complex.
Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. Ludwig M, et al. Among authors: ruschendorf f. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):174-8. doi: 10.1002/bdra.20512. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19086019
Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.
Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M. Reutter H, et al. Among authors: ruschendorf f. Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):757-61. doi: 10.1002/bdra.20701. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20672349
105 results