نتائج البحث - "Glycostation disorders [IGMD 4]"

1

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20

مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test

2

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

المؤلفون: Barbara Franke, Mascha M.V.A.P. Schijvenaars, Martin den Heijer, Hans Scheffer, Marieke J H Coenen, Sita H. Vermeulen, Régine P.M. Steegers-Theunissen, Henk J. Blom

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Franke, B, Vermeulen, S H, Steegers-Theunissen, R P, Coenen, M J, Schijvenaars, M M V A, Scheffer, H, den Heijer, M & Blom, H J 2009, ' An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1) ', Birth Defects Research Part A-Clinical and Molecular Teratology, vol. 85, no. 3, pp. 216-226 . https://doi.org/10.1002/bdra.20556Test
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 3, pp. 216-26
Birth Defects Research Part A-Clinical and Molecular Teratology, 85(3), 216-226. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 216-26

مصطلحات موضوعية: Embryology, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Receptors, Cell Surface, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Biology, RFC1, Cobalamin, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], chemistry.chemical_compound, Folic Acid, Translational research [ONCOL 3], Perception and Action [DCN 1], medicine, Humans, DNA (Cytosine-5-)-Methyltransferases, Cyanocobalamin, Child, Spinal Dysraphism, Genetics, Polymorphism, Genetic, Spina bifida, Hormonal regulation [IGMD 6], Neural tube, General Medicine, Glycostation disorders [IGMD 4], Cubilin, medicine.disease, nervous system diseases, medicine.anatomical_structure, chemistry, Pediatrics, Perinatology and Child Health, Female, Functional Neurogenomics [DCN 2], Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15811c07f4242b2de0dd1e3a1b4f9484Test
https://doi.org/10.1002/bdra.20556Test

3

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

المؤلفون: Ernie M.H.F. Bongers, Lambert P. van den Heuvel, L.T.L. Sie, Wolfram Kress, Richard J. Rodenburg, Han G. Brunner, Eva Morava

المصدر: Clinical Dysmorphology, 16, 131-4
Clinical Dysmorphology, 16, 2, pp. 131-4

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Translational research [ONCOL 3], Mitochondrial Encephalomyopathies, Internal medicine, Humans, Medicine, Genetics (clinical), Renal disorder [IGMD 9], Genome, Human, business.industry, Infant, Nucleic Acid Hybridization, Tall Stature, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Body Height, Optic Atrophy, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9188307b84d57014c2f714e0baf3b86bTest
https://doi.org/10.1097/mcd.0b013e328014715eTest

4

Mitochondrial dysfunction in a patient with Joubert syndrome

المؤلفون: H.Y. Kroes, Eva Morava, L.P.W.J. van den Heuvel, A. Dinopoulos, J.H.L.M. van Bokhoven, Jan A.M. Smeitink, Richard J. Rodenburg

المصدر: Neuropediatrics, 36, 214-7
Neuropediatrics, 36, 3, pp. 214-7

مصطلحات موضوعية: Pyruvate decarboxylation, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Ataxia, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Mitochondrial disease, Joubert syndrome, Marfan Syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], Cerebellum, Internal medicine, medicine, Neurosensory disorders [UMCN 3.3], Humans, Abnormalities, Multiple, Cerebellar hypoplasia, Psychomotor retardation, business.industry, Infant, Newborn, Facies, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Hypotonia, eye diseases, Pyruvate dehydrogenase deficiency, Mitochondrial medicine [IGMD 8], Endocrinology, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2], Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1eb18ecc476d8d18fad572bab71820fTest
https://hdl.handle.net/2066/48821Test

5

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

المؤلفون: Dirk Lefeber, Ron A. Wevers, Ingrid Hausser, Uwe Kornak, Beate Albrecht, Nick Rossen, Eva Morava, Kirsten Cremer, Saskia B. Wortmann, Arjan P.M. de Brouwer

المصدر: American Journal of Medical Genetics. Part A, 152A, 11, pp. 2916-8
American Journal of Medical Genetics. Part A, 152A, 2916-8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ebd75b40b3141b6471625c5351a98bTest
https://hdl.handle.net/2066/87351Test

6

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

المصدر: Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4

مصطلحات موضوعية: Male, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], medicine.disease_cause, Gerodermia osteodysplastica, Cutis Laxa, Abnormal glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, symbols.namesake, Genetics, medicine, Perception and Action [DCN 1], Humans, Mutation, Infant, Golgi apparatus, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Proton-Translocating ATPases, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], symbols, De Barsy syndrome, Female, Functional Neurogenomics [DCN 2], Wrinkly skin syndrome, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0984520a74a1ec60520952e911f0a51Test
https://hdl.handle.net/2066/69837Test

7

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

المؤلفون: Eva Morava, Simona Lucioli, Rosalba Carrozzo, Carlo Dionisi-Vici, Barbara Franke, Enrico Bertini, Filippo M. Santorelli, Richard J. Rodenburg, Maria Chiara Meschini, René Santer, Diana Vermunt-de Koning, Fiorella Piemonte, Leo A. J. Kluijtmans, Ulrike Steuerwald, Federica Deodato, Cristiano Rizzo, Sivia Di Giandomenico, Ron A. Wevers, Arno van Rooij

المصدر: Brain, 130, Pt 3, pp. 862-74
Brain, 130, 862-74

مصطلحات موضوعية: Male, Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], SUCLA2, DNA Mutational Analysis, Methylmalonic acid, Methylmalonic acidemia, Neuroinformatics [DCN 3], Deafness, chemistry.chemical_compound, Gene Frequency, Succinate-CoA Ligases, Perception and Action [DCN 1], Determinants in Health and Disease [EBP 1], Atlantic Islands, education.field_of_study, Brain, Magnetic Resonance Imaging, Pedigree, Mitochondrial medicine [IGMD 8], Lactic acidosis, Muscle Hypotonia, Female, Leigh Disease, Functional Neurogenomics [DCN 2], medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Population, Biology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Cognitive neurosciences [UMCN 3.2], Mitochondrial Encephalomyopathies, Internal medicine, Carnitine, medicine, Humans, education, Muscle, Skeletal, Family Health, Infant, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Endocrinology, chemistry, Methylmalonic aciduria, Genetic defects of metabolism [UMCN 5.1], Inborn error of metabolism, Mutation, Neurology (clinical), Methylmalonic Acid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac3d33c2a7cf21ef7fa89ff38c072f7Test
https://pubmed.ncbi.nlm.nih.gov/17301081Test

8

Arts syndrome is caused by loss-of-function mutations in PRPS1

المؤلفون: John A. Duley, Linda S. Weaving, André B.P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, Hans van Bokhoven, Robert A. Ouvrier, Lida Zoetekouw, Melissa Roeffen, Kelly L. Williams, Jennifer A. Donald, Ben C.J. Hamel, Arjan P.M. de Brouwer, Ron A. Wevers, Dorien Lugtenberg, Martijn J.G. Banning, John Christodoulou

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

المصدر: American Journal of Human Genetics, 81, 3, pp. 507-18
American Journal of Human Genetics, 81, 507-18
American journal of human genetics, 81(3), 507-518. Cell Press

مصطلحات موضوعية: Male, Candidate gene, Erythrocytes, Genetics and epigenetic pathways of disease [NCMLS 6], Genetic Linkage, Protein Conformation, Neuroinformatics [DCN 3], medicine.disease_cause, chemistry.chemical_compound, Perception and Action [DCN 1], Missense mutation, Genetics(clinical), Genetics (clinical), Genetics, Mutation, Phosphoribosyl pyrophosphate, Syndrome, Hypotonia, Pedigree, Muscle Hypotonia, Female, medicine.symptom, Functional Neurogenomics [DCN 2], Ataxia, Energy and redox metabolism [NCMLS 4], Bioinformatics, Mutation, Missense, Biology, Article, Cell Line, Genomic disorders and inherited multi-system disorders [IGMD 3], Optic Atrophies, Hereditary, Intellectual Disability, Ribose-Phosphate Pyrophosphokinase, medicine, Humans, Hearing Loss, Chromosomes, Human, X, Arts syndrome, Fibroblasts, Glycostation disorders [IGMD 4], Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Gene expression profiling, chemistry, Genetic defects of metabolism [UMCN 5.1], Purines, Cellular energy metabolism [UMCN 5.3]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95fb47de2db30beb1d5beb79e865764aTest
https://hdl.handle.net/2066/35095Test

9

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

المصدر: Cell, 142, 2, pp. 203-17
Cell, 142, 203-17

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e097406be1e931b60a9ec756093fe27cTest

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