نتائج البحث - "genomic disorders"

المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81

مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test

6

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

مصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, 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___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test

7

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

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

المساهمون: Public Health, Clinical Genetics, Ethical, Legal, Social Issues in Genetics (ELSI)

المصدر: Nature Genetics, 44(4), 440-U255. Nature Publishing Group
Nature Genetics, 44, 4, pp. 440-4, S1-2
Nature Genetics; Vol 44
Nature Genetics, 44, 440-4, S1-2
Nature genetics
Paediatrics Publications

مصطلحات موضوعية: Male, Proband, PTOSIS, Developmental Disabilities, medicine.disease_cause, 0302 clinical medicine, Missense mutation, Child, Exome sequencing, Sequence Deletion, Genetics, 0303 health sciences, Mutation, Brain, Syndrome, Phenotype, Coloboma, GROWTH, Female, Adult, Adolescent, DNA Copy Number Variations, Molecular Sequence Data, Mutation, Missense, DNA-SEQUENCING DATA, NOONAN-SYNDROME, Biology, Nervous System Malformations, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, MALFORMATIONS, Amino Acid Sequence, Gene, Actin, 030304 developmental biology, ACTG1, Base Sequence, IDENTIFICATION, GAMMA-ACTIN, Sequence Analysis, DNA, Actins, IRIS COLOBOMA, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], BETA-ACTIN, PAX9 Transcription Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sequence Alignment, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: Electronic; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0138dd6e14fb3e0c15f66dbee60a92Test
https://hdl.handle.net/2066/110786Test

10

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

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

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