List of works - Ulrike Hüffmeier

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

scientific article

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene

article

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

scientific article published on 23 February 2017

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

scientific article

Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis

scientific article published in January 2006

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

scientific article

Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci

article

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

scientific article published on 30 November 2016

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

scientific article published on 11 June 2009

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

scientific journal article

Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti-TNF Therapy: Evidence and Concepts

article

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

scientific article published in 2024

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

scientific article published on 6 July 2015

Cytokine balance in infants undergoing cardiac operation

scientific article published in February 2002

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

scientific article

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

scientific article published on July 2011

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

scientific article

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

scientific article published in October 2006

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

scientific article published on 6 September 2016

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

scientific article published on 20 November 2017

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

scientific article published on 09 December 2005

Genetic Variants of the IL-23R Pathway: Association with Psoriatic Arthritis and Psoriasis Vulgaris, but No Specific Risk Factor for Arthritis

scientific article published on 18 September 2008

Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups

scientific article published on 12 May 2020

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

scientific article published on 23 August 2017

Genotyping microarray for CSNB-associated genes.

scientific article

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

scientific journal article

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

scientific article

Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis

scientific article

Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts

scientific article

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

scientific article published on 01 December 2006

Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort

scientific article published on 11 November 2004

Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients

article

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

scientific article published in April 2006

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

scientific article

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

scientific article

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

scientific article published on 29 June 2007

Mutations in IL36RN in patients with generalized pustular psoriasis

scientific article published on 6 May 2013

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

scientific article

Novel autosomal recessive progressive hyperpigmentation syndrome

scientific article published on 01 June 2005

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

scientific article published on 19 May 2015

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

article

Severe skeletal dysplasia caused by undiagnosed hypothyroidism

scientific article published on 12 March 2007

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

scientific article published in January 2014

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

scientific article published on 14 April 2005

Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris

scientific article

TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphismTNF*-857 independent of thePSORS1 risk allele

scholarly article by Kristian Reich et al published 2007 in Arthritis and Rheumatism

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

scientific article published on 5 August 2017

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Tumor necrosis factor polymorphisms in psoriatic arthritis: association with the promoter polymorphism TNF-857 independent of the PSORS1 risk allele.

scientific article published on 19 October 2007

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

scholarly article by Emiliano Giardina et al published 29 November 2011 in Arthritis and Rheumatism

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

scientific article published on August 2003

Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

article

List of works by Ulrike Hüffmeier

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

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene

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

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

Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis

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

Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci

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

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

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

Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti-TNF Therapy: Evidence and Concepts

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

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

Cytokine balance in infants undergoing cardiac operation

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

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

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

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

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

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

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

Genetic Variants of the IL-23R Pathway: Association with Psoriatic Arthritis and Psoriasis Vulgaris, but No Specific Risk Factor for Arthritis

Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups

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

Genotyping microarray for CSNB-associated genes.

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

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

Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis

Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts

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

Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort

Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients

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

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

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

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

Mutations in IL36RN in patients with generalized pustular psoriasis

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

Novel autosomal recessive progressive hyperpigmentation syndrome

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

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

Severe skeletal dysplasia caused by undiagnosed hypothyroidism

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

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

Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris

TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphismTNF*-857 independent of thePSORS1 risk allele

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

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Tumor necrosis factor polymorphisms in psoriatic arthritis: association with the promoter polymorphism TNF-857 independent of the PSORS1 risk allele.

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

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

Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis