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Items: 1 to 50 of 59

1.

Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.

Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, Sticherling M, Schett G, Simon D, Mössner R, Nimeh A, Oji V, Assmann G, Rech J, Holmdahl R, Burkhardt H, Reis A, Hüffmeier U.

Rheumatology (Oxford). 2019 Feb 7. doi: 10.1093/rheumatology/key448. [Epub ahead of print] No abstract available.

PMID:
30753645
2.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.

Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Review.

3.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A.

Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21.

PMID:
30664714
4.

Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis by innate lymphocytes.

Zhong J, Scholz T, Yau ACY, Guerard S, Hüffmeier U, Burkhardt H, Holmdahl R.

Sci Adv. 2018 May 16;4(5):eaas9864. doi: 10.1126/sciadv.aas9864. eCollection 2018 May.

5.

Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations.

Wilsmann-Theis D, Schnell LM, Ralser-Isselstein V, Bieber T, Schön MP, Hüffmeier U, Mössner R.

J Dermatol. 2018 Jul;45(7):850-854. doi: 10.1111/1346-8138.14318. Epub 2018 Apr 14.

PMID:
29655177
6.

KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility.

Cascella R, Strafella C, Ragazzo M, Manzo L, Costanza G, Bowes J, Hüffmeier U, Potenza S, Sangiuolo F, Reis A, Barton A, Novelli G, Orlandi A, Giardina E.

Oncotarget. 2017 Sep 8;8(56):95401-95411. doi: 10.18632/oncotarget.20727. eCollection 2017 Nov 10.

7.

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U.

Rheumatol Int. 2018 Jan;38(1):111-120. doi: 10.1007/s00296-017-3885-0. Epub 2017 Nov 20.

PMID:
29159471
8.

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN.

Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328.

9.

The genetic basis for most patients with pustular skin disease remains elusive.

Mössner R, Wilsmann-Theis D, Oji V, Gkogkolou P, Löhr S, Schulz P, Körber A, Prinz JC, Renner R, Schäkel K, Vogelsang L, Peters KP, Philipp S, Reich K, Ständer H, Jacobi A, Weyergraf A, Kingo K, Kõks S, Gerdes S, Steinz K, Schill T, Griewank KG, Müller M, Frey S, Ebertsch L, Uebe S, Sticherling M, Sticht H, Hüffmeier U.

Br J Dermatol. 2018 Mar;178(3):740-748. doi: 10.1111/bjd.15867. Epub 2018 Jan 22.

PMID:
28887889
10.

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.

Uebe S, Ehrlicher M, Ekici AB, Behrens F, Böhm B, Homuth G, Schurmann C, Völker U, Jünger M, Nauck M, Völzke H, Traupe H, Krawczak M, Burkhardt H, Reis A, Hüffmeier U.

BMC Med Genet. 2017 Aug 23;18(1):92. doi: 10.1186/s12881-017-0447-y.

11.

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G.

JAMA Oncol. 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945.

12.

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.

Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30.

13.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C.

Eur J Med Genet. 2016 Oct;59(10):549-53. doi: 10.1016/j.ejmg.2016.09.002. Epub 2016 Sep 7.

PMID:
27613244
14.

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients.

Löhr S, Uebe S, Behrens F, Böhm B, Köhm M, Traupe H, Oji V, Burkhardt H, Reis A, Hüffmeier U.

Br J Dermatol. 2016 Sep;175(3):639-41. doi: 10.1111/bjd.14624. Epub 2016 Jul 24. No abstract available.

PMID:
27038307
15.

Replication of a distinct psoriatic arthritis risk variant at the IL23R locus.

Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, Kane D, Korendowych E, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Behrens F, Burkhardt H, Huffmeier U, Ho P, Martin J, Castañeda S, Goulielmos G, Reis A, Barton A.

Ann Rheum Dis. 2016 Jul;75(7):1417-8. doi: 10.1136/annrheumdis-2016-209290. Epub 2016 Mar 25. Review. No abstract available.

16.

Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.

Bowes J, Budu-Aggrey A, Huffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, Massey J, Bruce IN, Bluett J, Feletar M, Morgan AW, Marzo-Ortega H, Donohoe G, Morris DW, Helliwell P, Ryan AW, Kane D, Warren RB, Korendowych E, Alenius GM, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Brown MA, Ho P, Behrens F, Burkhardt H, Reis A, Barton A.

Nat Commun. 2015 Jul 6;6:7741. doi: 10.1038/ncomms8741. No abstract available.

17.

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Mössner R, Frambach Y, Wilsmann-Theis D, Löhr S, Jacobi A, Weyergraf A, Müller M, Philipp S, Renner R, Traupe H, Burkhardt H, Kingo K, Kõks S, Uebe S, Sticherling M, Sticht H, Oji V, Hüffmeier U.

J Invest Dermatol. 2015 Oct;135(10):2538-2541. doi: 10.1038/jid.2015.186. Epub 2015 May 19. No abstract available.

18.

PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.

Bowes J, Loehr S, Budu-Aggrey A, Uebe S, Bruce IN, Feletar M, Marzo-Ortega H, Helliwell P, Ryan AW, Kane D, Korendowych E, Alenius GM, Giardina E, Packham J, McManus R, FitzGerald O, Brown MA, Behrens F, Burkhardt H, McHugh N, Huffmeier U, Ho P, Reis A, Barton A.

Ann Rheum Dis. 2015 Oct;74(10):1882-5. doi: 10.1136/annrheumdis-2014-207187. Epub 2015 Apr 28.

19.

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.

Bowes J, Budu-Aggrey A, Huffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, Massey J, Bruce IN, Bluett J, Feletar M, Morgan AW, Marzo-Ortega H, Donohoe G, Morris DW, Helliwell P, Ryan AW, Kane D, Warren RB, Korendowych E, Alenius GM, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Brown MA, Ho P, Behrens F, Burkhardt H, Reis A, Barton A.

Nat Commun. 2015 Feb 5;6:6046. doi: 10.1038/ncomms7046. Erratum in: Nat Commun. 2015;6:7741.

20.

Complex role of TNF variants in psoriatic arthritis and treatment response to anti-TNF therapy: evidence and concepts.

Hüffmeier U, Mössner R.

J Invest Dermatol. 2014 Oct;134(10):2483-2485. doi: 10.1038/jid.2014.294.

21.

Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations.

Hüffmeier U, Wätzold M, Mohr J, Schön MP, Mössner R.

Br J Dermatol. 2014 Jan;170(1):202-4. doi: 10.1111/bjd.12548. No abstract available.

PMID:
23909475
22.

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A, Mössner R, Renner R, Sticht H, Wilsmann-Theis D, Schulz P, Sticherling M, Traupe H, Hüffmeier U.

J Invest Dermatol. 2013 Nov;133(11):2634-2637. doi: 10.1038/jid.2013.214. Epub 2013 May 6. No abstract available.

23.

Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis.

Apel M, Uebe S, Bowes J, Giardina E, Korendowych E, Juneblad K, Pasutto F, Ekici AB, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Padyukov L, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A, Hüffmeier U.

Arthritis Rheum. 2013 May;65(5):1224-31. doi: 10.1002/art.37885.

24.

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

Stuart PE, Hüffmeier U, Nair RP, Palla R, Tejasvi T, Schalkwijk J, Elder JT, Reis A, Armour JAL.

J Invest Dermatol. 2012 Oct;132(10):2407-2413. doi: 10.1038/jid.2012.191. Epub 2012 Jun 28.

25.

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization.

Böhm B, Burkhardt H, Uebe S, Apel M, Behrens F, Reis A, Hüffmeier U.

Arthritis Res Ther. 2012 Apr 18;14(2):R84. doi: 10.1186/ar3807.

26.

Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus.

Giardina E, Hüffmeier U, Ravindran J, Behrens F, Lepre T, McHugh NJ, Korendowych E, Burkhardt H, Novelli G, Reis A.

Arthritis Rheum. 2011 Dec;63(12):3801-6. doi: 10.1002/art.30591.

27.

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis.

Docampo E, Giardina E, Riveira-Muñoz E, de Cid R, Escaramís G, Perricone C, Fernández-Sueiro JL, Maymó J, González-Gay MA, Blanco FJ, Hüffmeier U, Lisbona MP, Martín J, Carracedo A, Reis A, Rabionet R, Novelli G, Estivill X.

Arthritis Rheum. 2011 Jul;63(7):1860-5. doi: 10.1002/art.30340.

28.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Riveira-Munoz E, He SM, Escaramís G, Stuart PE, Hüffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen PL, Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN, Capon F, Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ, Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A, Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT, Estivill X.

J Invest Dermatol. 2011 May;131(5):1105-9. doi: 10.1038/jid.2010.350. Epub 2010 Nov 25.

29.

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X, Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, Hüffmeier U, Hunt SE, Irvine AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L, Markus HS, Mathew CG, McLean WH, McManus R, Mössner R, Moutsianas L, Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C, Pirinen M, Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, Ståhle M, Su Z, Tazi-Ahnini R, Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N, Worthington J, Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC.

Nat Genet. 2010 Nov;42(11):985-90. doi: 10.1038/ng.694. Epub 2010 Oct 17.

30.

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A.

Nat Genet. 2010 Nov;42(11):996-9. doi: 10.1038/ng.688. Epub 2010 Oct 17.

31.

Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors.

Hüffmeier U, Bergboer JG, Becker T, Armour JA, Traupe H, Estivill X, Riveira-Munoz E, Mössner R, Reich K, Kurrat W, Wienker TF, Schalkwijk J, Zeeuwen PL, Reis A.

J Invest Dermatol. 2010 Apr;130(4):979-84. doi: 10.1038/jid.2009.385. Epub 2009 Dec 17.

32.

Genotyping microarray for CSNB-associated genes.

Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2.

PMID:
19578023
33.

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.

Hüffmeier U, Lascorz J, Becker T, Schürmeier-Horst F, Magener A, Ekici AB, Endele S, Thiel CT, Thoma-Uszynski S, Mössner R, Reich K, Kurrat W, Wienker TF, Traupe H, Reis A.

J Med Genet. 2009 Nov;46(11):736-44. doi: 10.1136/jmg.2008.065029. Epub 2009 Jun 11.

34.

Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients.

Hüffmeier U, Estivill X, Riveira-Munoz E, Traupe H, Wendler J, Lohmann J, Böhm B, Burkhardt H, Reis A.

Ann Rheum Dis. 2010 May;69(5):876-8. doi: 10.1136/ard.2009.108951. Epub 2009 May 12. Erratum in: Ann Rheum Dis. 2012 Oct;71(10):1756.

35.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25.

36.

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.

Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Hüffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH.

Br J Dermatol. 2009 Apr;160(4):771-81. doi: 10.1111/j.1365-2133.2008.08999.x. Epub 2009 Jan 13.

PMID:
19183181
37.

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.

J Invest Dermatol. 2009 Feb;129(2):355-8. doi: 10.1038/jid.2008.233. Epub 2008 Sep 18.

38.

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Huffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, Warren RB, Young HS, Worthington J, Burden AD, Griffiths CE, Hayday A, Nestle FO, Reis A, Lanchbury J, Barker JN, Trembath RC.

Hum Mol Genet. 2008 Jul 1;17(13):1938-45. doi: 10.1093/hmg/ddn091. Epub 2008 Mar 25.

39.

Psoriasis is associated with increased beta-defensin genomic copy number.

Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J.

Nat Genet. 2008 Jan;40(1):23-5. Epub 2007 Dec 2.

40.
41.

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.

J Med Genet. 2007 Oct;44(10):629-36. Epub 2007 Jun 29.

42.

TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele.

Reich K, Hüffmeier U, König IR, Lascorz J, Lohmann J, Wendler J, Traupe H, Mössner R, Reis A, Burkhardt H.

Arthritis Rheum. 2007 Jun;56(6):2056-64.

43.

Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

Hüffmeier U, Tietze HU, Rauch A.

Eur J Med Genet. 2007 May-Jun;50(3):209-15. Epub 2007 Mar 12.

PMID:
17433800
44.

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.

J Invest Dermatol. 2007 Jun;127(6):1367-70. Epub 2007 Jan 25.

45.

Lack of genetic association of the interleukin-4 receptor single-nucleotide polymorphisms I50V and Q551R with erosive disease in psoriatic arthritis.

Lascorz J, Hüffmeier U, Schulze-Koops H, Skapenko A, Reis A, Lohmann J, Wendler J, Traupe H, Küster W, Burkhardt H.

Arthritis Rheum. 2006 Dec;54(12):4023-4. No abstract available.

46.

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.

Am J Med Genet A. 2006 Dec 15;140(24):2749-56.

PMID:
17103458
47.

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.

Am J Med Genet A. 2006 Oct 1;140(19):2063-74.

PMID:
16917849
48.

Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis.

Hüffmeier U, Reis A, Steffens M, Lascorz J, Böhm B, Lohmann J, Wendler J, Traupe H, Küster W, Wienker TF, Burkhardt H.

J Invest Dermatol. 2006 Apr;126(4):932-5. No abstract available.

50.

Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients.

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