نتائج البحث - "genomic disorders"

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

5

Short-Term Changes of Basal Laminar Drusen on Spectral-Domain Optical Coherence Tomography

المؤلفون: Camiel J. F. Boon, Thomas Theelen, Yara T. E. Lechanteur, Dzenita Smailhodzic, Carel B. Hoyng, Johannes P. H. van de Ven, Anneke I. den Hollander

المصدر: American Journal of Ophthalmology, 154, 3, pp. 560-7
American Journal of Ophthalmology, 154, 560-7

مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Visual Acuity, Retinal Drusen, Spectral domain, Retinal Pigment Epithelium, Drusen, Evaluation of complex medical interventions Functional imaging [NCEBP 2], Basement Membrane, Optics, Optical coherence tomography, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Ophthalmology, Odds Ratio, Humans, Medicine, Prospective Studies, Prospective cohort study, Aged, Aged, 80 and over, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Odds ratio, Middle Aged, medicine.disease, eye diseases, Confidence interval, Extracellular Matrix, Phenotype, medicine.anatomical_structure, Basal Laminar Drusen, Female, Bruch Membrane, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b699448957048b8c15d0f5c46866ce35Test
https://doi.org/10.1016/j.ajo.2012.03.012Test

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

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

المؤلفون: Willem M.A. Verhoeven, Nicole de Leeuw, Ilse Feenstra, Jos I. M. Egger

المساهمون: Psychiatry

المصدر: European Journal of Medical Genetics, 55, 5, pp. 258-361
European Journal of Medical Genetics, 55, 5, pp. 358-61
European Journal of Medical Genetics, 55(5), 358-361. Elsevier Masson
European Journal of Medical Genetics, 55, 258-361
European Journal of Medical Genetics, 55, 358-61

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Status epilepticus, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Experimental Psychopathology and Treatment, Epilepsy, Pectus excavatum, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Psychomotor learning, Comparative Genomic Hybridization, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, Neuropsychology, General Medicine, Plasticity and Memory [DI-BCB_DCC_Theme 3], Microdeletion syndrome, medicine.disease, Female, Chromosome Deletion, medicine.symptom, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 8, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e79202f45d5fb0b0375e8cbf04edd30Test
https://hdl.handle.net/2066/110541Test

8

Aetiology of hypospadias: a systematic review of genes and environment

المؤلفون: Wout Feitz, Nel Roeleveld, Nine V A M Knoers, I.A.L.M. van Rooij, Barbara Franke, L.F.M. Van Der Zanden

المصدر: Human Reproduction Update, 18, 260-83
Human Reproduction Update, 18, 3, pp. 260-83

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Mutation/genetics, Placental insufficiency, Bioinformatics, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genetic, Pre-Eclampsia, Polymorphism (computer science), Pregnancy, medicine, Homeobox, Humans, Prenatal Exposure Delayed Effects/etiology, Tissue engineering and pathology Renal disorder [NCMLS 3], Polymorphism, Gynecology, Hypospadias/etiology, Hypospadias, Polymorphism, Genetic, business.industry, Genes, Homeobox, Obstetrics and Gynecology, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, Reproductive Medicine, Human Reproduction Renal disorder [NCEBP 12], Genes, SRD5A2, Prenatal Exposure Delayed Effects, Mutation, HSD3B2, Etiology, Female, Gene-Environment Interaction, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2ae3e0e7d63ea0247c2ac50a513e90Test
https://doi.org/10.1093/humupd/dms002Test

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

Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration

المؤلفون: Bernd Kirchhof, Johannes P. H. van de Ven, Carel B. Hoyng, Robert K. Koenekoop, Amer Omar, Dzenita Smailhodzic, Alice Yang Zhang, Sascha Fauser, Anneke I. den Hollander, Angela Kwestro, Philipp S. Muether, John C. Chen, Jan E.E. Keunen, B. Jeroen Klevering

المصدر: Ophthalmology, 119, 2304-11
Ophthalmology, 119, 11, pp. 2304-11

مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, medicine.medical_specialty, Genotype, genetic structures, Visual Acuity, Angiogenesis Inhibitors, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Cohort Studies, Risk Factors, Ranibizumab, Ophthalmology, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], medicine, Humans, Age of Onset, Fluorescein Angiography, Alleles, Aged, Aged, 80 and over, business.industry, Standard treatment, Proteins, Diabetic retinopathy, Middle Aged, Macular degeneration, medicine.disease, Vascular Endothelial Growth Factor Receptor-2, Frizzled Receptors, eye diseases, Low Density Lipoprotein Receptor-Related Protein-5, Pharmacogenetics, Complement Factor H, Intravitreal Injections, Wet Macular Degeneration, Female, sense organs, Age of onset, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Tomography, Optical Coherence, Cohort study, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3af55bef306a2d2f3ffcf78d698eafbTest
https://hdl.handle.net/2066/110749Test

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