المؤلفون: Karen Duran, Esther de Graaff, Mieke M. van Haelst, Glen R. Monroe, Helen V. Firth, Sanne M C Savelberg, Federico Tessadori, Isaac J. Nijman, Philip L. Beales, Casper C. Hoogenraad, Magdalena Harakalova, Bert van der Zwaag, Nine V A M Knoers, Dragana Josifova, Sarju G. Mehta, Heinz Jungbluth, Gijs van Haaften, Jeroen Bakkers

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Other departments

المصدر: Human Molecular Genetics. Oxford University Press
Human Molecular Genetics, 25(11), 2158-2167. Oxford University Press
Josifova, D J, Monroe, G R, Tessadori, F, de Graaff, E, van der Zwaag, B, Mehta, S G, Harakalova, M, Duran, K J, Savelberg, S M C, Nijman, I J, Jungbluth, H, Hoogenraad, C C, Bakkers, J, Knoers, N V, Firth, H V, Beales, P L, van Haaften, G, van Haelst, M M 2016, ' Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddw082
Josifova, D, Monroe, G R, Tessadori, F, de Graaff, E, van der Zwaag, B, Mehta, S, Harakalova, M, Duran, K J, Savelberg, S M C, Nijman, I J, Jungbluth, H, Hoogenraad, C, Bakkers, J P W, Koers, N, Firth, H V, Beales, P L, Van Haaften, G & van Haelst, MM 2016, ' Heterozygous KIDINS220/ARMS Nonsense Variants Cause Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity ', Human Molecular Genetics, vol. 25, 10.1093/hmg/ddw082, pp. 2158-2167 .
Human Molecular Genetics, 25(11), 2158. Oxford University Press
Human Molecular Genetics, 25:10.1093/hmg/ddw082, 2158-2167. Oxford University Press
Human molecular genetics, 25(11), 2158-2167. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Neurons/metabolism, Obesity/genetics, PC12 Cells, Exon, Nystagmus, 0302 clinical medicine, Nystagmus, Congenital/genetics, Nerve Tissue Proteins/genetics, Zebrafish, Genetics (clinical), media_common, Genetics, Neurons, Congenital/genetics, General Medicine, Paraplegia/genetics, medicine.anatomical_structure, Codon, Nonsense, Nystagmus, Congenital, Neurites/metabolism, Protein Binding, Signal Transduction, media_common.quotation_subject, Alternative Splicing/genetics, Neurogenesis, Nonsense, Nerve Tissue Proteins, Biology, Protein Binding/genetics, 03 medical and health sciences, Zebrafish Proteins/genetics, Intellectual Disability, Journal Article, medicine, Neurites, Animals, Humans, splice, Obesity, Membrane Proteins/genetics, Codon, Molecular Biology, Paraplegia, Animal, Alternative splicing, Membrane Proteins, Heterozygote advantage, Zebrafish Proteins, biology.organism_classification, Intellectual Disability/genetics, Rats, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, Disease Models, Neuron, Neurogenesis/genetics, 030217 neurology & neurosurgery

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62307211be4cf3df24b6977f1c115c9
https://pure.knaw.nl/portal/en/publications/4828a89e-21a5-4f87-a333-15be0da767c9

المؤلفون: Alina A. Zubcov, Michael C. Brodsky, N. Sarvananthan, Rajiv D. Machado, M. Koch, Richard W. Hertle, Robert D. Reinecke, S. Thomas, Randy J. Read, Claire Stevens, Geoffrey Woodruff, Richard C. Trembath, Sarah O’Meara, Sarah Edkins, Michael R. Stratton, Jon W. Teague, M. Awan, F. Lucy Raymond, Adrian Parker, Steven Lisgo, Ioannis Asproudis, Andrea Langmann, Colin Veal, Richard Wooster, Chris Degg, E.O. Roberts, Susanne Lindner, M. Surendran, S. L. Jain, Cris S. Constantinescu, Christopher J. Talbot, Christina Pieh, Irene Gottlob, Patrick S. Tarpey, Richard P. Gale, Rebecca J. McLean, P. Andrew Futreal, Konstantinos Droutsas, David G. Hunter, Oliver C. Backhouse, L Baumber, Uma Mallya

المصدر: Nature Genetics. 38:1242-1244

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Nystagmus, Congenital/*genetics, Brain/embryology/metabolism, genetic structures, Genetic Linkage, Eye disease, Eye Movements/genetics/physiology, Genes, X-Linked, Cytoskeletal Proteins/*genetics/physiology, Nystagmus, Biology, Membrane Proteins/*genetics/physiology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Internal medicine, Genetics, medicine, Humans, Mutation/physiology, X chromosome, 030304 developmental biology, Chromosomes, Human, X, Retina/metabolism, 0303 health sciences, Retina, Mutation, Chromosome Mapping, Gene Expression Regulation, Developmental, Eye movement, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Endocrinology, 030221 ophthalmology & optometry, Female, medicine.symptom, Congenital nystagmus

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab3e5f3f3ba37ac427be7449f966bc70
https://doi.org/10.1038/ng1893