المؤلفون: Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 0301 basic medicine, Molecular biology, Placenta, lcsh:Medicine, Diseases, Pathogenesis, medicine.disease_cause, Animals, Genetically Modified, Mice, 0302 clinical medicine, Pregnancy, lcsh:Science, Zebrafish, Sorting Nexins, Phospholipids, 0303 health sciences, Mutation, Multidisciplinary, Molecular medicine, Biological techniques, Cell Differentiation, Phenotype, Cell biology, Trophoblasts, Neurology, Models, Animal, Spinocerebellar ataxia, Female, Embryonic Development, Biology, Article, 03 medical and health sciences, Developmental biology, medicine, Genetics, Animals, Humans, Spinocerebellar Ataxias, Fetal Viability, Gene, Loss function, 030304 developmental biology, lcsh:R, Lipid metabolism, biology.organism_classification, medicine.disease, Lipid Metabolism, Mice, Inbred C57BL, Sorting nexin, 030104 developmental biology, lcsh:Q, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772Test
http://hdl.handle.net/10044/1/90147Test

المؤلفون: Gudrun E. Moore, Miho Ishida, Miguel Alsina Casanova, Julio Moreno Hernando, Franck Court, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Elisenda Moliner Calderon, David Monk, Carlota Rovira Zurriaga, M. Castañón, Loreto Martorell, Isabel Gazquez Serrano

المصدر: Human Mutation. 38:615-620

مصطلحات موضوعية: 0301 basic medicine, Alveolar capillary dysplasia, Genetics, Non-Mendelian inheritance, Point mutation, Parenteral transmission, Methylation, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, DNA methylation, medicine, Allele, Genomic imprinting, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::292d054b18e4d55c1970645b03b46342Test
https://doi.org/10.1002/humu.23213Test

المؤلفون: Mina Ryten, Sérgio B. Sousa, Richard H Scott, Estelle Chanudet, Glenn Anderson, Lionel Van Maldergem, Dagan Jenkins, Philip L. Beales, Krystyna H. Chrzanowska, James Docker, Jorge M. Saraiva, Philip Stanier, Gudrun E. Moore, Miho Ishida, Angela Barnicoat, Joaquim Sá, Martina Simandlova, Duangrurdee Wattanasirichaigoon, Guergana Tasseva, Jean E. Vance, Alistair Calder

المصدر: Nature Genetics. 46:70-76

مصطلحات موضوعية: Male, Fosfatidilserinas, Embryo, Nonmammalian, Adolescent, Nitrogenous Group Transferases, Molecular Sequence Data, Dwarfism, Phosphatidylserines, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Cells, Cultured, Zebrafish, 030304 developmental biology, Transferases de Grupos Nitrogenados, Phosphatidylethanolamine, 0303 health sciences, Mutation, Deficiência Intelectual, Syndrome, Phosphatidylserine, Fibroblasts, Hyperostosis, medicine.disease, 3. Good health, chemistry, Craniotubular Hyperostosis, Female, Anomalias Congénitas Múltiplas, 030217 neurology & neurosurgery, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9095fc09a7d92cabf8a2a5dc6673d2d1Test
https://doi.org/10.1038/ng.2829Test

المؤلفون: Jorge M. Saraiva, Henry Houlden, S. Seto-Salvia, Mary O'Sullivan, Mina Ryten, Dawn E. Saunders, Francesco Lescai, A. Straatmaan-Iwanowska, B. Farren, Joshua Hersheson, Chela James, Nicholas W. Wood, Sérgio B. Sousa, Hywel Williams, Chiara Bacchelli, Konstantinos Mengrelis, Miho Ishida, Jane A. Hurst, Richard H. Scott, Bertrand Vernay, Andrew J. Duncan, Glenn Anderson, Gudrun E. Moore, Estelle Chanudet, Paul Gissen, Louise Ocaka, Philip Stanier, Dagan Jenkins, Anna C. Thomas, Deborah Morrogh, Y.J. Pai, Fabiana Ramos, Frank Baas, Maria Bitner-Glindzicz

المساهمون: ANS - Amsterdam Neuroscience, Genome Analysis

المصدر: Thomas, A C, Williams, H, Setõ-Salvia, N, Bacchelli, C, Jenkins, D, O'Sullivan, M, Mengrelis, K, Ishida, M, Ocaka, L, Chanudet, E, James, C, Lescai, F, Anderson, G, Morrogh, D, Ryten, M, Duncan, A J, Pai, Y J, Saraiva, J M, Ramos, F, Farren, B, Saunders, D, Vernay, B, Gissen, P, Straatmaan-Iwanowska, A, Baas, F, Wood, N W, Hersheson, J, Houlden, H, Hurst, J, Scott, R, Bitner-Glindzicz, M, Moore, G E, Sousa, S B & Stanier, P 2014, ' Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome ', American Journal of Human Genetics, vol. 95, no. 5, pp. 611-621 . https://doi.org/10.1016/j.ajhg.2014.10.007Test
American journal of human genetics, 95(5), 611-621. Cell Press

مصطلحات موضوعية: Male, Cerebellar Ataxia, Molecular Sequence Data, Genes, Recessive, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Report, Intellectual disability, Ataxia Cerebelar, Genetics, Humans, Medicine, Genetics(clinical), Gene Regulatory Networks, 10. No inequality, Sorting Nexins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Deficiência Intelectual, Chromosome Mapping, Autosomal recessive cerebellar ataxia, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Human genetics, Pedigree, Microscopy, Electron, Codon, Nonsense, Nexinas de Classificação, Female, Erratum, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7736db6330ca9502b0eb973aa687b8eaTest