المؤلفون: Mateusz C. Ambrozkiewicz, Katherine J. Cuthill, Dermot Harnett, Hiroshi Kawabe, Victor Tarabykin

المصدر: Cells; Volume 9; Issue 11; Pages: 2455

مصطلحات موضوعية: ubiquitin, E3 ubiquitin ligase, UBE3A, UBE3B, UBE3C, Angelman syndrome, Kaufman oculocerebrofacial syndrome, autism spectrum disorder

وصف الملف: application/pdf

العلاقة: Cells of the Nervous System; https://dx.doi.org/10.3390/cells9112455Test

الإتاحة: https://doi.org/10.3390/cells9112455Test

المؤلفون: Gülen Eda Utine, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Beren Karaosmanoglu, Ekim Z. Taskiran, Koray Boduroğlu, Gizem Ürel-Demir, Busra Aydin

المصدر: Mol Syndromol

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Microcephaly, business.industry, 030305 genetics & heredity, Microtia, Telecanthus, Gene mutation, medicine.disease, Kaufman oculocerebrofacial syndrome, Dermatology, Blepharophimosis, 03 medical and health sciences, Ptosis, Novel Insights from Clinical Practice, Failure to thrive, Genetics, medicine, medicine.symptom, business, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36799ac047b4b9cfd610136303eb3b34Test
https://doi.org/10.1159/000513078Test

المؤلفون: Venhoranta, Heli, Pausch, Hubert, Flisikowski, Krzysztof, Wurmser, Christine, Taponen, Juhani, Rautala, Helena, Kind, Alexander, Schnieke, Angelika, Fries, Ruedi, Lohi, Hannes, Andersson, Magnus

المساهمون: Departments of Faculty of Veterinary Medicine, Production Animal Medicine, Veterinary Biosciences, Animal Reproduction Science

مصطلحات موضوعية: Kaufman oculocerebrofacial syndrome, Increased juvenile mortality, Intellectual disability, Structural malformation, UBE3B, Bovine, Splicing cite mutation, STRUCTURE PREDICTION, SPLICING ENHANCERS, ANGELMAN-SYNDROME, GENE, MUTATIONS, POPULATION, SPECTRUM, TOOL, WEB, 413 Veterinary science

وصف الملف: application/pdf

العلاقة: The authors would like to thank Sari Alhainen whose input in sample collection was indispensable. Thanks to veterinarians Mari Niemi, Kalle Hakala, Leena Pohjola and Sami Savolainen for collection of blood samples and professor Antti Iivanainen who also participated in sample collection. We would like to express our gratitude to Semex Finland Oy and VikingGenetics for providing the AI bull semen samples. Thanks to Minna Toivonen and Seppo Niskanen for pedigree information of the bulls. The efforts and cooperation of all farmers and the assistance of Sini Karjalainen and Lotta Yli-Kohtamaki in DNA extraction is highly appreciated. This work was supported by the Finnish Veterinary Foundation.; Venhoranta , H , Pausch , H , Flisikowski , K , Wurmser , C , Taponen , J , Rautala , H , Kind , A , Schnieke , A , Fries , R , Lohi , H & Andersson , M 2014 , ' In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle ' , BMC Genomics , vol. 15 , 890 . https://doi.org/10.1186/1471-2164-15-890Test; 84930810839; bbf4c1e9-9dc8-4a11-bb9c-826e6896a81d; http://hdl.handle.net/10138/163052Test; 000343180600002

الإتاحة: http://hdl.handle.net/10138/163052Test

المؤلفون: Rachel Straussberg, Marta Rosário, Guntram Borck, Victor Tarabykin, Olaf Jahn, Stephen Horan, A Ioana Weber, Rüstem Yilmaz, Ekrem Dere, Alina Smorodchenko, Hong Jun Rhee, Jeong-Seop Rhee, Susanne Mueller, Katrin I. Willig, Philipp Boehm-Sturm, Manuela Schwark, Mateusz C. Ambrozkiewicz, Sami Zaqout, Ekaterina Borisova, Theres Schaub, Bekir Altas, Silvia Ripamonti, Hiroshi Kawabe, Lars Piepkorn

المصدر: Molecular Psychiatry. 26:1980-1995

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Dendritic spine, Dendritic Spines, Ubiquitin-Protein Ligases, Kaufman oculocerebrofacial syndrome, Limb Deformities, Congenital, Hippocampal formation, Synapse, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, synapse, Intellectual Disability, medicine, Animals, Eye Abnormalities, Molecular Biology, Mice, Knockout, Phenocopy, biology, Calcineurin, Facies, medicine.disease, Phenotype, Cell biology, Ubiquitin ligase, Psychiatry and Mental health, 030104 developmental biology, Ube3b, Mutation, Synapses, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36d6fb6e1cc9ce957bdec42b0152020Test
https://doi.org/10.1038/s41380-020-0714-8Test

المؤلفون: Kristen Wigby, Carolina I. Galarreta, Marilyn C. Jones

المصدر: Clinical Dysmorphology. 28:175-183

مصطلحات موضوعية: Male, Microcephaly, medicine.medical_specialty, Hearing loss, Ubiquitin-Protein Ligases, Limb Deformities, Congenital, Kaufman oculocerebrofacial syndrome, Pathology and Forensic Medicine, Ptosis, Intellectual Disability, Intellectual disability, medicine, Humans, Laryngomalacia, Genetic Predisposition to Disease, Eye Abnormalities, Craniofacial, Genetic Association Studies, Genetics (clinical), Whole Genome Sequencing, business.industry, Siblings, Facies, Infant, General Medicine, medicine.disease, Dermatology, Blepharophimosis, Phenotype, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee71267e8fa2b2161ab394719f323c7Test
https://doi.org/10.1097/mcd.0000000000000282Test

المؤلفون: Venhoranta, Heli, Pausch, Hubert, Flisikowski, Krzysztof, Wurmser, Christine, Taponen, Juhani, Rautala, Helena, Kind, Alexander, Schnieke, Angelika, Fries, Ruedi, Lohi, Hannes, Andersson, Magnus

المصدر: BMC Genomics, 15

مصطلحات موضوعية: Kaufman oculocerebrofacial syndrome, Increased juvenile mortality, Intellectual disability, Structural malformation, UBE3B, Bovine, Splicing cite mutation, info:eu-repo/classification/ddc/570, Life sciences

وصف الملف: application/application/pdf

العلاقة: http://hdl.handle.net/20.500.11850/161515Test

الإتاحة: https://doi.org/20.500.11850/161515Test
https://doi.org/10.3929/ethz-b-000161515Test
https://doi.org/10.1186/1471-2164-15-890Test
https://hdl.handle.net/20.500.11850/161515Test

المؤلفون: Ürel-Demir G. (10103107), Aydın B. (10103110), Karaosmanoğlu B. (10103113), Akgün-Doğan Ö. (10103116), Taşkıran E.Z. (10103119), Şimşek-Kiper P.Ö. (10103122), Utine G.E. (10103125), Boduroğlu K. (10103128)

مصطلحات موضوعية: Medicine, Kaufman oculocerebrofacial syndrome, UBE3B, Blepharophimosis-mental retardation syndromes, Intellectual disability, Oculoauriculovertebral spectrum

العلاقة: https://figshare.com/articles/dataset/Supplementary_Material_for_Two_Siblings_with_Kaufman_Oculocerebrofacial_Syndrome_Resembling_Oculoauriculovertebral_Spectrum/13720471Test

الإتاحة: https://doi.org/10.6084/m9.figshare.13720471.v1Test

المؤلفون: Hannelore Ehrenreich, Stephen Horan, Guntram Borck, Rüstem Yilmaz, Victor Tarabykin, Olaf Jahn, Ekrem Dere, Ekaterina Borisova, Silvia Ripamonti, Hiroshi Kawabe, Manuela Schwark, Marta Rosário, Mateusz C. Ambrozkiewicz, Katrin I. Willig, Jeong-Seop Rhee, Lars Piepkorn, Theres Schaub, Bekir Altas

مصطلحات موضوعية: Phenocopy, 0303 health sciences, Microcephaly, Dendritic spine, biology, Hippocampal formation, medicine.disease, Kaufman oculocerebrofacial syndrome, Phenotype, Cell biology, Ubiquitin ligase, Synapse, 03 medical and health sciences, 0302 clinical medicine, biology.protein, medicine, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7b4a309974d0ff6ce9870a6a382df2bTest

المؤلفون: Kwame Anyane-Yeboa, Patrick P. Koty, Wenqi Zeng, Christiane Zweier, Guntram Borck, Nils Rahner, Rüstem Yilmaz, Dorothy K. Grange, Heinrich Sticht, Lina Basel-Vanagaite, Nathalie Boddaert, Christian Kubisch, Heather Feenstra, Tamison Jewett, André Reis, Sha Tang, Megan Mortenson, Miriam S. Reuter, Julie Désir, Kelly Gonzalez

المصدر: Human Genetics. 133:939-949

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Limb Deformities, Congenital, Biology, medicine.disease_cause, Compound heterozygosity, Kaufman oculocerebrofacial syndrome, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Eye Abnormalities, Child, Genetics (clinical), Exome sequencing, Mutation, Homozygote, Facies, Infant, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Cholesterol, Phenotype, Child, Preschool, Failure to thrive, Microcephaly, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a61045a0cade897247238c64428babTest
https://doi.org/10.1007/s00439-014-1436-2Test

المؤلفون: Anna Altmann, Lina Basel-Vanagaite, Olga Calabrese, Katalin Szakszon, Guntram Borck, Rüstem Yilmaz, Marianne McGuire, Umut Altunoglu, Suneeta Madan-Khetarpal, Leyli Senturk

المصدر: American journal of medical genetics. Part A. 176(1)

مصطلحات موضوعية: 0301 basic medicine, Diagnostic Imaging, medicine.medical_specialty, Microcephaly, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Limb Deformities, Congenital, Upslanted palpebral fissure, Kaufman oculocerebrofacial syndrome, 03 medical and health sciences, Genetic Heterogeneity, Intellectual Disability, Intellectual disability, Genetics, Medicine, Humans, Eye Abnormalities, Child, Genetics (clinical), Genetic Association Studies, business.industry, Genetic heterogeneity, Facies, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, Short palpebral fissure, medicine.disease, Dermatology, Blepharophimosis, 030104 developmental biology, Phenotype, Anteverted nares, Mutation, Female, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71916404f8bbaee1dc7806521e98432eTest
https://pubmed.ncbi.nlm.nih.gov/29160006Test