المؤلفون: Rosina De Cario, Ada Kura, Samuele Suraci, Alberto Magi, Andrea Volta, Rossella Marcucci, Anna Maria Gori, Guglielmina Pepe, Betti Giusti, Elena Sticchi

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: high-throughput sequencing, next generation sequencing, Sanger sequencing, sequencing validation, discrepancy, allelic drop-out, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.592588/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3641e206503e45978a107d9394dfd834

المؤلفون: Andrea Volta, Gian Franco Gensini, Rosanna Abbate, Francesco Sofi, Dante Chiappino, Alberto Magi, Alessandra Murri, Giuli Jamagidze, Anna Maria Gori, Elena Sticchi, Rossella Marcucci, Betti Giusti, Alice Sereni, Daniele Della Latta

المصدر: Internal and Emergency Medicine. 15:1239-1245

مصطلحات موضوعية: Male, Genotype, Mediterranean diet, Population, Physiology, 030204 cardiovascular system & hematology, Diet, Mediterranean, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Kringles, Risk Factors, Polymorphism (computer science), Bayesian multivariate linear regression, Internal Medicine, Animals, Humans, Medicine, Fish intake, 030212 general & internal medicine, education, Aged, Aged, 80 and over, education.field_of_study, biology, business.industry, Significant difference, Fishes, Lipoprotein(a), Middle Aged, Phenotype, Italy, Emergency Medicine, biology.protein, Female, Gene-Environment Interaction, business, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a489c5c60a9d53758df1a167351bddd8
https://doi.org/10.1007/s11739-020-02276-5

المؤلفون: Arthur Flohr Svendsen, Niels J. Kloosterhuis, Justina C. Wolters, Marieke Smit, Bart van de Sluis, Natalia Loaiza, Merel L. Hartgers, Geesje M. Dallinga-Thie, Mirjam H. Koster, Maaike Winkelmeijer, G. Kees Hovingh, Jan Albert Kuivenhoven, Laurens F. Reeskamp, Hans Jansen, Nicolette C. A. Huijkman, Aldo Grefhorst, Venetia Bazioti, Andrea Volta, J.W. Balder, Antoine Rimbert

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Graduate School, Vascular Medicine, 01 Internal and external specialisms, ACS - Atherosclerosis & ischemic syndromes, Experimental Vascular Medicine, ACS - Diabetes & metabolism, AGEM - Digestive immunity, AGEM - Endocrinology, metabolism and nutrition

المصدر: Arteriosclerosis thrombosis and vascular biology, 40(4), 973-985. LIPPINCOTT WILLIAMS & WILKINS
Arteriosclerosis, thrombosis, and vascular biology, 40(4), 973-985. Lippincott Williams and Wilkins

مصطلحات موضوعية: EXPRESSION, medicine.medical_specialty, Candidate gene, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Biology, Hyperlipoproteinemia type II, MOUSE, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, RARE, Internal medicine, SCORE, medicine, Genetics, Hyperlipoproteinemia Type II, Gene, 030304 developmental biology, AUTOSOMAL-DOMINANT HYPERCHOLESTEROLEMIA, 0303 health sciences, Signal transducing adaptor family member 1, BRDG1, Cholesterol, MUTATIONS, medicine.disease, Atherosclerosis, GENE, Endocrinology, chemistry, LDL - Low density lipoprotein cholesterol, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b049a7bd1b0bb42725686d91351d7f09
http://www.scopus.com/inward/record.url?scp=85082388905&partnerID=8YFLogxK

المؤلفون: Laurens F. Reeskamp, Andrea Volta, G. Kees Hovingh, Linda Zuurbier, Joep C. Defesche, Aldo Grefhorst

المساهمون: Graduate School, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Experimental Vascular Medicine, Vascular Medicine, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Diabetes & metabolism

المصدر: Journal of clinical lipidology, 14(2), 207-217.e7. Elsevier BV

مصطلحات موضوعية: Male, Heterozygote, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, ABCG5, Familial hypercholesterolemia, ABCG8, 030204 cardiovascular system & hematology, medicine.disease_cause, Cohort Studies, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Internal Medicine, Genetics, Humans, Medicine, 030212 general & internal medicine, ATP Binding Cassette Transporter, Subfamily G, Member 5, Mutation, Nutrition and Dietetics, biology, business.industry, PCSK9, ATP Binding Cassette Transporter, Subfamily G, Member 8, Homozygote, Genetic Variation, Middle Aged, medicine.disease, gnomAD, Pedigree, Cholesterol, Phenotype, LDLR, LDL receptor, biology.protein, Next-generation sequencing, Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f9cb276c9fc857f01a94d2b15aef18a
https://pure.amc.nl/en/publications/abcg5-and-abcg8-genetic-variants-in-familial-hypercholesterolemia(7a1dd973-2b88-4aae-a0b6-e3a8bd71d4ed).html

المؤلفون: G. Kees Hovingh, Aldo Grefhorst, Andrea Volta

المساهمون: Amsterdam Cardiovascular Sciences, Vascular Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Diabetes & metabolism, ACS - Atherosclerosis & ischemic syndromes, Internal Medicine

المصدر: Current opinion in lipidology, 29(2), 80-86. Lippincott Williams and Wilkins
Current Opinion in Lipidology, 29(2), 80-86. Lippincott Williams & Wilkins

مصطلحات موضوعية: Apolipoprotein B, Endocrinology, Diabetes and Metabolism, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Pharmacology, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, ANGPTL3, Drug Discovery, Cholesterylester transfer protein, Genetics, Animals, Humans, Medicine, Cholesterol uptake, Molecular Targeted Therapy, 030212 general & internal medicine, Molecular Biology, Hypolipidemic Agents, Nutrition and Dietetics, biology, business.industry, Apolipoprotein C-III, Cell Biology, medicine.disease, Clinical trial, biology.protein, lipids (amino acids, peptides, and proteins), Lipid lowering, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3c4146e6d9ffe36c3f34e5a0ceafa0
https://pure.eur.nl/en/publications/696de35f-fa87-4d5c-848b-ea957c6f976f

المؤلفون: Rosina De Cario, Ada Kura, Samuele Suraci, Alberto Magi, Andrea Volta, Rossella Marcucci, Anna Maria Gori, Guglielmina Pepe, Betti Giusti, Elena Sticchi

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, high-throughput sequencing, next generation sequencing, Sanger sequencing, sequencing validation, discrepancy, allelic drop-out, variant call quality

Relation: https://figshare.com/articles/dataset/Table_1_Sanger_Validation_of_High-Throughput_Sequencing_in_Genetic_Diagnosis_Still_the_Best_Practice_DOCX/13316381

الاتاحة: https://doi.org/10.3389/fgene.2020.592588.s001
https://figshare.com/articles/dataset/Table_1_Sanger_Validation_of_High-Throughput_Sequencing_in_Genetic_Diagnosis_Still_the_Best_Practice_DOCX/13316381

المؤلفون: Laurens F. Reeskamp, Gerard K Hovingh, Linda Zuurbier, Joep C. Defesche, Andrea Volta, Aldo Grefhorst

المصدر: Atherosclerosis. 287:e42-e43

مصطلحات موضوعية: Genetics, biology, business.industry, ABCG5, biology.protein, Medicine, ABCG8, Familial hypercholesterolemia, Cardiology and Cardiovascular Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bdbdb7bae6ad75f8a5fc2dab40a993b7
https://doi.org/10.1016/j.atherosclerosis.2019.06.121

المؤلفون: Merel L. Hartgers, K. Hovingh, M. Winkelmeijer, A. Grehorst, R. Reeskamp, Andrea Volta

المصدر: Atherosclerosis. 287:e79

مصطلحات موضوعية: Ldl cholesterol, Signal transducing adaptor family member 1, Biology, Cardiology and Cardiovascular Medicine, Affect (psychology), Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a14a29911bc65af31c38c9ad2477b195
https://doi.org/10.1016/j.atherosclerosis.2019.06.229

المؤلفون: Elena Sticchi, Rossella Marcucci, Elisa Grifoni, Andrea Volta, Betti Giusti, A.M. Gori

المصدر: Nutrition, Metabolism and Cardiovascular Diseases. 27:e41

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Medicine, Familial hypercholesterolemia, Disease, Cardiology and Cardiovascular Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93c286753ef289d06b2313a6836ede7c
https://doi.org/10.1016/j.numecd.2016.11.115