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1
المؤلفون: Enza Di Leo, Maurizio Averna, Davide Noto, Lucia Magnolo, Angelo B. Cefalù, Stefano Bertolini, Luigi Cattin, Patrizia Tarugi, Sebastiano Calandra
المصدر: Atherosclerosis. 253
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, business.industry, 030220 oncology & carcinogenesis, Medicine, Computational biology, Hypobetalipoproteinemia, Cardiology and Cardiovascular Medicine, business, medicine.disease
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2
المؤلفون: Patrizia Tarugi, Silvana Penco, Giuliano Boscutti, Silvana Pileggi, Paola Conca, Lucia Magnolo, Guido Franceschini, Monica Gomaraschi, Emanuela Boer, Sara Simonelli, Laura Calabresi
المصدر: Journal of Clinical Lipidology
مصطلحات موضوعية: Male, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, Hypobetalipoproteinemias, Phosphatidylcholine-Sterol O-Acyltransferase, chemistry.chemical_compound, HDL subclasses, Lecithin Cholesterol Acyltransferase Deficiency, Medicine, Familial hypobetalipoproteinemia, High-density lipoproteins, Hypoalphalipoproteinemia, Nutrition and Dietetics, biology, medicine.diagnostic_test, Middle Aged, Pedigree, Cholesterol esterification, Italy, Original Article, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, Heterozygote, medicine.medical_specialty, Sterol O-acyltransferase, Mutation, Missense, Familial LCAT deficiency, Lecithin:cholesterol acyltransferase, Internal medicine, Internal Medicine, Humans, cholesterol acyltransferase [Apolipoprotein B, Lecithin], Triglycerides, Apolipoproteins B, Lecithin cholesterol acyltransferase deficiency, Apolipoprotein A-I, Esterification, business.industry, Cholesterol, Cholesterol, HDL, nutritional and metabolic diseases, Sequence Analysis, DNA, medicine.disease, Kidney Transplantation, Endocrinology, chemistry, biology.protein, Hypobetalipoproteinemia, business, Lipid profile, Lipoprotein
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3
المؤلفون: Daniel Figeys, Yuwei Wang, Hu Zhou, Enza Di Leo, Patrizia Tarugi, Shumei Zhong, Lisheng Wang, Shuai Wang, Zemin Yao, Erik F. Yao, C. Jamie McKnight, Antonia Lucia Magnolo, Paola Loria, Michelle Bamji-Mirza, Meenakshi Sundaram
المصدر: Journal of Biological Chemistry. 285:6453-6464
مصطلحات موضوعية: medicine.medical_specialty, Apolipoprotein B, Endoplasmic reticulum, Wild type, Cell Biology, Golgi apparatus, Biology, Biochemistry, symbols.namesake, Endocrinology, Internal medicine, Lipogenesis, medicine, symbols, biology.protein, lipids (amino acids, peptides, and proteins), Secretion, Liver X receptor, Molecular Biology, Lipoprotein
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4
المؤلفون: Elisa Pinotti, Mahjoub Bahri, Jelassi Awatef, Lucia Magnolo, Mohamed Najah, Enza Di Leo, Jgurim Imene, Moncef Fekih, Patrizia Tarugi, Mohamed Naceur Slimane, Sihem Barsaoui, Ines Brini
المصدر: Clinica Chimica Acta. 401:51-56
مصطلحات موضوعية: Adult, Male, Tunisia, Adolescent, Genotype, Apolipoprotein B, Clinical Biochemistry, Nonsense mutation, Biochemistry, Young Adult, Exon, medicine, Humans, Child, Gene, Alleles, Aged, Apolipoproteins B, Aged, 80 and over, ABL, biology, Biochemistry (medical), Intron, Abetalipoproteinemia, Homozygous familial hypobetalipoproteinemia, MTP and APOB gene mutations, Tunisian patients, Infant, nutritional and metabolic diseases, Exons, General Medicine, Middle Aged, medicine.disease, Molecular biology, Introns, Pedigree, Child, Preschool, Hypobetalipoproteinemia, Familial, Apolipoprotein B, Mutation, biology.protein, Female, lipids (amino acids, peptides, and proteins), Hypobetalipoproteinemia, Carrier Proteins
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5
المؤلفون: Maurizio Averna, Davide Noto, Lucia Magnolo, Zemin Yao, Patrizia Tarugi, Sebastiano Calandra, Angelo B. Cefalù
المساهمون: Magnolo, L., Noto, D., Cefalù, A., Averna, M., Calandra, S., Yao, Z., Tarugi, P.
مصطلحات موضوعية: 0301 basic medicine, Settore MED/09 - Medicina Interna, Time Factors, Apolipoprotein B-48 secretion, Apolipoprotein B, Mutant, DNA Mutational Analysis, Apolipoprotein B mutation, Apolipoprotein B-48 secretion, Hypobetalipoproteinemia, Proteasomal degradation, 030204 cardiovascular system & hematology, medicine.disease_cause, Endoplasmic Reticulum, Hypobetalipoproteinemias, chemistry.chemical_compound, 0302 clinical medicine, Proteasomal degradation, Proteolysi, Sequence Deletion, Mutation, biology, Medicine (all), Transfection, Proteasome Inhibitor, Phenotype, Biochemistry, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proteasome Inhibitors, Human, Heterozygote, Proteasome Endopeptidase Complex, Time Factor, Cycloheximide, digestive system, Cell Line, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Secretion, Genetic Predisposition to Disease, Molecular Biology, Endoplasmic reticulum, nutritional and metabolic diseases, Cell Biology, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, Proteolysis, biology.protein, Hypobetalipoproteinemia, Apolipoprotein B mutation, Apolipoprotein B-48
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6
المؤلفون: Neslihan Önenli Mungan, Lucia Magnolo, Patrizia Tarugi, Enza Di Leo, Deniz Kor, Isabella Bernardis, Gokhan Tumgor, Berna Şeker Yılmaz, Lucia Artuso
المساهمون: Çukurova Üniversitesi
المصدر: Clinica chimica acta; international journal of clinical chemistry. 452
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Very low-density lipoprotein, Hepatic steatosis, Apolipoprotein B, Turkey, Clinical Biochemistry, Mutation, Missense, digestive system, Biochemistry, Apolipoprotein B, Familial hypobetalipoproteinemia, Hepatic steatosis, Lipid malabsorption, Missense mutation, Polymerase Chain Reaction, Microsomal triglyceride transfer protein, 03 medical and health sciences, Internal medicine, medicine, Missense mutation, Humans, Familial hypobetalipoproteinemia, Apolipoproteins B, Genetics, biology, Biochemistry (medical), Abetalipoproteinemia, nutritional and metabolic diseases, Infant, General Medicine, Sequence Analysis, DNA, medicine.disease, Pedigree, Lipid malabsorption, 030104 developmental biology, Endocrinology, Hypobetalipoproteinemia, Familial, Apolipoprotein B, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia, Chylomicron retention disease, Chylomicron
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7
المؤلفون: İlyas Okur, Tuba F. Eminoglu, Enza Di Leo, Leyla Tümer, Musa Gökalp Bolkent, Patrizia Tarugi, Lucia Magnolo
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Apolipoprotein B, Adolescent, Truncated apoB, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Liver steatosis, Familial hypobetalipoproteinemia, Hypocholesterolemia, Internal medicine, Internal Medicine, medicine, Humans, Child, Nutrition and Dietetics, biology, business.industry, Homozygote, Abetalipoproteinemia, nutritional and metabolic diseases, medicine.disease, Endocrinology, Codon, Nonsense, Hypobetalipoproteinemia, Familial, Apolipoprotein B, Apolipoprotein B-100, biology.protein, Female, lipids (amino acids, peptides, and proteins), Hypobetalipoproteinemia, Steatosis, Cardiology and Cardiovascular Medicine, business, Apolipoprotein B-48, Chylomicron, Lipoprotein
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8
المؤلفون: Patrizia Tarugi, P. Valdivielso, J.M. Mesa-Latorre, R. Martín-Morales, P. González-Santos, Lucia Magnolo, E. di Leo, J.D. García-Díaz, P. Saavedra-Vallejo
المصدر: Gene. 531(1)
مصطلحات موضوعية: Proband, Adult, Male, Heterozygote, Apolipoprotein B, White People, Hypobetalipoproteinemias, Young Adult, Genetics, medicine, Humans, Apo B truncations, Familial hypobetalipoproteinemia, Steatorrhea, fatty liver, APOB, MTTP, PCSK9, SAR1B genes, Intestinal Mucosa, Aged, Apolipoproteins B, biology, Point mutation, Fatty liver, General Medicine, SAR1B, medicine.disease, Intestines, Hypocholesterolemia, Spain, Mutation, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia
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9
المؤلفون: Ines Brini, Sebastiano Calandra, Elisa Pinotti, Neji M. Gueddiche, Patrizia Tarugi, Tatiana Fancello, Mohamed Najah, Naceur M. Slimene, Lucia Magnolo, Enza Di Leo
المصدر: Gene. 512(1)
مصطلحات موضوعية: Adult, Candidate gene, Tunisia, Adolescent, Tunisian children, Sar1B gene, medicine.disease_cause, Hypobetalipoproteinemias, Exon, Consanguinity, Young Adult, Malabsorption Syndromes, Genetics, medicine, Humans, Child, Angiopoietin-Like Protein 3, Apolipoproteins B, Monomeric GTP-Binding Proteins, Mutation, biology, Base Sequence, Serine Endopeptidases, Intron, MTTP gene, Abetalipoproteinemia, Chylomicron retention disease, Infant, General Medicine, SAR1B, Middle Aged, medicine.disease, Lipids, Angiopoietin-like Proteins, Child, Preschool, biology.protein, Female, Hypobetalipoproteinemia, Proprotein Convertases, Proprotein Convertase 9, Carrier Proteins, Angiopoietins
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10
المؤلفون: Patrizia Tarugi, Sara Simonelli, R. Sallo, Guido Franceschini, Diego Ardigò, Sebastiano Calandra, Laura Calabresi, Stefano Bertolini, Elda Favari, Franco Bernini, Livia Pisciotta, Tatiana Fancello, Ivana Zavaroni, Maria Pia Adorni, Lucia Magnolo
المصدر: Circulation. Cardiovascular genetics. 5(1)
مصطلحات موضوعية: Apolipoprotein E, Male, medicine.medical_specialty, Apolipoprotein B, Cell Line, Hypobetalipoproteinemias, cholesterol HDL cholesterol LDL-C Angiopoietin like-3 protein Combined hypolipidemia, chemistry.chemical_compound, Mice, Internal medicine, Genetics, medicine, Animals, Humans, Hypoalphalipoproteinemia, Genetics (clinical), Triglycerides, Aged, Angiopoietin-Like Protein 3, Aged, 80 and over, Hypoalphalipoproteinemias, Lipoprotein lipase, biology, Cholesterol, Macrophages, Middle Aged, medicine.disease, Pedigree, Lipoproteins, LDL, Endocrinology, Angiopoietin-like Proteins, chemistry, ABCA1, Mutation, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia, Cardiology and Cardiovascular Medicine, Lipoproteins, HDL, Angiopoietins, Lipoprotein
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11
المؤلفون: Scipione Martini, Francesco Pucci, Patrizia Tarugi, Nicola Vitturi, Lucia Magnolo, Claudio Rabacchi, A. Wunsch, Stefano Bertolini, I. Cortella, Sebastiano Calandra, Enza Di Leo, Elisa Pinotti
مصطلحات موضوعية: Male, Apolipoprotein B, Adolescent, Endocrinology, Diabetes and Metabolism, RNA Splicing, medicine.disease_cause, Biochemistry, Familial hypobetalipoproteinemia, APOB gene, Splice site mutations, APOB minigenes, Truncated apoBs, Exon, Endocrinology, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Molecular Biology, Apolipoproteins B, Mutation, Splice site mutation, biology, Intron, nutritional and metabolic diseases, Exons, medicine.disease, Molecular biology, Hypobetalipoproteinemia, Familial, Apolipoprotein B, RNA splicing, COS Cells, biology.protein, lipids (amino acids, peptides, and proteins), Hypobetalipoproteinemia, Minigene
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12
المؤلفون: Patrizia Tarugi, Monica Gomaraschi, Scipione Martini, Elisa Pinotti, Angelo B. Cefalù, Giovanni Battista Vigna, Laura Calabresi, Maurizio Averna, Davide Noto, Lucia Magnolo
المساهمون: CEFALÙ, AB, NOTO, D, MAGNOLO, L, PINOTTI, E, GOMARASCHI, M, MARTINI, S, VIGNA, GB, CALABRESI, L, TARUGI, P, AVERNA M
مصطلحات موضوعية: Male, Hyperlipoproteinemias, Messenger, DNA Mutational Analysis, medicine.disease_cause, Exon, Familial hyperalphalipoproteinemia, Chlorocebus aethiops, CETP activity, CETP gene mutations, HDL size, Adolescent, Adult, Aged, Animals, Biomarkers, COS Cells, Cercopithecus aethiops, Cholesterol Ester Transfer Proteins, Cholesterol, HDL, European Continental Ancestry Group, Female, Humans, Italy, Middle Aged, Phenotype, RNA, Messenger, Transfection, Up-Regulation, Young Adult, Mutation, Cardiology and Cardiovascular Medicine, Genetics, Transition (genetics), biology, Cholesterol, RNA splicing, lipids (amino acids, peptides, and proteins), HDL, Socio-culturale, White People, Cholesterylester transfer protein, medicine, Gene, Intron, cetp, carbohydrates (lipids), biology.protein, RNA, mutation, Minigene
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13
المؤلفون: S Carmo Pereira, Patrizia Tarugi, Mafalda Bourbon, Lucia Magnolo, E. di Leo, Sebastiano Calandra, Marco Bertolotti, Mario Pirisi
المصدر: Clinical genetics. 74(3)
مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, Apolipoprotein B, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Biology, Chronic liver disease, Compound heterozygosity, digestive system, Exon, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Apolipoproteins B, Aged, 80 and over, Base Sequence, Fatty liver, Homozygote, nutritional and metabolic diseases, Genetic Variation, Middle Aged, medicine.disease, APOB gene, Fat malabsorption, Homozygous FHBL, Liver disease, Pedigree, Endocrinology, Phenotype, Hypobetalipoproteinemia, Familial, Apolipoprotein B, Mutation, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia
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14
المؤلفون: Patrizia Tarugi, Angelo B. Cefalù, Sebastiano Calandra, Stefano Bertolini, Enza Di Leo, Maurizio Averna, Davide Noto, Lucia Magnolo, Luigi Cattin
المساهمون: TARUGI, P, AVERNA, M, DI LEO, E, CEFALU, AB, NOTO, D, MAGNOLO, L, CATTIN, L, BERTOLINI, S, CALANDRA, S, Tarugi, P., Averna, M., Di Leo, E., Cefalù, A. B., Noto, D., Magnolo, L., Cattin, Luigi, Bertolini, S., Calandra, S.
المصدر: Atherosclerosis. 195(2)
مصطلحات موضوعية: Male, Candidate gene, Settore MED/09 - Medicina Interna, Apolipoprotein B, Genotype, Locus (genetics), Biology, Polymorphism, Single Nucleotide, PCSK9 Gene, medicine, Humans, Familial hypobetalipoproteinemia, Genetic Testing, APOB gene, Apolipoproteins B, Genetics, PCSK9, Abetalipoproteinemia, Chylomicron retention disease, medicine.disease, European Network for Inherited Dyslipidemia (ENID), Phenotype, PCSK9 gene, Hypobetalipoproteinemia, Familial, Apolipoprotein B, Mutation, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hypobetalipoproteinemia, MTP gene, Cardiology and Cardiovascular Medicine, Carrier Proteins, uropean Network for Inherited Dyslipidemia (ENID), European Network for Inherited Dyslipidemia (ENID), Familial hypobetalipoproteinemia, Abetalipoproteinemia, Chylomicron retention disease
وصف الملف: ELETTRONICO
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15
المؤلفون: Maria Luisa Simone, Patrizia Tarugi, E. Di Leo, Antonia Lucia Magnolo
المصدر: Atherosclerosis. 235:e58
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, medicine, In patient, Hypobetalipoproteinemia, Cardiology and Cardiovascular Medicine, medicine.disease, business, Gastroenterology, Fat malabsorption
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16594 NOVEL MUTATIONS IN SAR1B AND MTP GENES IN CHYLOMICRON RETENTION DISEASE AND ABETALIPOPROTEINEMIA
المؤلفون: Patrizia Tarugi, Antonia Lucia Magnolo, T. Fancello, N. Slimene, M. Najah, E. Di Leo, A. Jelassi
المصدر: Atherosclerosis Supplements. 12:125
مصطلحات موضوعية: Internal Medicine, Cancer research, medicine, biology.protein, Abetalipoproteinemia, General Medicine, SAR1B, Biology, Cardiology and Cardiovascular Medicine, medicine.disease, Gene, Chylomicron retention disease
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17
المؤلفون: Lucia Magnolo, Zemin Yao, Patrizia Tarugi, T. Fancello, E. di Leo, S. Zhong, Elisa Pinotti
المصدر: Nutrition, Metabolism and Cardiovascular Diseases. 19:S14
مصطلحات موضوعية: Genetics, Nonsynonymous substitution, Nutrition and Dietetics, Apob gene, Endocrinology, Diabetes and Metabolism, Familial Hypobetalipoproteinemia, Medicine (miscellaneous), Biology, Cardiology and Cardiovascular Medicine