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المصدر: Journal of Lipid Research, Vol 62, Iss, Pp 100139-(2021)
Journal of Lipid Researchمصطلحات موضوعية: RFLP, restriction fragment length polymorphism, DFH, definite FH, clinical utility, polygenic, LLT, lipid-lowering therapy, Familial hypercholesterolemia, CHD, coronary heart disease, PFH, possible FH, Biochemistry, ACGS, UK Association for Clinical Genomic Science, SNP score, Endocrinology, Thematic Review Series: The Science of FH, Index case, variants of unknown significance, Exome sequencing, Genetics, medicine.diagnostic_test, LDLR, LDL receptor, SSCP, single-strand conformation polymorphism, PRS, polygenic risk score, WES, whole exome sequencing, index case, WGS, whole genome sequencing, Locus (genetics), QD415-436, Biology, FH, familial hypercholesterolemia, Hyperlipoproteinemia Type II, monogenic, VUS, variants of unknown significance, medicine, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, coronary heart disease, CT, cascade testing, LDL-C, Genetic testing, PCSK9, dHPLC, denaturing HPLC, Thematic Review Series, ACMG, American College of Medical Genetics and Genomics, Single-strand conformation polymorphism, Cell Biology, MLPA, multiplex ligation-dependent probe amplification, medicine.disease, Lp(a), lipoprotein (a), NGS, next-generation sequencing, TC, total cholesterol, LDLR, next-generation sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162a286e87f241aac3d827ed099416e6
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المؤلفون: Peter J. Späth, E. Rusicke, Christoph Bucher, Alvaro Blanch, Olga Roche, Emanuela Pappalardo, István Karádi, Marco Cicardi, Mathias Juers, Inmaculada Martinez-Saguer, Roberto Giacomelli, Pál Novák Kaposi, Anthony J. Castaldo, Erik Waage Nielsen, Roberto Perricone, Arianna Kitzinger, Kalman Fay, Emel Aygören-Pürsün, Carlo Perricone, Christian Drouet, George Füst, Beáta Visy, C. Erik Hack, Vincenzo Penna, Hilary Longhurst, Tímea Kollár, George Harmat, István Nagy, Nicole Monnier, Éva Németh, Jan H. Nuijens, Bettina Fischer, Ursula Rauch, Peter L. Lakatos, Caterina De Carolis, Caroline O'Grady, Edit Takács, Margarita López-Trascasa, Henriette Farkas, Albrecht Gröner, George Szendei, Lilian Varga, Alvin E. Davis, Lennart Truedsson, Béla Fekete, John Jakenfelds, Andrea Zanichelli, Wolfhart Kreuz, Kayla Williams, Lajos Kalmar, Lorenza C. Zingale, Karen Binkley, Christiane Duponchel, Laurence Bouillet, Attila Tordai, Luigi Fontana, Angelo Agostoni, Konrad Bork
المصدر: The Journal of Allergy and Clinical Immunology
مصطلحات موضوعية: APP, Aminopeptidase P, C1, First component of the complement cascade, C4, Fourth component of the complement cascade, MFO, Multifollicular ovary, C1 esterase inhibitor, C1nh, Murine C1 esterase inhibitor gene, MBL, Mannan-binding lectin, NAT, Nucleic acid amplification technique, rtPA, Recombinant tissue-type plasminogen activator, Ecallantide, Icatibant, human SERPING1 protein, Gonadal Steroid Hormones, PCO, Polycystic ovary, AT2, Angiotensin II, Contraceptives, OMIM, Online Mendelian Inheritance in Man (database), rhC1-INH, Recombinant human C1 esterase inhibitor, B19V, Parvovirus B19, FFP, Fresh frozen plasma, LH, Luteinizing hormone, UK, United Kingdom, BVDV, Bovine viral diarrhea virus, FF, (Ovarian) follicular fluid, Complement C1 Inhibitor Protein, MGUS, Monoclonal gammopathies of undetermined significance, AAEE, (Italian) Voluntary Association for the Study, Therapy, and Fight Against Hereditary Angioedema, Oral, medicine.medical_specialty, Hereditary angioneurotic edema, Immunology, HANE, HAE-I, Hereditary angioedema type I, Article, PCT, Primary care trust, Cmax, Maximum concentration, HAV, Hepatitis A virus, NEP, Neutral endopeptidase, Humans, chemically induced angioedema, PREHAEAT, Novel Methods for Predicting, Preventing, and Treating Attacks in Patients with Hereditary Angioedema, Intensive care medicine, HbsAg, Hepatitis B surface antigen, MASP, Mannose-binding protein associated serine protease, medicine.disease, hereditary angioneurotic edema, HANO, C1NH, Human C1 esterase inhibitor gene, Settore MED/16 - Reumatologia, C3, Third component of the complement cascade, chemistry, Mutation, CPV, Canine parvovirus, C1-INH, C1 esterase inhibitor, CCM, Chemical cleavage of mismatches, Complement C1 Inactivator Proteins, angioneurotic edema, C1-inhibitor, chemistry.chemical_compound, CPMP, Committee for Proprietary Medicinal Products, AAE, acquired angioedema, angioedema, C1-INH, HAE, hereditary angioedema, HBV, Hepatitis B virus, BMD, Bone mineral density, Immunology and Allergy, PRV, Pseudorabies virus, Mr, Molecular mass, biology, HAE-II, Hereditary angioedema type II, Estrogen Replacement Therapy, Polycystic ovary, CH50, Total hemolytic complement, 50% cell lysis, HUVS, Hypocomplementemic urticaria-vasculitis syndrome, Hereditary angioedema, medicine.symptom, medicine.drug, AAE, Acquired angioedema, DHPLC, Denaturing HPLC, HAE, Hereditary angioedema, HCV, Hepatitis C virus, OC, Oral contraceptive, HK, High molecular weight kininogen, medicine, Angioedema, Serpins, business.industry, tPA, Tissue-type plasminogen activator, C5, Fifth component of the complement cascade, ACE, Angiotensin-converting enzyme, SSCA, Single-stranded conformational analysis, HRT, Hormone replacement therapy, Angiotensin II, SHBG, Sex hormone binding globulin, biology.protein, HAEA, US HAE Association, C2, Second component of the complement cascade, business, Contraceptives, Oral
