يعرض 1 - 10 نتائج من 22 نتيجة بحث عن '"Glycostation disorders [IGMD 4]"', وقت الاستعلام: 0.98s تنقيح النتائج
  1. 1
    Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

    المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

    المصدر: Neurology, 81, 7, pp. 681-7
    Neurology, 81, 681-7

    مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
    https://doi.org/10.1212/wnl.0b013e3182a08f53Test


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  2. 2
    Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers

    المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

    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


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  3. 3
    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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  4. 4
    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


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  5. 5
    Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

    المؤلفون: Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, N.J.D. Weegerink, Ronald J.E. Pennings, Henricus P. M. Kunst, Hannie Kremer, Vera M. Kalscheuer, Sriram Kannan, Stefan A. Haas, Ronald J.C. Admiraal, Lies H. Hoefsloot, Hao Hu

    المصدر: American Journal of Human Genetics, 88, 5, pp. 628-34
    American Journal of Human Genetics, 88, 628-34

    مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Hearing loss, DNA Mutational Analysis, Nonsense mutation, Muscle Proteins, Locus (genetics), Biology, Bioinformatics, Polymorphism, Single Nucleotide, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Report, medicine, Perception and Action [DCN 1], Genetics, otorhinolaryngologic diseases, Humans, Genetics(clinical), Insulin-Like Growth Factor I, Child, Frameshift Mutation, Hearing Loss, Gene, Progressive hearing impairment, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Molecular Sequence Annotation, Middle Aged, Glycostation disorders [IGMD 4], Pedigree, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Codon, Nonsense, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Female, medicine.symptom, Sequence Analysis, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7880e8b2735073f6f72e6dc292079fTest
    https://hdl.handle.net/2066/97159Test


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  6. 6
    Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation

    المؤلفون: Henricus G. X. M. Thomeer, Eva Morava, Berit M. Verbist, Cor W. R. J. Cremers

    المصدر: International Journal of Pediatric Otorhinolaryngology, 77, 7, pp. 1152-7
    International Journal of Pediatric Otorhinolaryngology, 77, 1152-7

    مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Turkey, Consanguineous family, Consanguinity, DCN PAC - Perception action and control, Aetiology, screening and detection [ONCOL 5], Audiology, Gene mutation, Craniofacial Abnormalities, Tertiary Care Centers, Young Adult, medicine, otorhinolaryngologic diseases, Humans, Phosphate Transport Proteins, Young adult, Child, Hearing Loss, Retrospective Studies, Bone Diseases, Developmental, Hypertelorism, business.industry, Metabolic disorder, Retrospective cohort study, General Medicine, Hyperostosis, Middle Aged, Glycostation disorders [IGMD 4], medicine.disease, Middle Ear Ventilation, Pedigree, Radiography, Treatment Outcome, Otorhinolaryngology, El Niño, Mutation, Pediatrics, Perinatology and Child Health, Referral center, Female, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af63b22681493a188b9b3809d3811662Test
    https://hdl.handle.net/2066/140538Test


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  7. 7
    Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry

    المؤلفون: Matthijs Raaben, Sean P. J. Whelan, Peter Meinecke, Marja W. Wessels, Dirk Lefeber, Hans van Bokhoven, Ellen van Beusekom, Arno Velds, Thijn R. Brummelkamp, Haluk Topaloglu, Ron M. Kerkhoven, Vincent A. Blomen, Moniek Riemersma, Lucas T. Jae, Jan E. Carette

    المساهمون: Çocuk Sağlığı ve Hastalıkları, Clinical Genetics

    المصدر: Science; Vol 340
    Science, 340, 6131, pp. 479-83
    Science, 340, 479-83
    Science, 340(6131), 479-483. American Association for the Advancement of Science

    مصطلحات موضوعية: Male, Glycosylation, Proteome, Haploidy, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Lassa fever, Genetics, 0303 health sciences, Mutation, Multidisciplinary, biology, Walker-Warburg Syndrome, Pedigree, 3. Good health, Host-Pathogen Interactions, Science & Technology - Other Topics, Female, lipids (amino acids, peptides, and proteins), musculoskeletal diseases, Glycan, DCN MP - Plasticity and memory, Molecular Sequence Data, Article, Cell Line, 03 medical and health sciences, Lassa Fever, medicine, Humans, Amino Acid Sequence, Pentosyltransferases, Lassa virus, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Infant, Membrane Proteins, Virus Internalization, Glycostation disorders [IGMD 4], medicine.disease, Virology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], carbohydrates (lipids), Membrane protein, chemistry, biology.protein, 030217 neurology & neurosurgery

    وصف الملف: text/plain

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fc15f639a77bbb72c6f5a91cdb1e4e3Test
    http://hdl.handle.net/11655/13894Test


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  8. 8
    Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

    المؤلفون: Derek L. Stemple, Gavin J. Wright, Jeroen van Reeuwijk, Ellen van Beusekom, Gareth T. Powell, Susan Blaser, Tony Roscioli, Hans van Bokhoven, Christa van den Elzen, Erik-Jan Kamsteeg, Moniek Riemersma, Yung-Yao Lin, Dirk Lefeber, Riyana Babul-Hirji, David Chitayat, William Halliday, Karen Buysse

    المصدر: Human Molecular Genetics, 22, 1746-54
    Human Molecular Genetics, 22, 9, pp. 1746-54
    Human Molecular Genetics

    مصطلحات موضوعية: Male, Glycosylation, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Missense mutation, Dystroglycans, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, biology, Homozygote, Chromosome Mapping, Walker-Warburg Syndrome, Articles, General Medicine, Pedigree, 3. Good health, Phenotype, Gene Knockdown Techniques, Congenital muscular dystrophy, Female, Protein Binding, DCN MP - Plasticity and memory, Mutation, Missense, N-Acetylglucosaminyltransferases, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, 03 medical and health sciences, Cell Line, Tumor, medicine, Animals, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Walker–Warburg syndrome, DCN NN - Brain networks and neuronal communication, Molecular Biology, 030304 developmental biology, Infant, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Fukutin, Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Gene Expression Regulation, Muscular Dystrophies, Limb-Girdle, chemistry, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Laminin, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678e8adfb7d596ec55dd5fd9dd0eae40Test
    http://hdl.handle.net/2066/118809Test


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  9. 9
    Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

    المؤلفون: Karin Huijben, Birgit Absmanner, Avraham Lorber, Martin Lammens, Janneke H M Schuurs-Hoeijmakers, Livia Kapusta, Hans van Bokhoven, Ron A. Wevers, Ludwig Lehle, Nili Zucker, Hanna Mandel, Stephanie Grunewald, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Gerry Steenbergen, Adam Jozwiak, Kiek Verrijp, Willem M.R. van den Akker, Dirk J. Lefeber, Eva Morava, Moniek Riemersma, Carlos Knopf

    المصدر: PLoS Genetics
    PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
    Plos Genetics, 7, 12, pp. e1002427-e1002427
    Plos Genetics, 7, e1002427-e1002427

    مصطلحات موضوعية: Male, Cancer Research, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Cardiomyopathy, Gene Expression, Neuroinformatics [DCN 3], Pediatrics, Sudden cardiac death, Sarcolemma, Autosomal Recessive, Pediatric Cardiology, 570 Biowissenschaften, Biologie, Child, Dystroglycans, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Dolichol Phosphates, Genetics, Homozygote, Dilated cardiomyopathy, Functional imaging [IGMD 1], Disease gene identification, musculoskeletal system, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Child, Preschool, Medicine, Female, lipids (amino acids, peptides, and proteins), ddc:570, Research Article, Cardiomyopathy, Dilated, medicine.medical_specialty, Translational research Renal disorder [ONCOL 3], lcsh:QH426-470, Adolescent, Dolichol Kinase Deficiency, Genes, Recessive, Saccharomyces cerevisiae, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnostic Medicine, Internal medicine, medicine, Dystroglycan, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Dolichol kinase, Functional Neurogenomics Renal disorder [DCN 2], Clinical Genetics, Haplotype, Glycostation disorders [IGMD 4], medicine.disease, carbohydrates (lipids), lcsh:Genetics, Endocrinology, Haplotypes, Metabolic Disorders, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

    وصف الملف: application/pdf; Print-Electronic

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482a4eeefe99123ed044ed580043763aTest
    https://epub.uni-regensburg.de/23471Test/


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  10. 10
    DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

    المؤلفون: Hannie Kremer, Guy Van Camp, Katherine Lachlan, Isabelle Schrauwen, Thomas L. Casavant, Leticia Olavarrieta, Adam P. DeLuca, Carla Nishimura, Bruce W. Tompkins, Carmelo Morales-Angulo, Fernando Mayo, Patrick L. M. Huygen, Richard J.H. Smith, Ignacio del Castillo, Maarten Van Wesemael, Terry A. Braun, Felipe Moreno, Michael S. Hildebrand, Kyle R. Taylor, Ángeles Mencía, Silvia Modamio-Høybjør, M A Moreno-Pelayo, Matías Morín, A. Eliot Shearer, Corey W. Goodman, Nicole C. Meyer, Heather Workman

    المصدر: Human Mutation, 32, 7, pp. 825-34
    Human mutation
    Human Mutation, 32, 825-34

    مصطلحات موضوعية: Proband, Adult, Male, Adolescent, Hearing loss, Genetic Linkage, Hearing Loss, Sensorineural, Population, Biology, medicine.disease_cause, GPI-Linked Proteins, Article, 03 medical and health sciences, 0302 clinical medicine, Audiometry, Genetics, medicine, Missense mutation, Humans, TECTA, education, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Aged, 0303 health sciences, Mutation, education.field_of_study, Extracellular Matrix Proteins, Haplotype, Middle Aged, Glycostation disorders [IGMD 4], Founder Effect, Pedigree, Protein Structure, Tertiary, Haplotypes, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Female, Human medicine, medicine.symptom, 030217 neurology & neurosurgery, Founder effect

    وصف الملف: pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deeb3ee61d67b7c48a85bd11d678726dTest
    https://hdl.handle.net/2066/96779Test


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