نتائج البحث - "genomic disorders"

1

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

المساهمون: Ophthalmology

المصدر: American Journal of Human Genetics, 93, 110-7
The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93, 1, pp. 110-7
American Journal of Human Genetics, 93(1), 110-117. Cell Press

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Visual Acuity, GTPase, Retinal Pigment Epithelium, Retinal Rod Photoreceptor Cells, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Genetics(clinical), Child, Genetics (clinical), Genetics, 0303 health sciences, 030305 genetics & heredity, Homozygote, Chromosome Mapping, Disease gene identification, Pedigree, Isoenzymes, Protein Transport, medicine.anatomical_structure, Codon, Nonsense, Retinitis Pigmentosa, Adult, Adolescent, Nonsense mutation, Protein Prenylation, Genes, Recessive, Biology, Retina, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Report, Retinitis pigmentosa, Ciliary rootlet, medicine, Animals, Humans, Genetic Predisposition to Disease, Cilia, Photoreceptor Connecting Cilium, Genetic Association Studies, 030304 developmental biology, Retinal pigment epithelium, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], medicine.disease, Molecular biology, eye diseases, Rats, Alternative Splicing, Gene Expression Regulation, rab GTP-Binding Proteins, Protein prenylation, Rab, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcbdd8c3d9e814ec7ff86694f085cc8cTest
https://hdl.handle.net/1765/54752Test

2

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

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

3

Impact of the ADHD-susceptibility gene CDH13 on development and function of brain networks

المؤلفون: Sandy Popp, Angelika Schmitt, Olga Rivero, Klaus-Peter Lesch, Sarah Sich, Barbara Franke

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience

المصدر: European Neuropsychopharmacology, 23(6), 492-507. Elsevier
European Neuropsychopharmacology, 23, 6, pp. 492-507
European Neuropsychopharmacology, 23, 492-507

مصطلحات موضوعية: Serotonin, Cadherin-13 (CDH13), Neurite, Neurogenesis, Dopamine, Attention-deficit/hyperactivity disorder (ADHD), Nerve Tissue Proteins, Single-nucleotide polymorphism, Impulsivity, Models, Biological, Synaptic Transmission, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Cellular signaling, Neurites, medicine, Animals, Humans, SNP, Genetic Predisposition to Disease, Pharmacology (medical), Biological Psychiatry, Neurons, Pharmacology, Connectivity, Axon guidance, Neurite outgrowth, Neurodevelopmental disorders, Brain, Genetic Variation, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Cadherins, T-cadherin, Emotional dysregulation, medicine.disease, Substance abuse, Psychiatry and Mental health, Neurology, Attention Deficit Disorder with Hyperactivity, Endothelium, Vascular, Neurology (clinical), Nerve Net, medicine.symptom, Psychology, Neuroscience, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fefe0d267163ba0a94515fe5788567cTest
https://doi.org/10.1016/j.euroneuro.2012.06.009Test

4

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

المساهمون: Human genetics, Other Research, Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Public Health, Clinical Genetics

المصدر: Nature Genetics, 44, 581-5
Roscioli, T, Kamsteeg, E J, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, L E L M, Schraders, M, Altunoglu, U, Buckley, M F, Brunner, H G, Grisart, B, Zhou, H Q, Veltman, J A, Gilissen, C, Mancini, G M S, Delree, P, Willemsen, M A, Ramadza, D P, Chitayat, D, Bennett, C, Sheridan, E, Peeters, E A J, Tan-Sindhunata, M B, de Die-Smulders, C E, Devriendt, K, Kayserili, H, El-Hashash, O A, Stemple, D L, Lefeber, D J, Lin, Y Y & van Bokhoven, H 2012, ' Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan ', Nature Genetics, vol. 44, no. 5, pp. 581-585 . https://doi.org/10.1038/ng.2253Test
Nature Genetics, 44(5), 581-585. Nature Publishing Group
Nature Genetics, 44(5), 581-+. Nature Publishing Group
Nature genetics
Nature Genetics, 44, 5, pp. 581-5
Nature Genetics; Vol 44

مصطلحات موضوعية: Embryo, Nonmammalian, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Muscle Fibers, Skeletal, Walker-Warburg syndrome, O-glycosylation, ISPD gene, medicine.disease_cause, Eye, Mannosyltransferases, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Zebrafish, Genetics, 0303 health sciences, Mutation, Fukutin-related protein, biology, Brain, Walker-Warburg Syndrome, musculoskeletal system, Phenotype, Child, Preschool, Congenital muscular dystrophy, musculoskeletal diseases, animal structures, DCN MP - Plasticity and memory, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, medicine, Animals, Humans, Walker–Warburg syndrome, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e284bf358b33bcd86598fbcd6a329e8Test
https://hdl.handle.net/2066/108772Test

5

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

المؤلفون: Connie A. Myers, Ron Bose, Carel B. Hoyng, Avigail Beryozkin, Joseph C. Corbo, B. Jeroen Klevering, Frans P.M. Cremers, Wei Shen, Anneke I. den Hollander, Rıza Köksal Özgül, Eyal Banin, Rob W.J. Collin, L. Ingeborgh van den Born, Marijke N. Zonneveld, Anna M. Siemiatkowska, Didem Yücel, Dror Sharon

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: American Journal of Human Genetics, 89, 253-64
American Journal of Human Genetics, 89, 2, pp. 253-64

مصطلحات موضوعية: Adult, Male, Rhodopsin, Candidate gene, Transcription, Genetic, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Nonsense mutation, Genes, Recessive, Protein Serine-Threonine Kinases, Regulatory Sequences, Nucleic Acid, Biology, medicine.disease_cause, Article, Mice, Young Adult, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Cilia, Kinase activity, Exome, Genetics (clinical), Exome sequencing, Genetics & Heredity, Homeodomain Proteins, Mutation, Genetic heterogeneity, Chromosome Mapping, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Genetic Loci, Trans-Activators, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Retinitis Pigmentosa, Photoreceptor Cells, Vertebrate

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22f5cbf812e880ac4cc79f09be56cacTest
https://doi.org/10.1016/j.ajhg.2011.07.005Test

6

Integrated genome-wide association study findings: identification of a neurodevelopmental network for attention deficit hyperactivity disorder

المؤلفون: Jan K. Buitelaar, David L. Pauls, Barbara Franke, Geert Poelmans

المصدر: American Journal of Psychiatry, 168, 365-77
American Journal of Psychiatry, 168, 4, pp. 365-77

مصطلحات موضوعية: Adult, Candidate gene, 110 012 Social cognition of verbal communication, DNA Copy Number Variations, Perception and Actions Mental Health [DCN 1], Single-nucleotide polymorphism, Genome-wide association study, Computational biology, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Polymorphism, Single Nucleotide, behavioral disciplines and activities, 150 000 MR Techniques in Brain Function, Genomic disorders and inherited multi-system disorders [IGMD 3], mental disorders, medicine, Neurites, Attention deficit hyperactivity disorder, Animals, Humans, Genetic Predisposition to Disease, Copy-number variation, Genes, Developmental, Child, Genetic association, Genetics, Brain, medicine.disease, Psychiatry and Mental health, Attention Deficit Disorder with Hyperactivity, Etiology, Identification (biology), Psychology, Functional Neurogenomics [DCN 2], Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9051e618a758061ba17bbbe8d9d5e53Test
https://doi.org/10.1176/appi.ajp.2010.10070948Test

7

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

المؤلفون: Hans van Bokhoven, Laurens A. M. H. Kirkels, Armaz Aschrafi, Joris Andrieux, Nikkie F.M. Olde Loohuis, Muriel Holder-Espinasse, Willy M. Nillesen, Aron Kos, Rolph Pfundt, Hanneke Rensen, Mathilde Mastebroek, Willemijn M. Wissink-Lindhout, Astrid Vallès, Marjolein C Coppens-Hofman, Ben C.J. Hamel, Marjolein H. Willemsen, Louis Vallée, Tjitske Kleefstra, Arjan P.M. de Brouwer

المساهمون: Cognitive Neuroscience, RS: FPN CN 3

المصدر: Journal of Medical Genetics; Vol 48
Journal of Medical Genetics, 48, 12, pp. 810-818
Journal of Medical Genetics, 48, 810-818
Journal of Medical Genetics, 48(12), 810-818. BMJ Publishing Group

مصطلحات موضوعية: Male, Gene Dosage, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Hippocampus, Dihydropyrimidine dehydrogenase deficiency, 0302 clinical medicine, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Regulation of gene expression, Genetics, Neurons, 0303 health sciences, Molecular Animal Physiology, Polycomb Repressive Complex 2, Phenotype, DNA-Binding Proteins, Chromosomes, Human, Pair 1, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, DNA Copy Number Variations, Primary Cell Culture, Kruppel-Like Transcription Factors, Biology, Transfection, Gene dosage, Polymorphism, Single Nucleotide, 03 medical and health sciences, Kruppel-Like Factor 4, Intellectual Disability, Dihydropyrimidine dehydrogenase, medicine, Animals, Humans, Enhancer of Zeste Homolog 2 Protein, Enhancer, Gene, Dihydrouracil Dehydrogenase (NADP), 030304 developmental biology, Microphthalmia-Associated Transcription Factor, medicine.disease, Rats, MicroRNAs, Gene Expression Regulation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Cancer research, DPYD, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72ab48db64a60d98e9fbe9130c4b8b0Test

8

Cysteamine

المؤلفون: Lambert P. van den Heuvel, Martine T.P. Besouw, Rosalinde Masereeuw, Elena Levtchenko

المصدر: Drug Discovery Today, 18, 15-16, pp. 785-92
Drug Discovery Today, 18, 785-92

مصطلحات موضوعية: Drug, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], media_common.quotation_subject, Cysteamine, Cystine, Radiation-Protective Agents, CHILDREN, Pharmacology, Renal disorder Energy and redox metabolism [IGMD 9], THERAPY, NEPHROPATHIC CYSTINOSIS, TOXICITY, chemistry.chemical_compound, In vivo, Cystamine, Nephropathic Cystinosis, Non-alcoholic Fatty Liver Disease, Internal medicine, Drug Discovery, Nonalcoholic fatty liver disease, medicine, Animals, Humans, media_common, Randomized Controlled Trials as Topic, FATTY LIVER-DISEASE, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Neurodegenerative Diseases, medicine.disease, CYSTAMINE, Fatty Liver, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Membrane transport and intracellular motility Renal disorder [NCMLS 5], BDNF, chemistry, Cystinosis, HUNTINGTONS-DISEASE, GROWTH, INDUCED LUPUS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::143445caa02077fa283fe8446287fc4bTest
https://doi.org/10.1016/j.drudis.2013.02.003Test

9

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

المؤلفون: Gemma Marfany, Josefina Casas, Meritxell Egido-Gabás, Robert E. Anderson, Alejandro Garanto, Nawajes A. Mandal, Roser Gonzàlez-Duarte, Gemma Fabriàs

المصدر: EXPERIMENTAL EYE RESEARCH
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Experimental Eye Research, 110, May, pp. 96-106
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Experimental Eye Research, 110, 96-106

مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Ceramide, Cellular homeostasis, Biology, Ceramides, Real-Time Polymerase Chain Reaction, Transfection, Article, Glycosphingolipids, Retina, Mice, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Sphingosine, Membrane fluidity, Animals, Humans, Chromatography, High Pressure Liquid, Phospholipids, Mice, Knockout, Sphingolipids, Kinase, Retinal, Lipid Metabolism, Sphingolipid, Sensory Systems, Sphingomyelins, Mice, Inbred C57BL, carbohydrates (lipids), Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, HEK293 Cells, chemistry, Protein kinase domain, Biochemistry, RNA, lipids (amino acids, peptides, and proteins), sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sphingomyelin, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecbb328cd63095e99e4a566748616b3Test
https://doi.org/10.1016/j.exer.2013.03.003Test

10

SMIM1 underlies the Vel blood group and influences red blood cell traits

المؤلفون: Dorine W. Swinkels, Heather Lloyd-Jones, Hendrik G. Stunnenberg, Graham Kiddle, Hindrik H. D. Kerstens, Gregory E. Jordan, Lonneke Haer-Wigman, Rudolf S N Fehrmann, Juha Karjalainen, Herman H W Silljé, Peter A. Smethurst, Cornelis A. Albers, Harm-Jan Westra, Hein Schepers, Jonathan Stephens, J. Poole, Willem H. Ouwehand, Mattia Frontini, Derek L. Stemple, Nicole Soranzo, Nicholas A. Watkins, Niek Verweij, Samantha Farrow, Augusto Rendon, Emile van den Akker, Vincent G. Haver, Alan Gray, C. Ellen van der Schoot, Ana Cvejic, Jennifer G. Sambrook, Myrto Kostadima, Nick Goldman, Ewa Bielczyk-Maczyńska, Botond Sipos, Malcolm Needs, Asif U. Tamuri, Aicha Ait Soussan, Lude Franke, Klaus Rieneck, Paul Bertone, Pim van der Harst, Masja de Haas

المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Stem Cell Aging Leukemia and Lymphoma (SALL), Cardiovascular Centre (CVC), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Landsteiner Laboratory, Clinical Haematology

المصدر: Nature Genetics; Vol 45
Nature Genetics, 45, 5, pp. 542-5
Nature Genetics, 45(5), 542-545. Nature Publishing Group
Nature genetics, 45(5), 542-545. Nature Publishing Group
Nature Genetics, 45, 542-5

مصطلحات موضوعية: Erythrocytes, Molecular Sequence Data, Quantitative Trait Loci, Iron metabolism Pathogenesis and modulation of inflammation [IGMD 7], GENOMES, Electrophoretic Mobility Shift Assay, 030204 cardiovascular system & hematology, Biology, VARIANTS, Article, Frameshift mutation, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Isoantibodies, Pregnancy, Gene expression, Genetics, medicine, Animals, Humans, Exome, Gene Regulatory Networks, Allele, Gene, Molecular Biology, Alleles, Zebrafish, 030304 developmental biology, Oligonucleotide Array Sequence Analysis, GENE-EXPRESSION, 0303 health sciences, Gene knockdown, Gene Expression Profiling, Erythrocyte Membrane, Homozygote, Membrane Proteins, Molecular biology, 3. Good health, Gene expression profiling, Red blood cell, ALIGNMENT, medicine.anatomical_structure, biology.protein, Blood Group Antigens, Female, Antibody, Biomarkers, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd000f2b294621e1e8bdd2f7d055d50Test
https://hdl.handle.net/11370/51bc8bbb-6eec-46d4-83fc-611fb472bc73Test

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