المؤلفون: Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen

المصدر: Human Mutation

مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7Test
https://doi.org/10.1002/humu.24127Test

المؤلفون: Gulten Tuncel, Yeliz Engindereli, Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Bahar Kaymakamzade

المصدر: Genes, Vol 12, Iss 945, p 945 (2021)
Genes
Volume 12
Issue 6

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Mutation, Missense, AHI1, Disease, QH426-470, Retina, Article, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, medicine, CC2D1A, Genetics, Humans, Abnormalities, Multiple, Eye Abnormalities, Oculomotor apraxia, Gene, Genetics (clinical), business.industry, Cilium, Homozygote, Kidney Diseases, Cystic, medicine.disease, Phenotype, Ciliopathies, eye diseases, Adaptor Proteins, Vesicular Transport, Ciliopathy, 030104 developmental biology, ciliopathy, business, 030217 neurology & neurosurgery, Truncal ataxia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54bbcce5d9942a67d990ee279d5546ccTest
https://www.mdpi.com/2073-4425/12/6/945Test

المؤلفون: Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang

المصدر: The American Journal of Human Genetics. 104:731-737

مصطلحات موضوعية: Male, Adolescent, Turkey, Genes, Recessive, Biology, Nervous System Malformations, Ciliopathies, Retina, Joubert syndrome, Consanguinity, 03 medical and health sciences, Report, Cerebellum, Ciliogenesis, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Cilia, Eye Abnormalities, Alleles, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Polydactyly, Genetic heterogeneity, Cilium, Homozygote, 030305 genetics & heredity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Orofaciodigital Syndromes, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, Phenotype, Child, Preschool, Mutation, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4Test
https://doi.org/10.1016/j.ajhg.2019.02.018Test

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

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

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

المؤلفون: Kathryn White, Charline Henry, Colin G. Miles, Shalabh Srivastava, Sophie Saunier, Andrew Filby, John A. Sayer, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Purmorphamine, Male, Cell Cycle Proteins, 0302 clinical medicine, Cerebellum, Eye Abnormalities, Sonic hedgehog, Child, Genetics (clinical), Polycystic Kidney Diseases, biology, Cilium, General Medicine, Articles, Kidney Diseases, Cystic, 3. Good health, Neoplasm Proteins, Pedigree, Child, Preschool, Signal Transduction, Morpholines, Primary Cell Culture, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Nephronophthisis, Antigens, Neoplasm, Genetics, medicine, Roscovitine, Humans, Abnormalities, Multiple, Cilia, Molecular Biology, Cyclin-dependent kinase 5, Cyclin-Dependent Kinase 5, Epithelial Cells, medicine.disease, Ciliopathies, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, Purines, Mutation, Cancer research, biology.protein, Kidney Failure, Chronic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5036495870f3b3b7ad9acaed87a7d22fTest
http://europepmc.org/articles/PMC5886250Test

المؤلفون: Emre Canverenler, Barış Büke, Hatice Akkaya, Semiha Canverenler, Göksun İpek

المصدر: Journal of Medical Ultrasonics. 44:197-202

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Ciliopathies, Retina, Ultrasonography, Prenatal, Joubert syndrome, Diagnosis, Differential, Young Adult, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Pregnancy, Nephronophthisis, Cerebellum, medicine, Humans, Abnormalities, Multiple, Radiology, Nuclear Medicine and imaging, Eye Abnormalities, Polydactyly, business.industry, Cilium, Infant, Newborn, General Medicine, Kidney Diseases, Cystic, medicine.disease, Hypotonia, Fetal Diseases, 030104 developmental biology, Female, Differential diagnosis, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd4c8837eb0f410bde5c3ceba5d8a5cdTest
https://doi.org/10.1007/s10396-016-0751-8Test

المؤلفون: Ezequiel M. Salido, Thamaraiselvi Saravanan, Abigail R. Moye, Tanya L. Dilan, Andrew F.X. Goldberg, Visvanathan Ramamurthy, Saravanan Kolandaivelu

مصطلحات موضوعية: Male, Aging, Axoneme, genetic structures, Joubert syndrome, Retina, 03 medical and health sciences, chemistry.chemical_compound, Gene Knockout Techniques, Mice, 0302 clinical medicine, Intraflagellar transport, medicine, Basal body, Animals, Sensory Rhodopsins, Small GTPase, Cilia, Eye Proteins, Research Articles, 030304 developmental biology, 0303 health sciences, Organelle Biogenesis, biology, ADP-Ribosylation Factors, General Neuroscience, Cilium, Gene Expression Regulation, Developmental, Retinal, medicine.disease, Rod Cell Outer Segment, eye diseases, Cell biology, Mice, Inbred C57BL, Protein Transport, chemistry, Rhodopsin, biology.protein, Female, sense organs, 030217 neurology & neurosurgery, Visual phototransduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79db1fa7a6211c806477dce241bcb2c1Test
https://europepmc.org/articles/PMC6381253Test/

المؤلفون: John Hoon Rim, Sumeda Nandadasa, Jan Halbritter, Heon Yung Gee, Suneel S. Apte, Friedhelm Hildebrandt, Sidharth Kumar Sethi, Friederike Körber, Richard P. Lifton, Bodo B. Beck, Yo Jun Choi, David Schapiro, Daniela A. Braun, Markus Schueler, Shirlee Shril, Won-Il Choi, Eugen Widmeier

مصطلحات موضوعية: 0301 basic medicine, Male, endocrine system, ADAMTS9 Protein, Biology, Ciliopathies, Joubert syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, Nephronophthisis, Spheroids, Cellular, Genetics, medicine, Animals, Humans, Cilia, Genetics (clinical), Exome sequencing, Zebrafish, Polycystic Kidney Diseases, Cilium, Zebrafish Proteins, medicine.disease, Disease gene identification, Molecular biology, Hedgehog signaling pathway, Ciliopathy, 030104 developmental biology, Phenotype, Mutation, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b371a0da5bfc3a6190f226d36385f6Test
https://europepmc.org/articles/PMC6323550Test/