P. Lohse

F. Heinen, A. Blaschek, T. Kümpfel, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Categorizing diffuse parenchymal lung disease in children

M. Griese, M. Kappler, P. Lohse, 2015, Orphanet Journal of Rare Diseases.

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

B. Müller-Myhsok, S. Ripke, S. Brand, 2009, The American Journal of Gastroenterology.

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

U. Jeschke, U. Markert, P. Lohse, 2010, American journal of reproductive immunology.

Amyloid in endomyocardial biopsies

P. Schnabel, C. Röcken, R. Kandolf, 2010, Virchows Archiv.

ORIGINAL ARTICLE: Systemic Changes in Haemostatic Balance are not Associated with Increased Levels of Circulating Microparticles in Women with Recurrent Spontaneous Abortion

R. Nieuwland, K. Friese, C. Thaler, 2008, American journal of reproductive immunology.

bloodjournal.hematologylibrary.org at PENN STATE UNIVERSITY on February 23, 2013. For personal use only.

B. Engelmann, S. Albrecht, K. Bidzhekov, 2006 .

Genetic polymorphisms of TP53 and FAS promoter modulate the progression of coronary artery disease after coronary artery bypass grafting: a gender-specific view

B. Reichart, S. Eifert, A. Beiras-Fernandez, 2011, Inflammation Research.

Three German fibrinogen Aα-chain amyloidosis patients with the p.Glu526Val mutation

C. Röcken, U. Hegenbart, S. Schönland, 2008, Virchows Archiv.

Multiple sclerosis–like lesions and type I interferon signature in a patient with RVCL

B. Ertl-Wagner, R. Hohlfeld, E. Schuh, 2014, Neurology: Neuroimmunology & Neuroinflammation.

Expression of Circulatory Dendritic Cells and Regulatory T-Cells in Patients With Different Subsets of Coronary Artery Disease

M. Weis, P. Lohse, S. Kofler, 2011, Journal of cardiovascular pharmacology.

Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment

M. Herold, C. Dejaco, P. Lohse, 2007, Annals of the rheumatic diseases.

Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.

D. Rader, U. Tietge, P. Lohse, 2001, Human gene therapy.

R. Hohlfeld, J. Havla, T. Kümpfel, 2013, The Journal of Rheumatology.

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis

F. Heinen, R. Hohlfeld, I. Borggraefe, 2010, Multiple sclerosis.

Concurrent TNFRSF 1 A R 92 Q and pyrin E 230 K mutations in a child with multiple sclerosis

F. Heinen, R. Hohlfeld, I. Borggraefe, 2010 .

TNFRSF1A R92Q MUTATION IN ASSOCIATION WITH A MULTIPLE SCLEROSIS–LIKE DEMYELINATING SYNDROME

R. Hohlfeld, W. Feneberg, F. König, 2008, Neurology.

The role of the selenoprotein S (SELS) gene -105G>A promoter polymorphism in inflammatory bowel disease and regulation of SELS gene expression in intestinal inflammation.

S. Brand, D. Haller, B. Göke, 2007, Tissue antigens.

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment

G. Dannecker, J. Kuemmerle-Deschner, P. Lohse, 2011, Arthritis research & therapy.

Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

D. Foell, P. Tyrrell, J. Kuemmerle-Deschner, 2011, Arthritis and rheumatism.

Neonatal‐onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin‐1 receptor antagonist treatment

O. Witt, I. Foeldvari, P. Lohse, 2006, American journal of medical genetics. Part A.

T‐cell receptor excision circles: a novel prognostic parameter for the outcome of transplantation in multiple myeloma patients

M. Dugas, C. Straka, P. Lohse, 2003, British journal of haematology.

Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution.

R. Hildenbrand, M. Singer, P. Lohse, 2006, Gastroenterology.

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome

S. Plontke, A. Koitschev, P. Tyrrell, 2015, Pediatric Rheumatology.

Risk factors for severe Muckle-Wells syndrome.

A. Koitschev, P. Tyrrell, J. Haas, 2010, Arthritis and rheumatism.

Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.

G. Dannecker, P. Lohse, T. Hospach, 2005, Arthritis and rheumatism.

Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response.

J. Malley, P. Fraunberger, D. Hartl, 2006, European cytokine network.

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

T. Niehues, R. Kries, P. Lohse, 2012, Rheumatology International.

Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics.

R. von Kries, T. Niehues, P. Lohse, 2010, Klinische Padiatrie.

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics.

R. von Kries, T. Niehues, P. Lohse, 2009, Rheumatology.

Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS).

P. Lohse, G. Horneff, A. Rhouma, 2013, Clinical and experimental rheumatology.

Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever

D. Foell, H. von Bernuth, J. Haas, 2016, Arthritis & rheumatology.

of-function mutations within the MEFV gene encoding pyrin lead to overpro- duction of pro-inflammatory cytokines in an apoptosis-associated speck-like protein containing a caspase activation and recruitment domain (ASC)-depend-

D. Foell, J. Klotsche, P. Lohse, 2015 .

A Case of Muckle‐Wells Syndrome due to novel NLRP3 mutation

P. Lohse, M. Metz, K. Krause, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

B. Belohradsky, P. Lohse, E. Renner, 2005, European Journal of Human Genetics.

Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment

H. Morbach, P. Lohse, H. Girschick, 2009, Rheumatology International.

Risk factors for AA amyloidosis in Germany

A. Ho, H. Lorenz, C. Röcken, 2015, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations.

D. Foell, J. Klotsche, P. Lohse, 2015, Clinical and experimental rheumatology.

Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts

P. Lohse, T. Weihmayr, W. Löffler, 2017, Infection.

Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate

J. Poeschl, G. Schmitz, M. Griese, 2011, BMJ Case Reports.

Journal of Cardiothoracic Surgery Open Access Gene Polymorphisms in Apoe, Nos3, and Lipc Genes May Be Risk Factors for Cardiac Adverse Events after Primary Cabg

B. Reichart, G. Nollert, S. Eifert, 2009 .

Successful treatment of PASH syndrome with infliximab, cyclosporine and dapsone

S. Goerdt, M. Leverkus, M. Braun‐Falco, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.

T. Ruzicka, M. Braun‐Falco, P. Lohse, 2012, Journal of the American Academy of Dermatology.

A nephrotic patient with tumour necrosis factor receptor-associated periodic syndrome, IgA nephropathy and CNS involvement.

G. Rudofsky, P. Lohse, V. Schwenger, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects

Isabelle Cournu-Rebeix, Frauke Zipp, Ulman Lindenberger, 2012, Journal of Medical Genetics.

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

C. Poets, G. Liebisch, M. Griese, 2016, Molecular medicine.

Risk of interstitial Lung Disease in Children with a Single R 288 K Variant of aBCa 3

C. Poets, G. Liebisch, M. Griese, 2016 .

Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman–Diamond syndrome

B. Meissner, K. Welte, P. Lohse, 2007, Bone Marrow Transplantation.

in a 2-year-old boy carrying a somatic KIT mutation Successful treatment of progressive cutaneous mastocytosis with imatinib

P. Lohse, B. Binder, P. Sovinz, 2013 .

Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.

C. Urban, P. Lohse, B. Binder, 2008, Blood.

Early loss of renal transplants in patients with thrombophilia.

M. Fischereder, W. Land, D. Schlöndorff, 1998, Transplantation.

Increased rate of renal transplant failure in patients with the G20210A mutation of the prothrombin gene.

B. Krämer, M. Fischereder, W. Land, 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Vasoconstrictively Acting AT1R A1166C and NOS3 4/5 Polymorphisms in Recurrent Spontaneous Abortions (RSA) *

C. Thaler, P. Lohse, T. Buchholz, 2004, American journal of reproductive immunology.

Lactic Acidosis in a Newborn With Adrenal Calcifications

M. Zeviani, S. Seneca, W. Lissens, 2009, Pediatric Research.

Prevalence of Germline Mutations in the TTR Gene in a Consecutive Series of Surgical Pathology Specimens With ATTR Amyloid

T. Todorov, C. Röcken, U. Hegenbart, 2009, The American journal of surgical pathology.

Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.

R. Hohlfeld, W. Feneberg, T. Kümpfel, 2007, Arthritis and rheumatism.

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.

J. Diebold, D. Mayr, P. Lohse, 2003, American journal of clinical pathology.

Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages.

C. Thaler, P. Lohse, N. Rogenhofer, 2003, Human reproduction.

Characterization of CSF 2 RA mutation related juvenile pulmonary alveolar proteinosis

M. Gappa, J. Sayer, N. Kiper, 2014 .

Potential Cell Sources for Tissue Engineering of Heart Valves in Comparison With Human Pulmonary Valve Cells

R. Sodian, B. Reichart, S. Daebritz, 2009, ASAIO journal.

Long-term follow-up and treatment of congenital alveolar proteinosis

T. Nicolai, O. Muensterer, M. Griese, 2011, BMC pediatrics.

Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis

H. Krude, G. Schmitz, A. Holzinger, 2010, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Impact of Thrombophilic Gene Mutations and Graft-versus-Host Disease on Thromboembolic Complications after Allogeneic Hematopoietic Stem-Cell Transplantation

E. Holler, R. Andreesen, E. Hiller, 2004, Transplantation.

Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis

U. Lindenberger, H. Hartung, M. Schilling, 2014, neurogenetics.

Urticaria, Fever, and Hypofibrinogenemia

C. Schumann, A. Schulz, K. Debatin, 2014, Arthritis & rheumatology.

Independent replication of STAT3 association with multiple sclerosis risk in a large German case–control sample

Shu-Chen Li, U. Lindenberger, H. Hartung, 2012, neurogenetics.

Neurologische Manifestationen der AGel-Amyloidose (Meretoja-Syndrom) bei einer deutschen Familie

U. Dillmann, W. Henn, K. Fassbender, 2011, Fortschritte der Neurologie-Psychiatrie.

Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation

A. Novosel, P. Lohse, H. Schmidt, 2004, European Journal of Pediatrics.

[Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)].

O. Pech, A. Tannapfel, P. Lohse, 2014, Zeitschrift fur Gastroenterologie.

R116C Mutation of Cationic Trypsinogen in a Turkish Family with Recurrent Pancreatitis Illustrates Genetic Microheterogeneity of Hereditary Pancreatitis

P. Lohse, G. Tautermann, H. Ruebsamen, 2009, Digestion.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

D. Foell, E. Hoppenreijs, S. Holland, 2015, The Journal of allergy and clinical immunology.

A new low‐penetrance TNFRSF1A mutation causing atypical periodic fever

B. Belohradsky, P. Lohse, B. Belohradsky, 2006, Pediatrics international : official journal of the Japan Pediatric Society.

Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q.

M. McDermott, P. Lohse, R. Mirakian, 2004, Rheumatology.

Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: site-directed mutagenesis of Cys227 and Cys236 results in substrate-dependent reduction of enzymatic activity.

P. Lohse, D. Seidel, S. Chahrokh-Zadeh, 1997, Journal of lipid research.

Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.

E. Raglan, A. Brady, K. Rajput, 2013, Clinical dysmorphology.

S680N substitution of the follicle-stimulating hormone receptor is a common polymorphism not associated with spontaneous human twinning.

C. Thaler, U. Hasbargen, P. Lohse, 2001, European journal of medical research.

Divergent effects of the 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness and anti-Müllerian hormone concentrations.

C. Thaler, P. Lohse, U. Noss, 2011, Fertility and sterility.

Autophagy 16‐like 1 rs2241880 G allele is associated with Crohn’s disease in German children

M. Lacher, D. V. von Schweinitz, R. Kappler, 2009, Acta paediatrica.

Association of the interleukin‐23 receptor gene variant rs11209026 with Crohn’s disease in German children

M. Lacher, D. V. von Schweinitz, R. Kappler, 2010, Acta paediatrica.

The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population

B. Müller-Myhsok, T. Mussack, S. Brand, 2008, The American Journal of Gastroenterology.

Increased Expression of the Chemokine Fractalkine in Crohn's Disease and Association of the Fractalkine Receptor T280M Polymorphism with a Fibrostenosing Disease Phenotype

S. Brand, B. Göke, P. Lohse, 2006, The American Journal of Gastroenterology.

Lipocalin-2 Is a Disease Activity Marker in Inflammatory Bowel Disease Regulated by IL-17A, IL-22, and TNF-&agr; and Modulated by IL23R Genotype Status

S. Brand, J. Glas, M. Friedrich, 2015, Inflammatory bowel diseases.

Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL‐22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status

S. Brand, J. Glas, B. Göke, 2008, Inflammatory bowel diseases.

Genome-wide significant association with seven novel multiple sclerosis risk loci

A. Alcina, F. Matesanz, X. Montalban, 2015, Journal of Medical Genetics.

The acid lipase gene family: three enzymes, one highly conserved gene structure.

P. Lohse, D. Seidel, S. Chahrokh-Zadeh, 1997, Journal of lipid research.

The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians

G. Ehninger, S. Krüger, A. Hochhaus, 2006, Leukemia.

CEACAM6 Gene Variants in Inflammatory Bowel Disease

B. Müller-Myhsok, S. Brand, J. Glas, 2010, PloS one.

Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease

S. Brand, B. Göke, P. Lohse, 2006, Immunogenetics.

ORIGINAL ARTICLE: Paternal Thrombophilic Gene Mutations Are Not Associated with Recurrent Miscarriage

K. Friese, C. Thaler, P. Lohse, 2008, American journal of reproductive immunology.

Human Apolipoprotein A-IV

H. Brewer, P. Lohse, 1993 .

NOD2/CARD15 genotype influences MDP‐induced cytokine release and basal IL‐12p40 levels in primary isolated peripheral blood monocytes

T. Mussack, S. Brand, J. Glas, 2008, Inflammatory bowel diseases.

Alterations of the CARD15/NOD2 Gene and the Impact on Management and Treatment of Crohn’s Disease Patients

J. Glas, C. Folwaczny, P. Lohse, 2004, Digestive Diseases.

Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn’s disease

B. Müller-Myhsok, S. Brand, J. Glas, 2005, Gut.

Effects of the Common 677C>T Mutation of the 5,10‐Methylenetetrahydrofolate Reductase (MTHFR) Gene on Ovarian Responsiveness to Recombinant Follicle‐Stimulating Hormone

D. Nagel, C. Thaler, P. Lohse, 2006, American journal of reproductive immunology.

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor

K. Bork, K. Wulff, P. Lohse, 2014, Haemophilia : the official journal of the World Federation of Hemophilia.

Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations.

K. Bork, K. Wulff, P. Lohse, 2013, The American journal of medicine.

Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis

E. Ikonen, G. Schmitz, A. Rolfs, 2010, Clinical genetics.

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

S. Lau, M. Gappa, J. Seidenberg, 2015, European Respiratory Journal.

Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.

B. Göke, C. Spitzweg, C. Leech, 2006, Biochemical and biophysical research communications.

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.

A. Chlumská, S. Maas, M. Elleder, 2000, Journal of hepatology.

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.

G. Besley, S. Maas, M. Elleder, 2000, Journal of lipid research.

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.

A. Sewell, S. Maas, P. Lohse, 1999, Journal of lipid research.

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.

M. Stolte, H. Dienes, U. Drebber, 2005, World journal of gastroenterology.

Cholesteryl Ester Storage Disease: an Easily Missed Diagnosis in Oligosymptomatic Children

S. Koletzko, P. Lohse, R. Ensenauer, 2013, Zeitschrift für Gastroenterologie.

Disease Activity, ANCA, and IL23R Genotype Status Determine Early Response to Infliximab in Patients With Ulcerative Colitis

S. Brand, J. Glas, B. Göke, 2010, The American Journal of Gastroenterology.

The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn’s disease independent of the IL23R genotype

K. Herrmann, S. Brand, J. Glas, 2010, Journal of Gastroenterology.

Genetic variants and the risk of Crohn’s disease: what does it mean for future disease management?

J. Glas, C. Folwaczny, P. Lohse, 2006, Expert opinion on pharmacotherapy.

NOD2 mutations predict the risk for surgery in pediatric-onset Crohn's disease.

M. Lacher, H. Uhlig, D. V. von Schweinitz, 2010, Journal of pediatric surgery.

Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges

R. Goldbach-Mansky, N. Blank, J. Kuemmerle-Deschner, 2017, Arthritis & rheumatology.

Role of the NFKB1 −94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL‐1RN genes

B. Müller-Myhsok, T. Mussack, S. Brand, 2006, Inflammatory bowel diseases.

Role of the novel Th17 cytokine IL‐17F in inflammatory bowel disease (IBD): Upregulated colonic IL‐17F expression in active Crohn's disease and analysis of the IL17F p.His161Arg polymorphism in IBD

B. Müller-Myhsok, S. Brand, J. Glas, 2008, Inflammatory bowel diseases.

Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences.

K. Lackner, H. Rossmann, J. Wenzel, 2009, Clinical chemistry.

Hirschsprung-associated enterocolitis develops independently of NOD2 variants.

M. Lacher, D. V. von Schweinitz, R. Kappler, 2010, Journal of pediatric surgery.

The Role of Toll‐like Receptor 4 Asp299Gly and Thr399Ile Polymorphisms and CARD15/NOD2 Mutations in the Susceptibility and Phenotype of Crohn's Disease

A. Crispin, S. Brand, B. Göke, 2005, Inflammatory bowel diseases.

The Cannabinoid 1 Receptor (CNR1) 1359 G/A Polymorphism Modulates Susceptibility to Ulcerative Colitis and the Phenotype in Crohn's Disease

S. Brand, B. Göke, M. Storr, 2010, PloS one.

Strong overexpression of CXCR3 axis components in childhood inflammatory bowel disease

E. Hoster, S. Brand, J. Glas, 2010, Inflammatory bowel diseases.

Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma

B. Meyer, M. Hempel, J. Gempt, 2013, Acta Neurochirurgica.

The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067

S. Brand, J. Glas, C. Wolf, 2014, PloS one.

Perfusion Bioreactor: A New Pulsatile System for the Perfusion of Tissue Engineered Cardiovascular Prostheses

H. Gulbins, B. Meiser, B. Reichart, 2009 .

rs1004819 Is the Main Disease-Associated IL23R Variant in German Crohn's Disease Patients: Combined Analysis of IL23R, CARD15, and OCTN1/2 Variants

Wolfram Klein, Bertram Müller-Myhsok, Thomas Mussack, 2007, PloS one.

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

C. Röcken, U. Hegenbart, S. Schönland, 2009, The Journal of molecular diagnostics : JMD.

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency

S. Rhodes, M. Durán-Prado, P. Lohse, 2012, Hormone Research in Paediatrics.

Common 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene affects follicular estradiol synthesis.

K. Friese, C. Thaler, P. Lohse, 2009, Fertility and sterility.

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

M. Krumbholz, R. Hohlfeld, A. Blaschek, 2012, Multiple sclerosis.

Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations

B. Ertl-Wagner, M. Krumbholz, R. Hohlfeld, 2015, Neurology: Neuroimmunology & Neuroinflammation.

Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease

B. Müller-Myhsok, S. Brand, J. Glas, 2009, The American Journal of Gastroenterology.

Consistent lowering of clotting factors for the treatment of acute cardiovascular syndromes and hypercoagulability: a different pathophysiological approach.

B. Reichart, P. Lohse, P. Goehring, 2001, Therapeutic apheresis : official journal of the International Society for Apheresis and the Japanese Society for Apheresis.

Impact of thrombophilic gene mutations on thrombosis risk in patients with gastrointestinal carcinoma

E. Hiller, P. Lohse, Detlev Harich, 2002, Cancer.

The +1059G/C polymorphism in the C‐reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease

A. Crispin, S. Brand, B. Göke, 2006, Alimentary pharmacology & therapeutics.

Role of the intracellular receptor domain of gp130 (exon 17) in human inflammatory bowel disease.

G. Vlotides, P. Lohse, M. Sackmann, 2005, World journal of gastroenterology.

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

B. Müller-Myhsok, T. Mussack, S. Brand, 2009, The American Journal of Gastroenterology.

Lung disease caused by ABCA3 mutations

J. Seidenberg, S. Reu, M. Proesmans, 2016, Thorax.

Skeletal scintigraphy indicates disease severity of cardiac involvement in patients with senile systemic amyloidosis.

U. Haberkorn, P. Schnabel, A. Ho, 2013, International journal of cardiology.

Evidence for STAT4 as a Common Autoimmune Gene: rs7574865 Is Associated with Colonic Crohn's Disease and Early Disease Onset

B. Müller-Myhsok, S. Brand, J. Glas, 2010, PloS one.

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

S. Nampoothiri, P. Lohse, K. M. Nair, 2012, Indian journal of human genetics.

A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.

B. Belohradsky, P. Lohse, S. Stojanov, 2004, Pediatrics.

Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II.

A. Holstein, A. Plaschke, E. Egberts, 2005, Scandinavian journal of gastroenterology.

[Intrahepatic cholestasis in pregnancy. What to consider in jaundice and pruritus].

U. Beuers, P. Lohse, S. Kenngott, 2002, MMW Fortschritte der Medizin.

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

O. Soldin, P. Lohse, S. Soldin, 2022, Geburtshilfe und Frauenheilkunde.

Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders

S. Amselem, C. Dodé, B. Copin, 2013, PloS one.

Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).

J. Brunzell, K. Dugi, P. Lohse, 1996, Journal of lipid research.

Fluorescence-based detection of the CETP TaqIB polymorphism: false positives with the TaqMan-based exonuclease assay attributable to a previously unknown gene variant.

P. Lohse, D. Teupser, J. Thiery, 2001, Clinical chemistry.

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

J. Rockstroh, P. Lohse, S. Schlabe, 2016, BMJ Case Reports.

Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: identification of the catalytically active serine, aspartic acid, and histidine residues.

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