Peter Lohse

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Assessed papers (1)

• Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
  2014 L1 No computation

1 assessed by us (0 reproduced) · 167 not yet assessed — every PubMed paper on record, linked below.

• Reduced Steroid Synthesis in the Follicular Fluid of MTHFR 677TT Mutation Carriers: Effects of Increased Folic Acid Administration ↗

  Geburtshilfe und Frauenheilkunde · 2022 · PMID 36186148
  not yet assessed
• Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn’s disease and active smoking status resulting in ileal stenosis requiring surgery ↗

  PLoS ONE · 2020 · PMID 32716958
  not yet assessed
• A Case of Muckle‐Wells Syndrome due to novel NLRP3 mutation ↗

  JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2018 · PMID 30157308
  not yet assessed
• Ein Fall von Muckle‐Wells‐Syndrom mit einer neuen NLRP3‐Mutation ↗

  JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2018 · PMID 30300484
  not yet assessed
• TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis ↗

  European Journal of Paediatric Neurology · 2017 · PMID 28927886
  not yet assessed
• Lung disease caused byABCA3mutations ↗

  Thorax · 2016 · PMID 27516224
  not yet assessed
• Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever ↗

  Arthritis & Rheumatology · 2016 · PMID 27333294
  not yet assessed
• Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3 ↗

  Molecular Medicine · 2016 · PMID 26928390
  not yet assessed
• Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations. ↗

  PubMed · 2016 · PMID 26486615
  not yet assessed
• Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients ↗

  G3 Genes Genomes Genetics · 2016 · PMID 27194806
  not yet assessed
• Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever ↗

  BMJ Case Reports · 2016 · PMID 27899390
  not yet assessed
• Lipocalin-2 Is a Disease Activity Marker in Inflammatory Bowel Disease Regulated by IL-17A, IL-22, and TNF-α and Modulated by IL23R Genotype Status ↗

  Inflammatory Bowel Diseases · 2015 · PMID 26263469
  not yet assessed
• Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases ↗

  Journal of Allergy and Clinical Immunology · 2015 · PMID 26025129
  not yet assessed
• Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients ↗

  European Respiratory Journal · 2015 · PMID 25657025
  not yet assessed
• Categorizing diffuse parenchymal lung disease in children ↗

  Orphanet Journal of Rare Diseases · 2015 · PMID 26408013
  not yet assessed
• Early detection of sensorineural hearing loss in Muckle-Wells-syndrome ↗

  Pediatric Rheumatology · 2015 · PMID 26531310
  not yet assessed
• Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations ↗

  Neurology Neuroimmunology & Neuroinflammation · 2015 · PMID 26020059
  not yet assessed
• Genome-wide significant association with seven novel multiple sclerosis risk loci ↗

  Journal of Medical Genetics · 2015 · PMID 26475045
  not yet assessed
• The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn's Disease in the Absence of Other NOD2 Mutations ↗

  PLoS ONE · 2015 · PMID 26147989
  not yet assessed
• Surfactant proteins in pediatric interstitial lung disease ↗

  Pediatric Research · 2015 · PMID 26375475
  not yet assessed
• Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis ↗

  Orphanet Journal of Rare Diseases · 2014 · PMID 25425184
  not yet assessed
• Multiple sclerosis–like lesions and type I interferon signature in a patient with RVCL ↗

  Neurology Neuroimmunology & Neuroinflammation · 2014 · PMID 25566545
  not yet assessed
• Risk factors for AA amyloidosis in Germany ↗

  Amyloid · 2014 · PMID 25376380
  not yet assessed
• Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

  Atherosclerosis · 2014 · PMID 24529129
  L1 No computation
• The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067 ↗

  PLoS ONE · 2014 · PMID 25365249
  not yet assessed
• Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis ↗

  Neurogenetics · 2014 · PMID 24638856
  not yet assessed
• Urticaria, Fever, and Hypofibrinogenemia ↗

  Arthritis & Rheumatology · 2014 · PMID 24782193
  not yet assessed
• Clinical features of four children with pulmonary alveolar proteinosis ↗

  European Respiratory Journal · 2014
  not yet assessed
• Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens ↗

  Arthritis Research & Therapy · 2013 · PMID 23718630
  not yet assessed
• MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis ↗

  Brain · 2013 · PMID 23739915
  not yet assessed
• Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk ↗

  Journal of Medical Genetics · 2013 · PMID 23315543
  not yet assessed
• Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS). ↗

  PubMed · 2013 · PMID 24064022
  not yet assessed
• Antihistamine-resistant Angioedema in Women with Negative Family History: Estrogens and F12 Gene Mutations ↗

  The American Journal of Medicine · 2013 · PMID 24262729
  not yet assessed
• Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders ↗

  PLoS ONE · 2013 · PMID 23894535
  not yet assessed
• Symptoms Related to Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome, Multiple Sclerosis, and Severe Rheumatoid Arthritis in Patients Carrying the TNF Receptor Superfamily 1A D12E/p.Asp41Glu Mutation ↗

  The Journal of Rheumatology · 2013 · PMID 23322460
  not yet assessed
• Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma ↗

  Acta Neurochirurgica · 2013 · PMID 23532344
  not yet assessed
• Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β ↗

  Human Mutation · 2012 · PMID 22833538
  not yet assessed
• Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1 ↗

  Journal of Medical Genetics · 2012 · PMID 22972946
  not yet assessed
• A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency ↗

  Hormone Research in Paediatrics · 2012 · PMID 22286346
  not yet assessed
• A defect of CD16-positive monocytes can occur without disease ↗

  Immunobiology · 2012 · PMID 22459269
  not yet assessed
• Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation ↗

  Indian journal of human genetics · 2012 · PMID 23162302
  not yet assessed
• Front & Back Matter ↗

  Hormone Research in Paediatrics · 2012
  not yet assessed
• (untitled) ↗

  Carl Hanser Verlag GmbH & Co. KG eBooks · 2012
  not yet assessed
• Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)–a new autoinflammatory syndrome distinct from PAPA syndrome ↗

  Journal of the American Academy of Dermatology · 2011 · PMID 21745697
  not yet assessed
• Immunohistochemistry in the classification of systemic forms of amyloidosis: a systematic investigation of 117 patients ↗

  Blood · 2011 · PMID 22106346
  not yet assessed
• Skeletal scintigraphy indicates disease severity of cardiac involvement in patients with senile systemic amyloidosis ↗

  International Journal of Cardiology · 2011 · PMID 21764155
  not yet assessed
• Independent replication of STAT3 association with multiple sclerosis risk in a large German case–control sample ↗

  Neurogenetics · 2011 · PMID 22095036
  not yet assessed
• Divergent effects of the 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness and anti-Müllerian hormone concentrations ↗

  Fertility and Sterility · 2011 · PMID 21481373
  not yet assessed
• Expression of Circulatory Dendritic Cells and Regulatory T-Cells in Patients With Different Subsets of Coronary Artery Disease ↗

  Journal of Cardiovascular Pharmacology · 2011 · PMID 21297489
  not yet assessed
• NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment ↗

  Arthritis Research & Therapy · 2011 · PMID 22146561
  not yet assessed
• Long-term follow-up and treatment of congenital alveolar proteinosis ↗

  BMC Pediatrics · 2011 · PMID 21849033
  not yet assessed
• GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation ↗

  ISRN Pediatrics · 2011 · PMID 22389783
  not yet assessed
• CEACAM6 Gene Variants in Inflammatory Bowel Disease ↗

  PLoS ONE · 2011 · PMID 21559399
  not yet assessed
• Cap-syndrome: Genetic And Clinical Investigation In A Family Of Five Generations Considering Particular Uveitis

  Investigative Ophthalmology & Visual Science · 2011
  not yet assessed
• Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome ↗

  Arthritis & Rheumatism · 2010 · PMID 21360513
  not yet assessed
• Disease Activity, ANCA, and IL23R Genotype Status Determine Early Response to Infliximab in Patients With Ulcerative Colitis ↗

  The American Journal of Gastroenterology · 2010 · PMID 20197757
  not yet assessed
• Evidence for STAT4 as a Common Autoimmune Gene: rs7574865 Is Associated with Colonic Crohn's Disease and Early Disease Onset ↗

  PLoS ONE · 2010 · PMID 20454450
  not yet assessed
• Strong overexpression of CXCR3 axis components in childhood inflammatory bowel disease ↗

  Inflammatory Bowel Diseases · 2010 · PMID 20848514
  not yet assessed
• Amyloid in endomyocardial biopsies ↗

  Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2010 · PMID 20376481
  not yet assessed
• Risk factors for severe Muckle‐Wells syndrome ↗

  Arthritis & Rheumatism · 2010 · PMID 20722029
  not yet assessed
• The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn’s disease independent of the IL23R genotype ↗

  Journal of Gastroenterology · 2010 · PMID 20428899
  not yet assessed
• NOD2 mutations predict the risk for surgery in pediatric-onset Crohn's disease ↗

  Journal of Pediatric Surgery · 2010 · PMID 20713205
  not yet assessed
• The Cannabinoid 1 Receptor (CNR1) 1359 G/A Polymorphism Modulates Susceptibility to Ulcerative Colitis and the Phenotype in Crohn's Disease ↗

  PLoS ONE · 2010 · PMID 20195480
  not yet assessed
• The NOD2 Single Nucleotide Polymorphisms rs2066843 and rs2076756 Are Novel and Common Crohn's Disease Susceptibility Gene Variants ↗

  PLoS ONE · 2010 · PMID 21209938
  not yet assessed
• Hirschsprung-associated enterocolitis develops independently of NOD2 variants ↗

  Journal of Pediatric Surgery · 2010 · PMID 20850627
  not yet assessed
• A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls ↗

  Experimental Hematology · 2010 · PMID 20888888
  not yet assessed
• ORIGINAL ARTICLE: Leptin Gene (TTTC)n Microsatellite Polymorphism as well as Leptin Receptor R223Q and PPARγ2 P12A Substitutions are not Associated with Hypertensive Disorders in Pregnancy ↗

  American Journal of Reproductive Immunology · 2010 · PMID 20070288
  not yet assessed
• Hereditary Apolipoprotein AI-Associated Amyloidosis in Surgical Pathology Specimens ↗

  Journal of Molecular Diagnostics · 2009 · PMID 19324996
  not yet assessed
• Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany ↗

  Orphanet Journal of Rare Diseases · 2009 · PMID 20003372
  not yet assessed
• Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease ↗

  The American Journal of Gastroenterology · 2009 · PMID 19455118
  not yet assessed
• Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease ↗

  The American Journal of Gastroenterology · 2009 · PMID 19455129
  not yet assessed
• Autophagy 16‐like 1 rs2241880 G allele is associated with Crohn’s disease in German children ↗

  Acta Paediatrica · 2009 · PMID 19659808
  not yet assessed
• Identification and Prevention of Genotyping Errors Caused by G-Quadruplex– and i-Motif–Like Sequences ↗

  Clinical Chemistry · 2009 · PMID 19406917
  not yet assessed
• Gene polymorphisms in APOE, NOS3, and LIPC genes may be risk factors for cardiac adverse events after primary CABG ↗

  Journal of Cardiothoracic Surgery · 2009 · PMID 19691831
  not yet assessed
• rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4 and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohn's Disease in the German Population ↗

  The American Journal of Gastroenterology · 2009 · PMID 19262523
  not yet assessed
• Lactic Acidosis in a Newborn With Adrenal Calcifications ↗

  Pediatric Research · 2009 · PMID 19581830
  not yet assessed
• rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4, and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohnʼs Disease in the German Population ↗

  The American Journal of Gastroenterology · 2009
  not yet assessed
• S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections ↗

  Clinical Immunology · 2009
  not yet assessed
• S1120 Fistulas Are Strongly Associated with Concomitant Intestinal Stenosis in Patients with Crohn's Disease ↗

  Gastroenterology · 2009
  not yet assessed
• The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population ↗

  The American Journal of Gastroenterology · 2008 · PMID 18162085
  not yet assessed
• Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation ↗

  Blood · 2008 · PMID 18567837
  not yet assessed
• Prevalence of Germline Mutations in the TTR Gene in a Consecutive Series of Surgical Pathology Specimens With ATTR Amyloid ↗

  The American Journal of Surgical Pathology · 2008 · PMID 18830126
  not yet assessed
• Common 677C→T mutation of the 5,10-methylenetetrahydrofolate reductase gene affects follicular estradiol synthesis ↗

  Fertility and Sterility · 2008 · PMID 18249399
  not yet assessed
• NOD2/CARD15 genotype influences MDP-induced cytokine release and basal IL-12p40 levels in primary isolated peripheral blood monocytes ↗

  Inflammatory Bowel Diseases · 2008 · PMID 18383179
  not yet assessed
• ORIGINAL ARTICLE: Paternal Thrombophilic Gene Mutations Are Not Associated with Recurrent Miscarriage ↗

  American Journal of Reproductive Immunology · 2008 · PMID 18754836
  not yet assessed
• Three German fibrinogen Aα-chain amyloidosis patients with the p.Glu526Val mutation ↗

  Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2008 · PMID 18500534
  not yet assessed
• Potential Cell Sources for Tissue Engineering of Heart Valves in Comparison With Human Pulmonary Valve Cells ↗

  ASAIO Journal · 2008 · PMID 19092668
  not yet assessed
• Genotype–phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease ↗

  Clinical Immunology · 2008 · PMID 18248772
  not yet assessed
• ORIGINAL ARTICLE: Systemic Changes in Haemostatic Balance are not Associated with Increased Levels of Circulating Microparticles in Women with Recurrent Spontaneous Abortion ↗

  American Journal of Reproductive Immunology · 2008 · PMID 18211541
  not yet assessed
• M2041 The First Two Crohn's Disease Susceptibility Loci with a High Degree of Epistasis: PTGER4-Expression-Modulating Polymorphisms in the 5p13.1 Region Enhance ATG16L1-Associated Susceptibility to Crohn's Disease ↗

  Gastroenterology · 2008
  not yet assessed
• M2047 The CARD15 Variants Rs2066843 and Rs2076756 Are New Independent Crohn's Disease Susceptibility Genes Associated with Severe Penetrating Disease Phenotype and Frequent Need for Surgery ↗

  Gastroenterology · 2008
  not yet assessed
• M2042 The Role of Pregnane X Receptor (PXR/NR1i2) Gene Variants in Inflammatory Bowel Disease ↗

  Gastroenterology · 2008
  not yet assessed
• M2046 Significant Differences in the Genetic Susceptibility to Crohn's Disease Between North American and European Populations Regarding Gene Variants in Phox2b, Ncf4, Fam92b, and in the Intergenic Region On Chromosome 10q21.1 ↗

  Gastroenterology · 2008
  not yet assessed
• The CARD15 variants rs2066843 and rs2076756 are new independent Crohn's disease susceptibility genes associated with severe penetrating disease phenotype and frequent need for surgery

  2008
  not yet assessed
• Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): Upregulated colonic IL-17F expression in active Crohnʼs disease and analysis of the IL17F p.His161Arg polymorphism in IBD ↗

  Inflammatory Bowel Diseases · 2007 · PMID 18088064
  not yet assessed
• Linking genetic susceptibility to Crohnʼs disease with Th17 cell function: IL-22 serum levels are increased in Crohnʼs disease and correlate with disease activity and IL23R genotype status ↗

  Inflammatory Bowel Diseases · 2007 · PMID 18022867
  not yet assessed
• rs1004819 Is the Main Disease-Associated IL23R Variant in German Crohn's Disease Patients: Combined Analysis of IL23R, CARD15, and OCTN1/2 Variants ↗

  PLoS ONE · 2007 · PMID 17786191
  not yet assessed
• Gender-specific and menstrual cycle dependent differences in circulating microparticles ↗

  Platelets · 2007 · PMID 17957567
  not yet assessed
• Acylguanidine inhibitors of β-secretase: Optimization of the pyrrole ring substituents extending into the S1 and S3 substrate binding pockets ↗

  Bioorganic & Medicinal Chemistry Letters · 2007 · PMID 18068983
  not yet assessed
• Late‐onset tumor necrosis factor receptor–associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation ↗

  Arthritis & Rheumatism · 2007 · PMID 17665448
  not yet assessed
• Acylguanidine inhibitors of β-secretase: Optimization of the pyrrole ring substituents extending into the S1′ substrate binding pocket ↗

  Bioorganic & Medicinal Chemistry Letters · 2007
  not yet assessed
• Eosinophils are a major intravascular location for tissue factor storage and exposure ↗

  Blood · 2006 · PMID 17003379
  not yet assessed
• Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. ↗

  PubMed · 2006 · PMID 16840027
  not yet assessed
• Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohnʼs disease in clinical practice: Results of a Prospective Study ↗

  Inflammatory Bowel Diseases · 2006 · PMID 17119385
  not yet assessed
• Homozygosity for theCARD15frameshift mutation 1007fs is predictive of early onset of Crohn's disease with ileal stenosis, entero-enteral fistulas, and frequent need for surgical intervention with high risk of re-stenosis ↗

  Scandinavian Journal of Gastroenterology · 2006 · PMID 17101573
  not yet assessed
• Effects of the Common 677C>T Mutation of the 5,10‐Methylenetetrahydrofolate Reductase (MTHFR) Gene on Ovarian Responsiveness to Recombinant Follicle‐Stimulating Hormone ↗

  American Journal of Reproductive Immunology · 2006 · PMID 16533336
  not yet assessed
• Macrophage migration inhibitory factor (MIF) −173G/C promoter polymorphism influences upper gastrointestinal tract involvement and disease activity in patients with Crohnʼs disease ↗

  Inflammatory Bowel Diseases · 2006 · PMID 17206642
  not yet assessed
• Role of the NFKB1 −94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN genes ↗

  Inflammatory Bowel Diseases · 2006 · PMID 16804398
  not yet assessed
• Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease ↗

  Immunogenetics · 2006 · PMID 16485124
  not yet assessed
• Severe TNF Receptor–Associated Periodic Syndrome Due to 2 TNFRSF1A Mutations Including a New F60V Substitution ↗

  Gastroenterology · 2006 · PMID 16401480
  not yet assessed
• Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor ↗

  Biochemical and Biophysical Research Communications · 2006 · PMID 16598859
  not yet assessed
• A nephrotic patient with tumour necrosis factor receptor-associated periodic syndrome, IgA nephropathy and CNS involvement ↗

  Nephrology Dialysis Transplantation · 2006 · PMID 16431885
  not yet assessed
• Genetic variants and the risk of Crohn’s disease: what does it mean for future disease management? ↗

  Expert Opinion on Pharmacotherapy · 2006 · PMID 16872262
  not yet assessed
• A new low‐penetrance TNFRSF1A mutation causing atypical periodic fever ↗

  Pediatrics International · 2006 · PMID 16635178
  not yet assessed
• Shwachman-Diamond-Bodian Syndrome (SBDS): Long-Term Follow-Up of 31 Patients. ↗

  Blood · 2006
  not yet assessed
• The Role of Toll-like Receptor 4 Asp299Gly and Thr399Ile Polymorphisms and CARD15/NOD2 Mutations in the Susceptibility and Phenotype of Crohnʼs Disease ↗

  Inflammatory Bowel Diseases · 2005 · PMID 15973118
  not yet assessed
• Increased Expression of the Chemokine Fractalkine in Crohn's Disease and Association of the Fractalkine Receptor T280M Polymorphism with a Fibrostenosing Disease Phenotype ↗

  The American Journal of Gastroenterology · 2005 · PMID 16405540
  not yet assessed
• Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. ↗

  PubMed · 2005 · PMID 16211719
  not yet assessed
• Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins ↗

  Arthritis & Rheumatism · 2005 · PMID 16255052
  not yet assessed
• D324N single‐nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias ↗

  Genes Chromosomes and Cancer · 2005 · PMID 16320249
  not yet assessed
• Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients – expanding phenotype of CIAS1 related autoinflammatory syndrome ↗

  European Journal Of Haematology · 2004 · PMID 15245511
  not yet assessed
• Impact of Thrombophilic Gene Mutations and Graft-versus-Host Disease on Thromboembolic Complications after Allogeneic Hematopoietic Stem-Cell Transplantation ↗

  Transplantation · 2004 · PMID 15385813
  not yet assessed
• Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low‐penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa ↗

  Arthritis & Rheumatism · 2004 · PMID 15188372
  not yet assessed
• A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy ↗

  PEDIATRICS · 2004 · PMID 15231984
  not yet assessed
• Vasoconstrictively Acting AT1R A1166C and NOS3 4/5 Polymorphisms in Recurrent Spontaneous Abortions (RSA)* ↗

  American Journal of Reproductive Immunology · 2004 · PMID 15212666
  not yet assessed
• Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation ↗

  European Journal of Human Genetics · 2004 · PMID 15657603
  not yet assessed
• Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation ↗

  European Journal of Pediatrics · 2004 · PMID 15365827
  not yet assessed
• Junger Patient mit multiplen pathologischen Frakturen ↗

  Arthritis und Rheuma · 2004
  not yet assessed
• The FLT3-D324N Variant Is a Functionally Silent Polymorphism in the FLT3 Gene and May Be Associated with a Higher Risk for AML. ↗

  Blood · 2004
  not yet assessed
• Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC ↗

  Human Genetics · 2003 · PMID 12658451
  not yet assessed
• T‐cell receptor excision circles: a novel prognostic parameter for the outcome of transplantation in multiple myeloma patients ↗

  British Journal of Haematology · 2003 · PMID 12930391
  not yet assessed
• Insulin-like Growth Factor-I Receptor and PTEN Protein Expression in Endometrial Carcinoma: Correlation With bax and bcl-2 Expression, Microsatellite Instability Status, and Outcome ↗

  American Journal of Clinical Pathology · 2003 · PMID 12866376
  not yet assessed
• Insulin-like Growth Factor-I Receptor and PTEN Protein Expression in Endometrial Carcinoma ↗

  American Journal of Clinical Pathology · 2003
  not yet assessed
• Alterations of the CARD15/NOD2 Gene and the Impact on Management and Treatment of Crohn’s Disease Patients ↗

  Digestive Diseases · 2003 · PMID 14752224
  not yet assessed
• Directed Evolution of High-Affinity Antibody Mimics Using mRNA Display ↗

  Chemistry & Biology · 2003
  not yet assessed
• Uncommon Hematologic Malignancies ↗

  Journal of Clinical Oncology · 2003 · PMID 14615455
  not yet assessed
• Frequency of three common card15/Nod 2 gene mutations and genotype/ phenotype correlation in a single center german IBD cohort ↗

  Gastroenterology · 2003
  not yet assessed
• Contents Vol. 21, 2003 ↗

  Digestive Diseases · 2003
  not yet assessed
• Subject Index Vol. 21, 2003 ↗

  Digestive Diseases · 2003
  not yet assessed
• Author Index Vol. 21, 2003 ↗

  Digestive Diseases · 2003
  not yet assessed
• Directed Evolution of High-Affinity Antibody Mimics Using mRNA Display ↗

  Chemistry & Biology · 2002 · PMID 12204693
  not yet assessed
• Generating addressable protein microarrays with PROfusion covalent mRNA-protein fusion technology. ↗

  PubMed · 2002 · PMID 11788991
  not yet assessed
• Impact of thrombophilic gene mutations on thrombosis risk in patients with gastrointestinal carcinoma ↗

  Cancer · 2002 · PMID 12115343
  not yet assessed
• Microsatellite instability, loss of heterozygosity, and loss of hMLH1 and hMSH2 protein expression in endometrial carcinoma ↗

  Human Pathology · 2002 · PMID 11979377
  not yet assessed
• Generating addressable protein microarrays with PROfusion™ covalent mRNA-protein fusion technology ↗

  PROTEOMICS · 2002
  not yet assessed
• Generating addressable protein microarrays with PROfusion™ covalent mRNA-protein fusion technology ↗

  PROTEOMICS · 2002
  not yet assessed
• Thrombophilic Gene Mutations and Recurrent Spontaneous Abortion: Prothrombin Mutation Increases the Risk in the First Trimester ↗

  American Journal of Reproductive Immunology · 2001 · PMID 11506076
  not yet assessed
• cDNA–Protein Fusions: Covalent Protein–Gene Conjugates for the In Vitro Selection of Peptides and Proteins ↗

  ChemBioChem · 2001 · PMID 11828503
  not yet assessed
• Increased rate of renal transplant failure in patients with the G20210A mutation of the prothrombin gene ↗

  American Journal of Kidney Diseases · 2001 · PMID 11684560
  not yet assessed
• Fluorescence-based Detection of the CETPTaqIB Polymorphism: False Positives with the TaqMan-based Exonuclease Assay Attributable to a Previously Unknown Gene Variant ↗

  Clinical Chemistry · 2001 · PMID 11325888
  not yet assessed
• Phenotypic Correction of Lipid Storage and Growth Arrest in Wolman Disease Fibroblasts by Gene Transfer of Lysosomal Acid Lipase ↗

  Human Gene Therapy · 2001 · PMID 11177564
  not yet assessed
• Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer ↗

  Journal of Hepatology · 2000 · PMID 10735626
  not yet assessed
• Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease ↗

  Journal of Lipid Research · 2000 · PMID 10627498
  not yet assessed
• The number of dichorionic twin pregnancies is reduced by the common MTHFR 677C→T mutation ↗

  Human Reproduction · 2000 · PMID 11098041
  not yet assessed
• An Efficient Synthetic Strategy for the Preparation of Nucleic Acid-Encoded Peptide and Protein Libraries for In Vitro Evolution Protocols ↗

  Molecules · 2000
  not yet assessed
• An Efficient Synthetic Strategy for the Preparation of Nucleic Acid-Encoded Peptide and Protein Libraries for In Vitro Evolution Protocols ↗

  Proceedings of The 4th International Electronic Conference on Synthetic Organic Chemistry · 2000
  not yet assessed
• Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease ↗

  Journal of Lipid Research · 1999 · PMID 9925650
  not yet assessed
• Synthesis of an RNA-Peptide Conjugate by Orthogonal Ligation ↗

  Synlett · 1999
  not yet assessed
• Structural and Kinetic Characterization of an Acyl Transferase Ribozyme ↗

  Journal of the American Chemical Society · 1998 · PMID 11541113
  not yet assessed
• EARLY LOSS OF RENAL TRANSPLANTS IN PATIENTS WITH THROMBOPHILIA ↗

  Transplantation · 1998 · PMID 9565098
  not yet assessed
• Ribozyme-catalysed amino-acid transfer reactions ↗

  Nature · 1996 · PMID 8632803
  not yet assessed
• Increased production of apolipoprotein A-I associated with elevated plasma levels of high-density lipoproteins, apolipoprotein A-I, and lipoprotein A-I in a patient with familial hyperalphalipoproteinemia ↗

  Metabolism · 1993 · PMID 8231838
  not yet assessed
• Human Apolipoprotein A-IV ↗

  1993
  not yet assessed
• Genetic polymorphism of apolipoprotein A-IV ↗

  Current Opinion in Lipidology · 1991
  not yet assessed
• Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms ↗

  Gene · 1988 · PMID 2458299
  not yet assessed
• A novel human myosin alkali light chain is developmentally regulated ↗

  European Journal of Biochemistry · 1988 · PMID 2849544
  not yet assessed
• The down-regulation of the chicken cytoplasmic β actin during myogenic differentiation does not require the gene promoter but involves the 3′ end of the gene ↗

  Nucleic Acids Research · 1988 · PMID 2835747
  not yet assessed
• The complete nucleotide sequences of cDNA clones coding for human myosin light chains 1 and 3 ↗

  Nucleic Acids Research · 1987 · PMID 3601661
  not yet assessed