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1
المؤلفون: Juan G. Puig, Rosa J. Torres
المصدر: Nucleosides, Nucleotides and Nucleic Acids. 37:261-272
مصطلحات موضوعية: 0301 basic medicine, Neurogenesis, Retinoic acid, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, WNT2, Genetics, Humans, Hedgehog Proteins, NTERA-2, Sonic hedgehog, beta Catenin, Neurons, biology, Chemistry, Wnt signaling pathway, Cell Differentiation, General Medicine, Transforming growth factor beta, Ribonucleotides, Aminoimidazole Carboxamide, 030104 developmental biology, Gene Expression Regulation, Hypoxanthine-guanine phosphoribosyltransferase, Transforming Growth Factors, Cancer research, biology.protein, Molecular Medicine, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, Signal Transduction
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2
المؤلفون: Juan G. Puig, Rosa J. Torres
المصدر: Journal of Human Genetics. 62:1079-1083
مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Hypoxanthine Phosphoribosyltransferase, medicine.medical_specialty, Lesch-Nyhan Syndrome, Usually asymptomatic, Biology, X-inactivation, 03 medical and health sciences, 0302 clinical medicine, X Chromosome Inactivation, Internal medicine, Genetics, medicine, Humans, Allele, Skewed X-inactivation, Genetics (clinical), Aged, Aged, 80 and over, Middle Aged, Phenotype, 030104 developmental biology, Endocrinology, Hypoxanthine-guanine phosphoribosyltransferase, Lesch-Nyhan Disease, Female, 030217 neurology & neurosurgery
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3
المؤلفون: Rosa J. Torres, Juan G. Puig, C. Prior, Marta G. Garcia
المصدر: Nucleosides, Nucleotides & Nucleic Acids. 35:507-516
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adenosine, Lesch-Nyhan Syndrome, Stimulation, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Wnt4 Protein, Dopamine, Internal medicine, Genetics, medicine, Humans, 5-HT receptor, Hypoxanthine, Homeodomain Proteins, Neurons, Adenosine transport, Biological Transport, Cell Differentiation, General Medicine, Adenosine receptor, Molecular biology, 030104 developmental biology, Endocrinology, chemistry, Hypoxanthine-guanine phosphoribosyltransferase, Molecular Medicine, 030217 neurology & neurosurgery, medicine.drug
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4
المؤلفون: Rosa J. Torres, Juan G. Puig
المصدر: International journal of rheumatic diseases. 21(6)
مصطلحات موضوعية: 0301 basic medicine, Gout, Lesch-Nyhan Syndrome, Glucose Transport Proteins, Facilitative, Organic Anion Transporters, urologic and male genital diseases, chemistry.chemical_compound, 0302 clinical medicine, ATP Binding Cassette Transporter, Subfamily G, Member 2, Hyperuricemia, Child, education.field_of_study, biology, Middle Aged, Neoplasm Proteins, Phenotype, Treatment Outcome, Child, Preschool, SLC22A12, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Organic Cation Transport Proteins, Allopurinol, Population, Polymorphism, Single Nucleotide, Gout Suppressants, 03 medical and health sciences, Young Adult, Rheumatology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, business.industry, nutritional and metabolic diseases, medicine.disease, Hyperuricosuria, Uric Acid, Renal Elimination, 030104 developmental biology, Endocrinology, chemistry, biology.protein, Uric acid, business, 030217 neurology & neurosurgery, Biomarkers, SLC2A9
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5
المؤلفون: Hyder A. Jinnah, Juan G. Puig, Rosa J. Torres, Christopher C. Porter, Gul Yalcin-Cakmakli, Araceli Menendez, Hasan Fatih Çakmaklı
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Lesch-Nyhan Syndrome, Macrocytosis, Disease, Article, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, megaloblastic anemia, medicine, Humans, Anemia, Macrocytic, Longitudinal Studies, Megaloblastic anemia, Child, Genetics (clinical), macrocytic anemia, business.industry, Metabolic disorder, Infant, Lesch-Nyhan disease, Iron deficiency, medicine.disease, hypoxanthine-guanine phosphoribosyltransferase, Phenotype, chemistry, Lesch-Nyhan Disease, HPRT1, Child, Preschool, Uric acid, Macrocytic anemia, business, 030217 neurology & neurosurgery, 030215 immunology
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6
المؤلفون: Rosa J. Torres, Juan G. Puig
المصدر: Journal of Inherited Metabolic Disease. 38:1109-1118
مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, Adenosine, Lesch-Nyhan Syndrome, Tyrosine 3-Monooxygenase, Cell Culture Techniques, Retinoic acid, Tretinoin, Biology, chemistry.chemical_compound, Wnt4 Protein, Cell Line, Tumor, WNT4, Genetics, medicine, Humans, Wnt Signaling Pathway, Genetics (clinical), Hypoxanthine, Homeodomain Proteins, Neurons, Tyrosine hydroxylase, Receptors, Dopamine D1, Neurogenesis, Wnt signaling pathway, Cell Differentiation, medicine.disease, Molecular biology, Cell biology, chemistry, Hypoxanthine-guanine phosphoribosyltransferase, Lesch–Nyhan syndrome
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المؤلفون: Celso Amodeo, Marco Antonio Alcocer Gamba, Irina Chazova, Jean-Jacques Mourad, Juan G. Puig, Stefano Taddei, Roland Asmar, Giuseppe Mancia
المساهمون: Mancia, G, Asmar, R, Amodeo, C, Mourad, J, Taddei, S, Gamba, M, Chazova, I, Puig, J
المصدر: Journal of Hypertension. 33:401-411
مصطلحات موضوعية: singlepill combination, Adult, Male, medicine.medical_specialty, hypertension, Physiology, First line, Blood Pressure, amlodipine, perindopril, valsartan, Internal Medicine, Cardiology and Cardiovascular Medicine, law.invention, Double-Blind Method, Randomized controlled trial, law, Drug Combination, Internal medicine, Perindopril, medicine, Amlodipine, Aged, business.industry, Indapamide, Middle Aged, Amlodipine, Valsartan Drug Combination, Antihypertensive Agent, Blood pressure, Valsartan, Pill, Cardiology, Drug Therapy, Combination, Female, business, Human, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe6db5b63f6a10e117dd57d5fe31f08
https://doi.org/10.1097/hjh.0000000000000409 -
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المؤلفون: Matthijs Janssen, Alexander So, Marilyn E. Merriman, Edward Roddy, Lisa K. Stamp, Philip Riches, Ruth Topless, Robert J. Walker, Twj Huizinga, Tony R. Merriman, Lab Joosten, Mariano Andrés, Murray Cadzow, J. de Zoysa, Matthew A. Brown, Geraldine M. McCarthy, Karel Pavelka, Christopher Hill, Fernando Perez-Ruiz, E. de Guzman, Donia Macartney-Coxson, Blanka Stiburkova, Nicola Dalbeth, Ken Yamamoto, Rosa J. Torres, Amanda Phipps-Green, T.L. Jansen, T R D J Radstake, Katie Cremin, Fina A S Kurreeman, S. Lester, Rinki Murphy, R. Stubbs, Linda A. Bradbury, Michael Doherty, E Stahl, Russell R C Buchanan, Abhishek Abhishek, A.-K. Tausche, Hirotaka Matsuo, Sally P.A. McCormick, Hyon K. Choi, Tanya J Flynn, Frédéric Lioté, Maureen Rischmueller, Juan G. Puig, Malcolm D. Smith
المصدر: Poster Presentations.
مصطلحات موضوعية: musculoskeletal diseases, 030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, Genome-wide association study, Single-nucleotide polymorphism, Acr criteria, medicine.disease, Biobank, Rheumatology, Gout, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Genotype, medicine, Hyperuricemia, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b7fc887f8950742f971d64b7120e1da
https://doi.org/10.1136/annrheumdis-2017-eular.5634 -
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المؤلفون: Rebeca Bailén, Eugenio de Miguel, José R. Banegas, Juan G. Puig, Rosa J. Torres
المصدر: The Journal of Rheumatology. 41:1863-1870
مصطلحات موضوعية: Male, medicine.medical_specialty, Gout, Immunology, Organic Anion Transporters, Hyperuricemia, Polymorphism, Single Nucleotide, Excretion, chemistry.chemical_compound, Rheumatology, Internal medicine, Humans, Immunology and Allergy, Medicine, SNP, Alleles, Aged, Genetics, biology, business.industry, Middle Aged, medicine.disease, Uric Acid, Endocrinology, chemistry, biology.protein, Uric acid, Female, SLC22A12, Gene polymorphism, business, SLC2A9
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2aa5bee0fb6f3e7695be1d01664835d
https://doi.org/10.3899/jrheum.140126 -
10
المؤلفون: M Teresa Rodríguez, Juan G. Puig, M Luisa Llena, Nicolás M González Senac, Rosa J. Torres, Marta Migoya, Rebeca Bailén, Mónica M López, Eugenio de Miguel
المصدر: Nucleosides, Nucleotides and Nucleic Acids. 33:174-180
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Gout, Allopurinol, Pharmacology, Biochemistry, Internal medicine, Genetics, medicine, Humans, Hyperuricemia, Aged, Aged, 80 and over, Chemistry, Maintenance dose, Incidence (epidemiology), General Medicine, Middle Aged, medicine.disease, Hospitals, Rheumatology, Uric Acid, Regimen, Primary gout, Molecular Medicine, Female, Safety, medicine.drug