نتائج البحث - "genomic disorders"

المصدر: European journal of human genetics : EJHG ; the official journal of the European Society of Human Genetics
European Journal of Human Genetics, 21, 12, pp. 1377-82
European Journal of Human Genetics, 21, 1377-82

مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Candidate gene, DNA Copy Number Variations, Limb Deformities, Congenital, Anal Canal, Tracheoesophageal fistula, Biology, Kidney, Gastroenterology, digestive system, Article, Receptors, G-Protein-Coupled, Anus, Imperforate, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Esophagus, Internal medicine, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Copy-number variation, Genetics (clinical), Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, VACTERL association, Phenotype, Spine, digestive system diseases, Trachea, Radius, medicine.anatomical_structure, Human Reproduction Renal disorder [NCEBP 12], Atresia, Karyotyping, Female, SNP array

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3804f14a988999d6146fe14e3be0efTest
https://hdl.handle.net/2066/125305Test

5

Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

المساهمون: Faculty of Behavioural, Management and Social Sciences, Psychology, Health & Technology, Clinical Immunology and Rheumatology, AII - Amsterdam institute for Infection and Immunity, Rheumatology, CCA - Disease profiling

المصدر: Annals of the Rheumatic Diseases, 72, 8, pp. 1375-81
Annals of the Rheumatic Diseases, 72, 1375-81
Annals of the rheumatic diseases, vol 72, iss 8
Annals of the rheumatic diseases, 72, 1375-1381. BMJ
Annals of the rheumatic diseases, 72(8), 1375-1381. BMJ Publishing Group
Annals of the Rheumatic Diseases, 72(8), 1375-1381. BMJ Publishing Group
Mirkov, M U, Cui, J, Vermeulen, S H, Stahl, E A, Toonen, E J M, Makkinje, R R, Lee, A T, Huizinga, T W J, Allaart, R, Barton, A, Mariette, X, Miceli, C R, Criswell, L A, Tak, P P, de Vries, N, Saevarsdottir, S, Padyukov, L, Bridges, S L, van Schaardenburg, D, Jansen, T L, Dutmer, E A J, van de Laar, M A F J, Barrera, P, Radstake, T R D J, van Riel, P L C M, Scheffer, H, Franke, B, Brunner, H G, Plenge, R M, Gregersen, P K, Guchelaar, H J & Coenen, M J H 2013, ' Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis ', Annals of the Rheumatic Diseases, vol. 72, no. 8, pp. 1375-1381 . https://doi.org/10.1136/annrheumdis-2012-202405Test
Annals of the Rheumatic Diseases, 72(8), 1375-1381

مصطلحات موضوعية: Male, Oncology, DNA Mutational Analysis, Drug Resistance, IR-86362, Genome-wide association study, DCN PAC - Perception action and control, Cell morphology, Receptors, Tumor Necrosis Factor, Etanercept, Arthritis, Rheumatoid, Anti-TNF, Rheumatoid, Receptors, Monoclonal, 2.1 Biological and endogenous factors, Immunology and Allergy, Registries, Aetiology, Humanized, Health aging / healthy living Pathogenesis and modulation of inflammation [IGMD 5], Antibodies, Monoclonal, Single Nucleotide, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Connective tissue disease, Antirheumatic Agents, Rheumatoid arthritis, Public Health and Health Services, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Female, Genetic Markers, medicine.medical_specialty, Clinical Sciences, Immunology, METIS-291290, Rheumatoid Arthritis, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymorphism, Single Nucleotide, Autoimmune Disease, Article, Antibodies, General Biochemistry, Genetics and Molecular Biology, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Molecular epidemiology [NCEBP 1], Gene Polymorphism, Rheumatology, Internal medicine, Genetics, medicine, Humans, Polymorphism, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Tumor Necrosis Factor-alpha, business.industry, Arthritis, Inflammatory and immune system, Human Genome, Adalimumab, medicine.disease, Infliximab, Arthritis & Rheumatology, Gene Expression Regulation, Pharmacogenetics, Genetic marker, Immunoglobulin G, Gene polymorphism, Tumor Necrosis Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1200625a9d12ca0938a6cd05b0c87504Test
https://doi.org/10.1136/annrheumdis-2012-202405Test

6

Analysis of single nucleotide polymorphisms in theSFRS3andFKBP4genes in corticosteroid-induced ocular hypertension

المؤلفون: Carel B. Hoyng, Shazia Micheal, Anneke I. den Hollander, Bjorn Bakker, Barend F. Hogewind

المصدر: Ophthalmic Genetics, 33, 4, pp. 221-4
Ophthalmic Genetics, 33, 221-4

مصطلحات موضوعية: Male, Intraocular pressure, medicine.medical_specialty, Triamcinolone acetonide, Genotype, genetic structures, medicine.drug_class, Ocular hypertension, Single-nucleotide polymorphism, Pharmacology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Triamcinolone Acetonide, Gastroenterology, Tacrolimus Binding Proteins, Tonometry, Ocular, Gene Frequency, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, medicine, Humans, Glucocorticoids, Intraocular Pressure, Genetics (clinical), Aged, Retrospective Studies, Serine-Arginine Splicing Factors, business.industry, RNA-Binding Proteins, Intravitreal administration, Middle Aged, medicine.disease, Acetonide, eye diseases, Ophthalmology, Case-Control Studies, Intravitreal Injections, Pediatrics, Perinatology and Child Health, Cohort, Corticosteroid, Female, Ocular Hypertension, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb00bf58897e303f91ff849b56261c05Test
https://doi.org/10.3109/13816810.2012.716488Test

7

Sex Modulates the Interactive Effect of the Serotonin Transporter Gene Polymorphism and Childhood Adversity on Hippocampal Volume

المؤلفون: Barbara Franke, Guillén Fernández, van Oostrom I, Thomas Frodl, Lotte Gerritsen, Mark Rijpkema, Daphne Everaerd, Indira Tendolkar

المصدر: Neuropsychopharmacology, 37, 1848-55
Neuropsychopharmacology, 37, 8, pp. 1848-55

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, Medizin, Locus (genetics), DCN PAC - Perception action and control, Biology, Hippocampus, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Life Change Events, Atrophy, 130 000 Cognitive Neurology & Memory, Internal medicine, Image Processing, Computer-Assisted, medicine, Humans, Hippocampus (mythology), Allele, Alleles, Serotonin transporter, Serotonin Plasma Membrane Transport Proteins, Pharmacology, Genetics, Brain Mapping, Sex Characteristics, Polymorphism, Genetic, Depression, Translational research Immune Regulation [ONCOL 3], Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Endocrinology, biology.protein, Female, Original Article, Self Report, Gene polymorphism, Sex characteristics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a87ac53e59e7a585290b3776c20458Test
https://doi.org/10.1038/npp.2012.32Test

8

Increase in serum brain-derived neurotrophic factor in met allele carriers of the BDNF Val66Met polymorphism is specific to males

المؤلفون: Richard C. Oude Voshaar, Boudewijn A.A. Bus, Alejandro Arias-Vasquez, Jacqueline de Graaf, Barbara Franke, Jos Prickaerts

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, Faculteit Medische Wetenschappen/UMCG, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE)

المصدر: Neuropsychobiology, 65, 4, pp. 183-7
Neuropsychobiology, 65, 183-7
Neuropsychobiology, 65(4), 183-187. S. Karger AG
Neuropsychobiology, 65(4), 183-187. KARGER

مصطلحات موضوعية: Male, Serum, medicine.medical_specialty, STRESS, Genotype, DCN MP - Plasticity and memory, Val66met polymorphism, DCN PAC - Perception action and control, Mental health [NCEBP 9], Community Health Planning, Brain-derived neurotrophic factor, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Sex interaction, Methionine, Val66Met, Neurotrophic factors, Internal medicine, medicine, Humans, Allele, Alleles, Health aging / healthy living Cardiovascular diseases [IGMD 5], Biological Psychiatry, Depression (differential diagnoses), Aged, Genetic association, Genetics, Sex Characteristics, Chi-Square Distribution, Polymorphism, Genetic, Valine, Middle Aged, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], DEPRESSION, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Endocrinology, Female, Psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0221bdb9a99a8dbd795926d56b5e9c76Test
https://doi.org/10.1159/000336997Test

9

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test

10

Depressive symptom clusters are differentially associated with atherosclerotic disease

المؤلفون: Nitin Purandare, Radboud M. Marijnissen, J. de Graaf, Suzanne Holewijn, Boudewijn A.A. Bus, Barbara Franke, M. den Heijer, R.C. Oude Voshaar, Jan K. Buitelaar

المساهمون: Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE)

المصدر: Psychological Medicine, 41, 7, pp. 1419-28
Psychological Medicine, 41, 1419-28
Psychological Medicine, 41(7), 1419-1428. Cambridge University Press

مصطلحات موضوعية: Carotid Artery Diseases, Male, 110 012 Social cognition of verbal communication, Heart disease, Perception and Actions Mental Health [DCN 1], LATE-LIFE DEPRESSION, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], INTIMA-MEDIA THICKNESS, Coronary artery disease, Hormonal regulation Molecular epidemiology [IGMD 6], Myocardial infarction, Applied Psychology, Depression (differential diagnoses), Subclinical infection, Netherlands, Principal Component Analysis, CARDIOVASCULAR PROGNOSIS, Late life depression, Middle Aged, Psychiatry and Mental health, depression, Cardiology, cognitive-affective, CAROTID ATHEROSCLEROSIS, CORONARY-ARTERY-DISEASE, Female, Functional Neurogenomics [DCN 2], medicine.medical_specialty, Health aging / healthy living [IGMD 5], factor analysis, HEART-DISEASE, elderly, 150 000 MR Techniques in Brain Function, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Internal medicine, medicine, Humans, VASCULAR DEPRESSION, Aged, Psychiatric Status Rating Scales, Depressive Disorder, business.industry, Vascular disease, somatic-affective, MAJOR DEPRESSION, medicine.disease, CARDIAC EVENTS, Intima-media thickness, MYOCARDIAL-INFARCTION, intima-media thickness (IMT), atherosclerosis, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9db9945212085cf84ee6a056d806efcaTest
https://research.rug.nl/en/publications/36b60b0d-5e60-4570-a7bc-c72bc4382d20Test

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