نتائج البحث - "Glycostation disorders [IGMD 4]"

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

7

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

المصدر: Annals of Neurology, 72, 550-8
Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
Annals of Neurology, 72, 4, pp. 550-8

مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, Drug Resistance, Endoplasmic Reticulum, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Pregnancy, Missense mutation, Muscular dystrophy, Child, Dystroglycans, Mutation, Liver Diseases, Middle Aged, Hypotonia, Neurology, Child, Preschool, Microcephaly, Female, medicine.symptom, Lipid glycosylation, Adult, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Mutation, Missense, Vision Disorders, DOLICHOL-PHOSPHATE-MANNOSE, CAUSES CONGENITAL DISORDER, MAMMALIAN-CELLS, GLYCOSYLATION, SYNTHASE, BIOSYNTHESIS, GENE, DPM1, PROTEIN, IE, Coagulation Protein Disorders, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Internal medicine, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Aged, Epilepsy, Electromyography, Endoplasmic reticulum, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Endocrinology, chemistry, Neurology (clinical), Isoelectric Focusing, Mannose

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f8f06d840958b8a38d6b1ac4c27275Test
https://doi.org/10.1002/ana.23632Test

8

Sjögren–Larsson syndrome in clinical practice

المؤلفون: Marinette van der Graaf, Michèl A.A.P. Willemsen, Thomas Theelen, Hans R. Waterham, Ron A. Wevers, Joris Fuijkschot, Imelda J. M. de Groot, Marieke M B Seyger, Ronald J.A. Wanders

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Journal of inherited metabolic disease, 35(6), 955-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 35, 955-62
Journal of Inherited Metabolic Disease, 35, 6, pp. 955-62

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, DCN MP - Plasticity and memory, MEDLINE, Eye, Auto-immunity, transplantation and immunotherapy [N4i 4], Evaluation of complex medical interventions Functional imaging [NCEBP 2], Original research, Genomic disorders and inherited multi-system disorders [IGMD 3], Pregnancy, Genetics, medicine, Humans, Medical physics, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Skin pathology, DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], Genetics (clinical), Skin, Sjögren–Larsson syndrome, integumentary system, business.industry, Infant, Newborn, Brain, Diagnostic test, Functional imaging [IGMD 1], Genetic Therapy, Glycostation disorders [IGMD 4], medicine.disease, Aldehyde Oxidoreductases, Carotenoids, Human Movement & Fatigue DCN PAC - Perception action and control [NCEBP 10], Review article, Clinical Practice, Sjogren-Larsson Syndrome, Mutation, Premature Birth, Treatment strategy, Female, Bezafibrate, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31de274646bc41042af17b338ca8a6eeTest
https://doi.org/10.1007/s10545-012-9518-6Test

9

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

المؤلفون: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Medicine, Human genetics, NCA - Childhood White Matter Diseases, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9)

المصدر: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022Test
Molecular Genetics and Metabolism, 105, 4, pp. 596-601

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, Plasma Membrane Neurotransmitter Transport Proteins, chemistry.chemical_compound, Endocrinology, Missense variants, Mental Retardation, Missense mutation, Site-Directed, Cells, Cultured, Genetics, Mutation, Cultured, Blotting, Real-time polymerase chain reaction, Female, Western, Heterozygote, Cells, Blotting, Western, Mutation, Missense, Mutagenesis (molecular biology technique), Nerve Tissue Proteins, Biology, SLC6A8, Creatine, Real-Time Polymerase Chain Reaction, LOVD, Genomic disorders and inherited multi-system disorders [IGMD 3], DHPLC, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Heterozygote advantage, Glycostation disorders [IGMD 4], X-Linked, Fibroblasts, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, Mutagenesis, Mental Retardation, X-Linked, Mutagenesis, Site-Directed, Missense, Creatine transporter

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147Test
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbcTest

10

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

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