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Page 1
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford). 2023 Apr 3;62(4):1699-1705. doi: 10.1093/rheumatology/keac575.
Rheumatology (Oxford). 2023.
PMID: 36193988
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.
Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6.
Nat Genet. 2009.
PMID: 19349984
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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.
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
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Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo J, Matanovic A, Marenholz I, Bauerfeind A, Rohde K, Nemat K, Lee-Kirsch MA, Nordenskjöld M, Winge MC, Keil T, Krüger R, Lau S, Beyer K, Kalb B, Niggemann B, Hübner N, Cordell HJ, Bradley M, Lee YA.
Esparza-Gordillo J, et al.
PLoS Genet. 2015 Mar 10;11(3):e1005076. doi: 10.1371/journal.pgen.1005076. eCollection 2015 Mar.
PLoS Genet. 2015.
PMID: 25757221
Free PMC article.
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Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
Marenholz I, Rivera VA, Esparza-Gordillo J, Bauerfeind A, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA.
Marenholz I, et al.
J Invest Dermatol. 2011 Aug;131(8):1644-9. doi: 10.1038/jid.2011.90. Epub 2011 Apr 14.
J Invest Dermatol. 2011.
PMID: 21490620
Free article.
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