[HTML][HTML] Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

…, E Giardina, E Gray, A Hofer, U Hüffmeier… - Nature …, 2010 - ncbi.nlm.nih.gov
(WTCCC2) consortia is provided in the Supplementary Note online. Author Contributions FC,
ADB, CEMG, J. Kere., A. Reis, JNB and RCT oversaw cohort collection for both the …

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

…, C Becker, M Zenker, U Hüffmeier… - American journal of …, 2006 - Wiley Online Library
The underlying cause of mental retardation remains unknown in up to 80% of patients. As
chromosomal aberrations are the most common known cause of mental retardation, several …

Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study

…, W Zheng, XO Shu, A Reis, S Uebe, U Hüffmeier… - JAMA …, 2017 - jamanetwork.com
Importance The causal direction and magnitude of the association between telomere length
and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility …

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

U Hüffmeier, S Uebe, AB Ekici, J Bowes, E Giardina… - Nature …, 2010 - nature.com
Psoriatic arthritis (PsA) is an inflammatory joint disease that is distinct from other chronic
arthritides and which is frequently accompanied by psoriasis vulgaris (PsV) and seronegativity …

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

U Hüffmeier, J Lascorz, B Böhm, J Lohmann… - Journal of Investigative …, 2009 - Elsevier
Variants in two genes of the IL-23 receptor (R) pathway have recently been shown to be
associated with psoriasis vulgaris (PV). We were interested whether the risk conferred by these …

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

U Hüffmeier, M Wätzold, J Mohr… - British Journal of …, 2014 - academic.oup.com
1 Willemze R, Jaffe ES, Burg G et al. WHO-EORTC classification for cutaneous lymphomas.
Blood 2005; 105: 3768–85. 2 Phan NQ, Blome C, Fritz F et al. Assessment of pruritus …

TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphism TNF*‐857 independent of the PSORS1 risk allele

K Reich, U Hüffmeier, IR König, J Lascorz… - Arthritis & …, 2007 - Wiley Online Library
Objective Single‐nucleotide polymorphisms (SNPs) of the tumor necrosis factor gene TNF
at positions −238 and −308 have been associated with psoriasis vulgaris and psoriatic …

Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11. 2

…, A Koch, R Rauch, J Lascorz, U Hüffmeier… - Journal of Medical …, 2005 - jmg.bmj.com
Introduction: Clinical variability associated with the common 22q11.2 microdeletion is well
known, and has led to a broad application of FISH diagnostics with probes for loci TUPLE1 or …

[PDF][PDF] Mutations in IL36RN in patients with generalized pustular psoriasis

…, M Sticherling, H Traupe, U Hüffmeier - The Journal of …, 2013 - core.ac.uk
Generalized pustular psoriasis (GPP) is a rare disorder affecting about 2 per million individuals
in Europe (Augey et al., 2006). This severe disease is characterized by repeated flare-…

Psoriasis is associated with increased β-defensin genomic copy number

EJ Hollox, U Huffmeier, PLJM Zeeuwen, R Palla… - Nature …, 2008 - nature.com
Psoriasis is a common inflammatory skin disease with a strong genetic component. We
analyzed the genomic copy number polymorphism of the β-defensin region on human …