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1
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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2
المؤلفون: Adele D'Amico, Patrizia Tarugi, Barbara Tappino, Elisa Pinotti, Simona Fecarotta, Tatiana Fancello, Graziella Uziel, Fabio Corsolini, Andrea Dardis, Stefania Zampieri, Camillo Rosano, Sebastiano Calandra, Maja Di Rocco, Mirella Filocamo, Bruno Bembi
المصدر: neurogenetics. 10:229-239
مصطلحات موضوعية: Adult, Models, Molecular, Adolescent, Protein Conformation, DNA Mutational Analysis, Molecular Sequence Data, Mutant, Mutation, Missense, Vesicular Transport Proteins, Biology, Young Adult, Cellular and Molecular Neuroscience, Niemann-Pick C1 Protein, Genotype, Niemann–Pick type C - NPC1 and NPC2 mutational spectrum - Structural modeling - Panther score - Cholesterol processing impairment, Genetics, Humans, Missense mutation, Amino Acid Sequence, Age of Onset, Allele, Child, Gene, Genetics (clinical), Glycoproteins, Membrane Glycoproteins, Point mutation, Intracellular Signaling Peptides and Proteins, Intron, Infant, Niemann-Pick Disease, Type C, Stop codon, Phenotype, Italy, Child, Preschool, Carrier Proteins
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3
المؤلفون: Giovanni Battista Vigna, Stefano Volpato, Franco Bernini, Elda Favari, Cristina Bosi, Patrizia Tarugi, S. Boarini, Giovanni Zuliani, E. Satta, A. Vanini, Elisa Pinotti, Francesca Zimetti, L. Giusto
المصدر: Nutrition, metabolism, and cardiovascular diseases : NMCD. 24(7)
مصطلحات موضوعية: Male, Brachial Artery, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Lipoprotein particle, Carotid Intima-Media Thickness, Cholesterol-efflux capacity, Flow-mediated dilation, HDL, Hyperalphalipoproteinemia, Lipoprotein subfractions, chemistry.chemical_compound, Medicine, Brachial artery, Subclinical infection, Nutrition and Dietetics, biology, Middle Aged, Scavenger Receptors, Class B, Intercellular Adhesion Molecule-1, cardiovascular system, lipids (amino acids, peptides, and proteins), Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Vascular Cell Adhesion Molecule-1, Single-nucleotide polymorphism, Lipid Metabolism, Inborn Errors, Internal medicine, medicine.artery, SNP, Humans, Ankle Brachial Index, Triglycerides, Aged, business.industry, Vascular disease, Cholesterol, Cholesterol, HDL, Cholesterol, LDL, Lipase, medicine.disease, Cholesterol Ester Transfer Proteins, Endocrinology, Logistic Models, chemistry, ABCA1, Case-Control Studies, biology.protein, Endothelium, Vascular, business
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4
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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5
المؤلفون: Mariangela Ditta, Pin Yue, Giovanni Battista Vigna, Elisa Pinotti, Angelo B. Cefalù, Patrizia Tarugi, Francesca Fayer, Sekar Kathiresan, Rossella Spina, Vincenza Valenti, Maurizio Averna, Davide Noto
المساهمون: Noto, D, Cefalù, A, Valenti, V, Fayer, F, Pinotti, E, Ditta, M, Spina, R, Vigna, G, Yue, P, Kathiresan, S, Tarugi, P, Averna, M
المصدر: Arteriosclerosis, thrombosis, and vascular biology. 32(3)
مصطلحات موضوعية: Male, Settore MED/09 - Medicina Interna, Apolipoprotein B, Gene mutation, Compound heterozygosity, medicine.disease_cause, Severity of Illness Index, Hypobetalipoproteinemias, chemistry.chemical_compound, Gene Frequency, 80 and over, Prevalence, Missense mutation, genetics, epidemiology, hypobetalipoproteinemia, lipoproteins, Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Angiopoietins, Apolipoproteins B, Biomarkers, Cholesterol, Cholesterol, HDL, Female, Genetic Predisposition to Disease, Heterozygote, Homozygote, Humans, Italy, Middle Aged, Missouri, Molecular Sequence Data, Phenotype, Young Adult, Codon, Nonsense, Mutation, Missense, Cardiology and Cardiovascular Medicine, Mutation, Human, medicine.medical_specialty, HDL, Socio-culturale, Angiopoietin, Biology, Internal medicine, medicine, Codon, Allele frequency, Angiopoietin-Like Protein 3, medicine.disease, Endocrinology, Angiopoietin-like Proteins, Nonsense, chemistry, Biological Marker, biology.protein, Hypobetalipoproteinemia, Missense
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6
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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7
المؤلفون: Patrizia Tarugi, Elisa Pinotti, Franco Bernini, Guido Franceschini, Maria Pia Adorni, Cesare R. Sirtori, Laura Calabresi, Elda Favari, Sebastiano Calandra, Peter M. Nilsson, Monica Gomaraschi
مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Cell cholesterol efflux, Primary hyperalphalipoproteinemia, Exon, chemistry.chemical_compound, Internal medicine, Cholesterylester transfer protein, medicine, Humans, Genetic Predisposition to Disease, CETP deficiency, Aged, Aged, 80 and over, Family Health, High density lipoproteins, CETP gene, Reverse cholesterol transport, biology, business.industry, Cholesterol, Macrophages, Point mutation, Cholesterol, HDL, Homozygote, Middle Aged, Atherosclerosis, Cholesterol Ester Transfer Proteins, Femoral Artery, carbohydrates (lipids), Carotid Arteries, Phenotype, Endocrinology, ABCG1, chemistry, ABCA1, Mutation, biology.protein, Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business
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8
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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9
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
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10
المؤلفون: Patrizia Tarugi, Peter M. Nilsson, Laura Calabresi, Cesare R. Sirtori, Elisa Pinotti, Franco Bernini, Guido Franceschini, Maria Pia Adorni, Elda Favari, Sebastiano Calandra, Monica Gomaraschi
المصدر: Nutrition, Metabolism and Cardiovascular Diseases. 18:S48
مصطلحات موضوعية: Genetics, Nutrition and Dietetics, CETP DEFICIENCY, Endocrinology, Diabetes and Metabolism, Mutation (genetic algorithm), Medicine (miscellaneous), Biology, Cardiology and Cardiovascular Medicine, Gene