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1
المؤلفون: Rita Marabese, Claudio Bardelli, Luigi Tiradani, Michela Godi, Gianni Bona, Mara Giordano, Simona Mellone, Patricia Momigliano-Richiardi, Simonetta Bellone, Flavia Prodam, Mariacarolina Salerno, Antonella Petri
المساهمون: Godi, M, Mellone, S, Tiradani, L, Marabese, R, Bardelli, C, Salerno, Mariacarolina, Prodam, F, Bellone, S, Petri, A, Momigliano Richiardi, P, Bona, G, Giordano, M.
المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E1791-E1797
مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Genetic Vectors, Clinical Biochemistry, Hypothalamus, SNP, Electrophoretic Mobility Shift Assay, Penetrance, Context (language use), Biology, Transfection, medicine.disease_cause, Polymorphism, Single Nucleotide, Biochemistry, Conserved sequence, Young Adult, Endocrinology, Genetic variation, medicine, Humans, Age of Onset, Insulin-Like Growth Factor I, Allele, Child, Luciferases, Cells, Cultured, Conserved Sequence, Homeodomain Proteins, Genetics, Mutation, Human Growth Hormone, Biochemistry (medical), Haplotype, Intron, Genetic Variation, Infant, Magnetic Resonance Imaging, Molecular biology, Hormones, Introns, Pituitary Hormones, Child, Preschool, Pituitary Gland, Female
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2
المؤلفون: Valeria Bargiggia, Patricia Momigliano-Richiardi, Maurizio Leone, Rosella Mechelli, Marco Salvetti, Susanna Cordera, Maria Edvige Fasano, Daniela Ferrante, Domenico Caputo, Sandra D'Alfonso, Elio Scarpini, Daniela Galimberti, Lucia Corrado, Paola Naldi, Ennia Dametto, Cristina Agliardi, Paola Cavalla, Franca Rosa Guerini, Laura Bergamaschi, Maria Ban, Francesco Monaco, Nadia Barizzone
المصدر: Journal of Medical Genetics. 48:485-492
مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Multiple Sclerosis, Population, Human leukocyte antigen, Biology, Young Adult, Gene Order, Genetics, Humans, Genetic Predisposition to Disease, Allele, education, Alleles, Genetic Association Studies, Genetics (clinical), Genetic association, education.field_of_study, Histocompatibility Antigens Class I, HLA-DR Antigens, Middle Aged, United Kingdom, HLA-B, HLA-A, Gene Expression Regulation, Haplotypes, Italy, Case-Control Studies, Immunology, Cohort, Female
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3
المؤلفون: Nadia Barizzone, Laura Bergamaschi, Daniela Ferrante, Roberto Bergamaschi, Patricia Momigliano-Richiardi, Cristina Agliardi, Sandra D'Alfonso, Marco Vercellino, Elisabetta Bolognesi, Maurizio Leone, Maria Edvige Fasano, Franca Rosa Guerini, Lucia Corrado, Paola Naldi, Andrea Visconti, Ennia Dametto, Elio Scarpini, Daniela Galimberti, Francesco Monaco, Domenico Caputo, Marco Salvetti
المصدر: Genes and Immunity
مصطلحات موضوعية: Genetic Markers, Linkage disequilibrium, medicine.medical_specialty, extended hla haplotypes, genetic association, Immunology, myelin oligodendrocyte glycoprotein, Biology, multiple sclerosis, Gastroenterology, Linkage Disequilibrium, Population Groups, Risk Factors, Internal medicine, Odds Ratio, Genetics, medicine, Humans, Allele, Risk factor, Alleles, Genetics (clinical), Genetic association, HLA-A Antigens, Multiple sclerosis, Haplotype, hla-class i markers, Original Articles, Odds ratio, medicine.disease, Confidence interval, Myelin-Associated Glycoprotein, Haplotypes, Italy, Myelin-Oligodendrocyte Glycoprotein, Disease Susceptibility, Myelin Proteins
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4A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency
المؤلفون: G. Corneli, Patricia Momigliano-Richiardi, Simona Mellone, Mara Giordano, Yari Carlomagno, Daniela Vivenza, Michela Godi, Mariacarolina Salerno, G. Bona, Donatella Capalbo, Luigi Tiradani
المساهمون: Carlomagno, Y., Salerno, Mariacarolina, Vivenza, D., Capalbo, Donatella, Godi, M., Mellone, S., Tiradani, L., Corneli, G., Momigliano Richiardi, P., Bona, G., Giordano, M.
المصدر: Journal of Endocrinological Investigation. 32:653-658
مصطلحات موضوعية: Genetics, Human Growth Hormone, RNA Splicing, Endocrinology, Diabetes and Metabolism, Gene mutation, Biology, Molecular biology, CPHD, In vitro splicing assay, POU1F1, Prolactin, Splicing mutation, Pedigree, Prolactin, Denaturing high performance liquid chromatography, Consanguinity, Pituitary Hormones, Open reading frame, Transactivation, Exon, Endocrinology, RNA splicing, Humans, Female, Allele, Child, Transcription Factor Pit-1, Gene, Gene Deletion
وصف الملف: STAMPA
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5
المؤلفون: Patricia Momigliano-Richiardi, Laura Bergamaschi, Maria Cristina Patrosso, Sandra D'Alfonso, Fabio Giannini, Renzo Causarano, Stefania Battistini, Claudia Ricci, Letizia Mazzini, Giuseppe Greco, Lucia Corrado, Simona Pileggi, Lucia Testa, Silvana Penco
المصدر: Journal of the Neurological Sciences. 258:123-127
مصطلحات موضوعية: Adult, Male, angiogenin, ALS, case-control study, regulatory region, polymorphisms, Italian population, Untranslated region, Adolescent, Angiogenin, DNA Mutational Analysis, Single-nucleotide polymorphism, Biology, Gene Frequency, Humans, Coding region, Missense mutation, Promoter Regions, Genetic, Allele frequency, Gene, Aged, Aged, 80 and over, Genetics, Amyotrophic Lateral Sclerosis, Genetic Variation, Ribonuclease, Pancreatic, Middle Aged, Minor allele frequency, Italy, Neurology, Female, Disease Susceptibility, Neurology (clinical)
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6
المؤلفون: N. Nasuelli, Lucia Corrado, Maurizio Leone, Letizia Mazzini, Patricia Momigliano-Richiardi, Laura Bergamaschi, Lucia Testa, Sandra D'Alfonso
المصدر: Neuromuscular Disorders. 16:800-804
مصطلحات موضوعية: Male, Genotype, Nonsense mutation, Mutation, Missense, Gene mutation, medicine.disease_cause, Severity of Illness Index, White People, Exon, Superoxide Dismutase-1, medicine, Humans, Missense mutation, RNA, Messenger, Amyotrophic lateral sclerosis, Genetics (clinical), Genetics, Mutation, Superoxide Dismutase, business.industry, Amyotrophic Lateral Sclerosis, Intron, DNA, Exons, Middle Aged, medicine.disease, Pedigree, Phenotype, Italy, Neurology, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), business
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7
المؤلفون: M.G. Limongelli, Luigi Greco, Mara Giordano, Giuseppe Magazzù, Corrado Fagnani, Lorenza Nisticò, Iolanda Coto, Patricia Momigliano-Richiardi, Sandra D'Alfonso, Concettina Sferlazzas, Franco Paparo, Maria Antonietta Stazi, Rodolfo Cotichini, S. Percopo
المساهمون: Nistico, L, Fagnani, C, Coto, I, Percopo, S, Cotichini, R, Limongelli, Mg, Paparo, F, D'Alfonso, S, Giordano, M, Sferlazzas, C, Magazzu, G, MOMIGLIANO RICHIARDI, P, Greco, Luigi, Stazi, Ma
المصدر: Gut. 55:803-808
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Concordance, Population, Coeliac Disease, Environment, Biology, FAMILIES, HLA-DQ Antigens, Internal medicine, Genotype, Diseases in Twins, Twins, Dizygotic, medicine, Humans, Genetic Predisposition to Disease, ASSAY, Registries, EUROPEAN POPULATIONS, PREVALENCE, TISSUE, PSORIASIS, ANTIBODY, ONSET, PAIRS, RISK, education, Survival analysis, education.field_of_study, Histocompatibility Testing, Hazard ratio, Gastroenterology, HLA-DR Antigens, Twins, Monozygotic, Heritability, DNA Fingerprinting, Survival Analysis, Zygosity, Confidence interval, Celiac Disease, Italy, Immunology, Disease Progression, Female
وصف الملف: STAMPA
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8
المؤلفون: Roberta Paracchini, Patricia Momigliano-Richiardi, Francesca Giacopelli, Michela Godi, Simona Mellone, Monica Lessi, Roberto Ravazzolo, Antonella Petri, Gianni Bona, Mara Giordano, Jaele Bellone
المصدر: Molecular and Cellular Endocrinology. 249:51-57
مصطلحات موضوعية: Electrophoretic Mobility Shift Assay, Biology, Biochemistry, Cell Line, Endocrinology, Genes, Reporter, Polymorphism (computer science), Animals, Humans, Luciferase, Binding site, Luciferases, Promoter Regions, Genetic, Molecular Biology, Gene, Transcriptional activity, Binding Sites, Polymorphism, Genetic, Human Growth Hormone, Haplotype, Transfection, Molecular biology, Rats, Gene Expression Regulation, Haplotypes, Cell culture, Transcription Factor Pit-1
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9
المؤلفون: Patricia Momigliano-Richiardi, Michela Godi, Laura Guazzarotti, Daniela Vivenza, Berardo di Natale, Daniela Frasca, Gianni Bona, Mara Giordano
المصدر: The Journal of Clinical Endocrinology & Metabolism. 91:980-986
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical Biochemistry, Mothers, Context (language use), Biology, Dominant-Negative Mutation, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, Exon, Endocrinology, Internal medicine, Complementary DNA, medicine, Humans, Allele, Gene, Genes, Dominant, Sequence Deletion, Genetics, Mutation, Base Sequence, Human Growth Hormone, Biochemistry (medical), Exons, Molecular biology, Pedigree, Child, Preschool, IGHD, Female
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10
المؤلفون: A Corrias, Jaele Bellone, Gianni Bona, Patricia Momigliano-Richiardi, Simona Mellone, P Matarazzo, Mara Giordano, R. Paracchini
المصدر: Clinical Genetics. 64:142-147
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Mutation, Pituitary gland, Biology, medicine.disease_cause, Compound heterozygosity, Short stature, Prolactin, medicine.anatomical_structure, Endocrinology, Internal medicine, Genetics, medicine, Missense mutation, medicine.symptom, Transcription factor, hormones, hormone substitutes, and hormone antagonists, Genetics (clinical), Hormone
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11
المؤلفون: Deborah Bonamini, Paola Valentino, Virginia Andreoli, Patricia Momigliano-Richiardi, Maurizio Leone, Alessandro Salviati, Mara Giordano, Maria Liguori, Corrado Magnani, Pier Franco Pignatti, Macarena Gomez-Lira, Giovanni Savettieri, Aldo Quattrone, Maria Trojano
المصدر: Journal of Neuroimmunology. 140:216-221
مصطلحات موضوعية: Genetic Markers, Male, Guanine, Multiple Sclerosis, Genotype, Immunology, Biology, Cytosine, Exon, Gene Frequency, medicine, Humans, Immunology and Allergy, Gene, Alleles, Genetics, Polymorphism, Genetic, Multiple sclerosis, Genetic Variation, Exons, Odds ratio, medicine.disease, Molecular biology, Alternative Splicing, Neurology, Meta-analysis, RNA splicing, Leukocyte Common Antigens, Female, Neurology (clinical)
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12
المؤلفون: Patricia Momigliano-Richiardi, Kati Karell, V. Mantovani, Iolanda Coto, E. Suoraniemi, S. Percopo, Elisabetta Bolognesi, K. Mustalahti, Luigi Greco, Jukka Partanen, Markku Mäki
المصدر: Tissue Antigens. 61:308-316
مصطلحات موضوعية: Genetics, Immunology, Haplotype, HLA-DR3, General Medicine, Human leukocyte antigen, Disease, Biology, Biochemistry, Immunology and Allergy, Risk factor, Genetic risk, Allele, Gene
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13
المؤلفون: Henry Ascher, Jukka Partanen, Paul J. Ciclitira, Elisabetta Bolognesi, Patricia Momigliano-Richiardi, S J Moodie, Kati Karell, Luigi Greco, A.S. Louka, Ludvig M. Sollid
المصدر: Human Immunology. 64:350-358
مصطلحات موضوعية: Genetic Markers, Male, musculoskeletal diseases, Linkage disequilibrium, endocrine system diseases, Immunology, Population, HLA-DR3, Polymorphism (biology), Human leukocyte antigen, Biology, HLA-DR3 Antigen, HLA-DQ Antigens, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Risk factor, skin and connective tissue diseases, education, Genetics, education.field_of_study, Homozygote, Haplotype, nutritional and metabolic diseases, General Medicine, Transmission disequilibrium test, Celiac Disease, Haplotypes, Female, Microsatellite Repeats
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14
المؤلفون: Marta Mellai, Stefania Cannoni, Luca Massacesi, Roberto Bomprezzi, Maria Giovanna Danieli, Clara Ballerini, Maria Trojano, Patricia Momigliano-Richiardi, Isabella Ferro, Maria Liguori, Maurizio Marchini, Sandra D'Alfonso, Maurizio Leone, Mara Giordano, Raffaella Scorza
المصدر: Human Immunology. 64:274-284
مصطلحات موضوعية: Male, medicine.medical_specialty, Multiple Sclerosis, Genotype, Genetic Linkage, Receptors, Prolactin, Immunology, Single-nucleotide polymorphism, Human leukocyte antigen, Biology, medicine.disease_cause, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Autoimmune Diseases, Autoimmunity, Gene Frequency, Genetic linkage, Internal medicine, medicine, Humans, Lupus Erythematosus, Systemic, Immunology and Allergy, Genetic Predisposition to Disease, Allele, skin and connective tissue diseases, Allele frequency, Genotyping, Alleles, Prolactin receptor, Exons, General Medicine, Introns, Prolactin, Endocrinology, Amino Acid Substitution, Italy, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 6, Female, 5' Untranslated Regions, hormones, hormone substitutes, and hormone antagonists
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15
المؤلفون: Nadia Barizzone, Raffaella Scorza, M G Danieli, M. Cappelli, S D' Alfonso, Patricia Momigliano-Richiardi, Marta Mellai, M Lanceni, Mara Giordano, Maria Grazia Sabbadini, Maurizio Marchini, P Rovere
المساهمون: D'Alfonso, S, Giordano, M, Mellai, M, Lanceni, M, Barizzone, N, Marchini, M, Scorza, R, Danieli, M, Cappelli, M, ROVERE QUERINI, Patrizia, Sabbadini, M, Momigliano Richiardi, P.
المصدر: Genes & Immunity. 3:454-463
مصطلحات موضوعية: Genetic Markers, Male, Association test, Genotype, 5' Flanking Region, Immunology, Ca repeat, Single-nucleotide polymorphism, Biology, Regulatory region, Gene Frequency, immune system diseases, Genetics, Humans, Lupus Erythematosus, Systemic, Dna pools, skin and connective tissue diseases, Genetics (clinical), Chi-Square Distribution, Interleukin-10, Interleukin 10, Genetic Techniques, Haplotypes, Female, Microsatellite Repeats
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16
المؤلفون: Patricia Momigliano-Richiardi, Sandra D'Alfonso, Domenico Caputo, Mara Giordano, Maria Liguori, Paola Naldi, Alessandro Pastore, Giovanni Savettieri, Stefania Cannoni, Giulia Malferrari, Clara Milanese, Anna Maria Repice, Marta Mellai
المصدر: Journal of Neuroimmunology. 126:196-204
مصطلحات موضوعية: Adult, Male, Heterozygote, Multiple Sclerosis, 5' Flanking Region, Immunology, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Denaturing high performance liquid chromatography, Gene Frequency, medicine, Humans, Immunology and Allergy, SNP, Gene, Chromatography, High Pressure Liquid, Genetic association, Genetics, Myelin-associated glycoprotein, Multiple sclerosis, Middle Aged, medicine.disease, Molecular biology, Myelin-Associated Glycoprotein, Neurology, Regulatory sequence, Female, Neurology (clinical), Chromosomes, Human, Pair 19
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17
المؤلفون: L. Praticò, M. E. Fasano, Sandra D'Alfonso, Patricia Momigliano-Richiardi, V. Rolando, Elisabetta Bolognesi
المصدر: European Journal of Immunogenetics. 28:523-530
مصطلحات موضوعية: Genetics, stomatognathic diseases, Exon, Linkage disequilibrium, Extended haplotype, Immunology, Intron, Microsatellite, Human leukocyte antigen, Typing, Biology, Allele
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18
المؤلفون: Patricia Momigliano-Richiardi, K Fleischhauer, Sandra D'Alfonso, Giuseppe Cimino, G Migliaretti, Daniela Diverio, Elisabetta Bolognesi, M. C. Rapanotti
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, Risk, Acute promyelocytic leukemia, Cancer Research, Genotype, Oncogene Proteins, Fusion, Tretinoin, Peptide binding, HLA-C Antigens, Human leukocyte antigen, Biology, Gene Frequency, Leukemia, Promyelocytic, Acute, Antigens, Neoplasm, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Idarubicin, Genetic Predisposition to Disease, Allele, Allele frequency, HLA-B13 Antigen, HLA-A Antigens, Remission Induction, Hematology, Middle Aged, Prognosis, medicine.disease, Neoplasm Proteins, Leukemia, Treatment Outcome, Italy, Oncology, HLA-B Antigens, Immunology, Neoplastic Stem Cells, Female, Neoplasm Recurrence, Local, medicine.drug
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19
المؤلفون: Patricia Momigliano-Richiardi, Marco Rampi, Raffaella Scorza-Smeraldi, Daniela Bocchio, Sandra D'Alfonso, Gualtiero I. Colombo
المصدر: Arthritis & Rheumatism. 43:120-128
مصطلحات موضوعية: Genetics, Candidate gene, Lupus erythematosus, business.industry, Immunology, Human leukocyte antigen, medicine.disease, Genetic determinism, Interleukin 10, Rheumatology, Genetic marker, Genetic predisposition, medicine, Immunology and Allergy, Pharmacology (medical), Allele, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e8fb04f5c680c831f9dcc8c3088d834
https://doi.org/10.1002/1529-0131(200001)43:1<120::aid-anr15>3.0.co;2-3 -
20
المؤلفون: Lena Samuelsson, Patricia Momigliano-Richiardi, A.S. Louka, Ludvig M. Sollid, J. Ek, S. Percopo, A. H. Gudjonsdottir, Iolanda Coto, Jan Wahlström, Henry Ascher, Sandra D'Alfonso, Marta Mellai, Luigi Greco, Å. Torinsson Naluai, Mara Giordano
المصدر: Tissue Antigens. 59:70-72
مصطلحات موضوعية: chemistry.chemical_classification, Immunology, nutritional and metabolic diseases, Single-nucleotide polymorphism, General Medicine, Human leukocyte antigen, Disease, Biology, medicine.disease, Biochemistry, Gluten, Coeliac disease, chemistry, Genetics, medicine, Interleukin 12, Immunology and Allergy, Allele, Gene