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31دورية أكاديمية
المؤلفون: Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Hanène Benrhouma, Maria Alessandra Carluccio, Francesca Darra, Ágnes Máté, Alíz Zimmermann, N. Gouider‐Khouja, Enza Maria Valente
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Imprinting and Parental Gene Expression Control, Hedgehog Signaling in Development and Cancer, Molecular Biology, Ciliopathies, Ciliopathy, Joubert syndrome, Biology, Phenotype, Cilium, Gene
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المؤلفون: Flora Silberman, Laura A. Devlin, Elisa Molinari, Kathryn White, David H. W. Steel, John A. Sayer, Simon A. Ramsbottom, Charline Henry, Sumaya Alkanderi, Sophie Saunier, Colin G. Miles, Shalabh Srivastava
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: 0301 basic medicine, Male, Medical Sciences, Adolescent, antisense oligonucleotide therapy, Cell Cycle Proteins, Cep290, 030105 genetics & heredity, Kidney, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Mice, Antigens, Neoplasm, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Eye Abnormalities, cystic kidney, Cells, Cultured, Cystic kidney, Multidisciplinary, business.industry, Cilium, Ciliary transition zone, Nuclear Proteins, Epithelial Cells, Exons, Biological Sciences, Kidney Diseases, Cystic, medicine.disease, Exon skipping, 3. Good health, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, Mutation, Cancer research, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0126830e44fb3472a8aa56cbccc901fTest
http://europepmc.org/articles/PMC6298104Test -
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المؤلفون: Ruikun Hu, Ying Cao, Hong Wang, Jingyu Li, Miaomiao Jin, Weilai Huang, Wenyan Xu
المصدر: The FASEB Journal. 33:2848-2857
مصطلحات موضوعية: 0301 basic medicine, Cilium, Biology, medicine.disease, Biochemistry, Joubert syndrome, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Ezrin, chemistry, Ciliogenesis, INPP5E, Genetics, medicine, Polycystic kidney disease, Basal body, Phosphatidylinositol, Molecular Biology, 030217 neurology & neurosurgery, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eed907e84654d47f4de8fd96266cd104Test
https://doi.org/10.1096/fj.201800385rrrTest -
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المؤلفون: Henry Houlden, Bert B.A. de Vries, Eva Pajkrt, Julie C. Van De Weghe, Caroline C W Klaver, Michael J. Bamshad, Inge B. Mathijssen, Majid Mojarrad, Deborah A. Nickerson, Jennifer C. Dempsey, Elizabeth van Leeuwen, Atieh Eslahi, Dan Doherty, Reza Maroofian, Mahsa Mohajeri, Dorien Lugtenberg, Caitlin V. Miller, Vimla Aggarwal, Aoife M. Waters, Jessica Giordano
المساهمون: Human genetics, Obstetrics and gynaecology, Human Genetics, Obstetrics and Gynaecology, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Quality of Care, Ophthalmology
المصدر: Human Genetics and Genomics Advances, 2(1):100016. Cell Press
HGG advances
HGG Advances, Vol 2, Iss 1, Pp 100016-(2021)
University of Washington Center for Mendelian Genomics 2021, ' TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes ', Human Genetics and Genomics Advances, vol. 2, no. 1, 100016 . https://doi.org/10.1016/j.xhgg.2020.100016Test
HGG Advances, 2, 1
HGG Advances, 2مصطلحات موضوعية: Meckel syndrome, Biology, QH426-470, Ciliopathies, Joubert syndrome, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, primary cilia, medicine, Genetics, retinal dystrophy, Exome, TMEM218, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Polydactyly, Cilium, cilia, Ciliary transition zone, medicine.disease, Ciliopathy, ciliopathy, Molecular Medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9320a2754978790bb5943c5668224570Test
https://openaccess.sgul.ac.uk/id/eprint/113129/1/1-s2.0-S2666247720300166-main.pdfTest -
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المؤلفون: Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Muqing Cao
المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Case Report, Biology, Compound heterozygosity, Ciliopathies, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, MKS1, Genetics, medicine, Genetics (clinical), Exome sequencing, Polydactyly, Cilium, cilia, B9 proteins, medicine.disease, Hypotonia, Ciliopathy, lcsh:Genetics, 030104 developmental biology, ciliopathy, 030220 oncology & carcinogenesis, Molecular Medicine, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905f224124da13386543a752788da880Test
https://www.frontiersin.org/article/10.3389/fgene.2020.576235/fullTest -
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المؤلفون: Angela D'Anzi, Giuseppe Lamorte, Angelo L. Vescovi, Iolanda Spasari, Daniela Ferrari, Jessica Rosati, Filomena Altieri, Enza Maria Valente, Laura Bernardini, Silvia Tardivo, Francesco Martello, Gianluigi Mazzoccoli
المساهمون: Altieri, F, D'Anzi, A, Martello, F, Tardivo, S, Spasari, I, Ferrari, D, Bernardini, L, Lamorte, G, Mazzoccoli, G, Valente, E, Vescovi, A, Rosati, J
المصدر: Stem Cell Research
Stem Cell Research, Vol 38, Iss, Pp-(2019)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Joubert syndrome, iPSC, neurodevelopmental disorder, Induced Pluripotent Stem Cells, Mutation, Missense, Biology, medicine.disease_cause, Ciliopathies, Joubert syndrome, Article, Retina, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Cerebellum, medicine, Missense mutation, Basal body, Humans, Abnormalities, Multiple, Eye Abnormalities, lcsh:QH301-705.5, Gene, Mutation, iPSC, Cilium, Homozygote, BIO/13 - BIOLOGIA APPLICATA, Cell Biology, General Medicine, Kidney Diseases, Cystic, medicine.disease, neurodevelopmental disorder, Molecular biology, Induced Pluripotent Stem Cells, Joubert Syndrome, 3. Good health, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, lcsh:Biology (General), 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827efcd243eff2a77b31eea48ecffb30Test
http://europepmc.org/articles/PMC6617992Test -
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المؤلفون: Brunella Franco, Manuela Morleo
المساهمون: Morleo, M, Franco, B, Morleo, M., Franco, B.
المصدر: Biochemical Society transactions. 48(5)
مصطلحات موضوعية: Cell type, Cytoplasm, Biology, Kidney, Biochemistry, Chromatin remodeling, Joubert syndrome, Retina, 03 medical and health sciences, Rare Diseases, Cerebellum, medicine, Basal body, Animals, Humans, Abnormalities, Multiple, DNA Breaks, Double-Stranded, Cilia, Eye Abnormalities, Gene, 030304 developmental biology, Primary ciliary dyskinesia, Cell Nucleus, Centrosome, 0303 health sciences, Chromosomes, Human, X, Cilium, 030305 genetics & heredity, Cell Cycle, Cell Membrane, Proteins, Genetic Diseases, X-Linked, Kidney Diseases, Cystic, medicine.disease, pleiotropic protein, Chromatin, Cell biology, Ciliopathy, Phenotype, Mutation, OFD1, Retinitis Pigmentosa, Ciliary Motility Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dbf3ffbe141f14b353d1c34cd871f90Test
https://pubmed.ncbi.nlm.nih.gov/32897366Test -
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مصطلحات موضوعية: Phenocopy, Genetics, Ciliopathy, biology, Cilium, medicine, Missense mutation, biology.organism_classification, medicine.disease, Compound heterozygosity, Ciliopathies, Caenorhabditis elegans, Joubert syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f350dd85bf5464d5924f24451e74821Test
https://doi.org/10.1101/2020.05.22.110668Test -
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المؤلفون: Valérie Cormier-Daire, Marion Lenoir, Geneviève Baujat, Céline Huber, Elise Brischoux-Boucher, Thibaud Dabudyk, Caroline Michot, Lionel Van Maldergem, Emilien Faudi, Juliette Piard
المساهمون: Centre de génétique humaine [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de réanimation infantile, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques, Service de radiologie [CHRU Besancon], Laboratoire de Neurosciences Intégratives et Cliniques - UFC (EA 481) (NEURO), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre d'Investigation Clinique de Besançon (Inserm CIC 1431), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.103823-. ⟨10.1016/j.ejmg.2019.103823⟩مصطلحات موضوعية: Male, Ellis-Van Creveld Syndrome, Skeletal survey, [SDV]Life Sciences [q-bio], Ciliopathies, Joubert syndrome, 03 medical and health sciences, Genetics, Humans, Medicine, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Cilium, 030302 biochemistry & molecular biology, General Medicine, Anatomy, medicine.disease, Hypotonia, 3. Good health, Dysplasia, Child, Preschool, Mutation, Presentation (obstetrics), medicine.symptom, business, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931fb6245f59f856782285cf46378affTest
https://hal.archives-ouvertes.fr/hal-03489549Test -
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المؤلفون: Sylvia E. C. van Beersum, Stephan C.F. Neuhauss, Jeroen van Reeuwijk, Fowzan S. Alkuraya, Mostafa Asadollahi, Julie C. Van De Weghe, Marius Ueffing, Manali Chitre, Dan Doherty, Arezou Karamzade, Caitlin V. Miller, Stef J.F. Letteboer, Tamara D.S. Rusterholz, Michael J. Bamshad, Megan E. Grout, Ruxandra Bachmann-Gagescu, Matthias Gesemann, Heba Morsy, Karsten Boldt, Ronald Roepman, John A. Sayer, Miguel Barroso-Gil, Jennifer C. Dempsey, Ranad Shaheen, Arianna Gomez, Brooke L. Latour, Mohammad Keramatipour, Deborah A. Nickerson
المساهمون: University of Zurich
المصدر: Journal of Clinical Investigation, 130, 8, pp. 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Hindbrain, Joubert syndrome, Retina, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Polyglutamylation, Zebrafish, Armadillo Domain Proteins, biology, Cilium, Acetylation, General Medicine, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, biology.organism_classification, 10124 Institute of Molecular Life Sciences, Cell biology, Ciliopathy, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030220 oncology & carcinogenesis, Armadillo repeats, 570 Life sciences, CRISPR-Cas Systems, Peptides, Research Article
وصف الملف: application/pdf; 131656.1-20200519151036_Dysfunction.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7189d0e48e47effe94af8b9a01c7cfTest
