Found: 67
Select item for more details and to access through your institution.
The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn’s disease independent of the IL23R genotype.
- Published in:
- Journal of Gastroenterology, 2010, v. 45, n. 7, p. 721, doi. 10.1007/s00535-010-0231-7
- By:
- Publication type:
- Article
Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Categorizing diffuse parenchymal lung disease in children.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 171, doi. 10.1186/s13023-014-0171-z
- By:
- Publication type:
- Article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A new low-penetrance TNFRSF1A mutation causing atypical periodic fever.
- Published in:
- Pediatrics International, 2006, v. 48, n. 2, p. 169, doi. 10.1111/j.1442-200X.2006.02194.x
- By:
- Publication type:
- Article
Alterations of the CARD15/NOD2 Gene and the Impact on Management and Treatment of Crohn's Disease Patients.
- Published in:
- Digestive Diseases, 2003, v. 21, n. 4, p. 339, doi. 10.1159/000075357
- By:
- Publication type:
- Article
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.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0116044
- By:
- Publication type:
- Article
The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0108503
- By:
- Publication type:
- Article
Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069757
- By:
- Publication type:
- Article
CEACAM6 Gene Variants in Inflammatory Bowel Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019319
- By:
- Publication type:
- Article
The NOD2 Single Nucleotide Polymorphisms rs2066843 and rs2076756 Are Novel and Common Crohn's Disease Susceptibility Gene Variants.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014466
- By:
- Publication type:
- Article
Evidence for STAT4 as a Common Autoimmune Gene: rs7574865 Is Associated with Colonic Crohn's Disease and Early Disease Onset.
- Published in:
- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010373
- By:
- Publication type:
- Article
The Cannabinoid 1 Receptor (CNR1) 1359 G/A Polymorphism Modulates Susceptibility to Ulcerative Colitis and the Phenotype in Crohn's Disease.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009453
- By:
- Publication type:
- Article
Ein Fall von Muckle‐Wells‐Syndrom mit einer neuen NLRP3‐Mutation.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 10, p. 1250, doi. 10.1111/ddg.13640_g
- By:
- Publication type:
- Article
A Case of Muckle‐Wells Syndrome due to novel NLRP3 mutation.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 10, p. 1250, doi. 10.1111/ddg.13640
- By:
- Publication type:
- Article
Generating addressable protein microarrays with PROfusion™ covalent mRNA-protein fusion technology.
- Published in:
- Proteomics, 2002, v. 2, n. 1, p. 48, doi. 10.1002/1615-9861(200201)2:1<48::AID-PROT48>3.0.CO;2-I
- By:
- Publication type:
- Article
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.
- Published in:
- Human Genetics, 2003, v. 113, n. 1, p. 92, doi. 10.1007/s00439-003-0938-0
- By:
- Publication type:
- Article
Ultrafast Dynamics of the Indoline Dye D149 on Mesoporous ZnO and Al<sub>2</sub>O<sub>3</sub> Thin Films.
- Published in:
- Zeitschrift für Physikalische Chemie, 2015, v. 229, n. 10/12, p. 1907, doi. 10.1515/zpch-2015-0604
- By:
- Publication type:
- Article
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 510, doi. 10.1038/sj.ejhg.5201352
- By:
- Publication type:
- Article
Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 9/10, p. 991, doi. 10.1515/jpem-2012-0103
- By:
- Publication type:
- Article
Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.
- Published in:
- Cardiovascular Diabetology, 2006, v. 5, p. 11, doi. 10.1186/1475-2840-5-11
- By:
- Publication type:
- Article
Psoralen photo-crosslinked mRNA–puromycin conjugates: a novel template for the rapid and facile preparation of mRNA–protein fusions.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 18, p. e83, doi. 10.1093/nar/28.18.e83
- By:
- Publication type:
- Article
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.
- Published in:
- Arthritis Research & Therapy, 2013, v. 15, n. 3, p. 1, doi. 10.1186/ar4237
- By:
- Publication type:
- Article
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
- Published in:
- Arthritis Research & Therapy, 2011, v. 13, n. 6, p. 3526, doi. 10.1186/ar3526
- By:
- Publication type:
- Article
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.
- Published in:
- European Journal of Haematology, 2004, v. 73, n. 2, p. 123, doi. 10.1111/j.1600-0609.2004.00270.x
- By:
- Publication type:
- Article
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.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0236421
- By:
- Publication type:
- Article
Impact of thrombophilic gene mutations on thrombosis risk in patients with gastrointestinal carcinoma.
- Published in:
- Cancer (0008543X), 2002, v. 94, n. 12, p. 3120, doi. 10.1002/cncr.10590
- By:
- Publication type:
- Article
Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics.
- Published in:
- Rheumatology, 2009, v. 48, n. 8, p. 987, doi. 10.1093/rheumatology/kep140
- By:
- Publication type:
- Article
12′-Apo-β-carotin-12′-al: ein ultraschnelles 'Spionage'-Molekül für die Untersuchung lokaler Wechselwirkungen in ionischen Flüssigkeiten.
- Published in:
- Angewandte Chemie, 2010, v. 122, n. 12, p. 2277, doi. 10.1002/ange.200906046
- By:
- Publication type:
- Article
The number of dichorionic twin pregnancies is reduced by the common MTHFR 677C-->T mutation.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Peripheral Hole Acceptor Moieties on an Organic Dye Improve Dye‐Sensitized Solar Cell Performance.
- Published in:
- Advanced Science, 2015, v. 2, n. 11, p. 1, doi. 10.1002/advs.201500174
- By:
- Publication type:
- Article
Mit Blended Therapy gegen Post-COVID.
- Published in:
- pt Zeitschrift für Physiotherapeuten, 2024, v. 76, n. 10, p. 50
- By:
- Publication type:
- Article
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation,
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
- Published in:
- ISRN Pediatrics, 2011, p. 1, doi. 10.5402/2011/676549
- By:
- Publication type:
- Article
A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 1, p. 41, doi. 10.1159/000335929
- By:
- Publication type:
- Article
D324N single‐nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 4, p. 332, doi. 10.1002/gcc.20294
- By:
- Publication type:
- Article
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 183, doi. 10.2119/molmed.2015.00244
- By:
- Publication type:
- Article
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 183, doi. 10.2119/molmed.2015.00244
- By:
- Publication type:
- Article
Amyloid in endomyocardial biopsies.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Three German fibrinogen Aα-chain amyloidosis patients with the p.Glu526Val mutation.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2008, v. 453, n. 1, p. 25, doi. 10.1007/s00428-008-0619-4
- By:
- Publication type:
- Article
Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3010, doi. 10.1002/art.39784
- By:
- Publication type:
- Article
Urticaria, Fever, and Hypofibrinogenemia.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 5, p. 1377, doi. 10.1002/art.38345
- By:
- Publication type:
- Article
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
- Published in:
- Pediatric Rheumatology, 2015, v. 11, p. 1, doi. 10.1186/s12969-015-0041-9
- By:
- Publication type:
- Article
T-cell receptor excision circles: a novel prognostic parameter for the outcome of transplantation in multiple myeloma patients.
- Published in:
- British Journal of Haematology, 2003, v. 122, n. 5, p. 795, doi. 10.1046/j.1365-2141.2003.04482.x
- By:
- Publication type:
- Article
Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 122, doi. 10.1002/humu.22169
- By:
- Publication type:
- Article
Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease.
- Published in:
- Immunogenetics, 2006, v. 58, n. 2/3, p. 99, doi. 10.1007/s00251-005-0073-2
- By:
- Publication type:
- Article
Leptin Gene (TTTC)<sub>n</sub> Microsatellite Polymorphism as well as Leptin Receptor R223Q and PPARγ2 P12A Substitutions are not Associated with Hypertensive Disorders in Pregnancy.
- Published in:
- American Journal of Reproductive Immunology, 2010, v. 63, n. 4, p. 310, doi. 10.1111/j.1600-0897.2009.00799.x
- By:
- Publication type:
- Article