المؤلفون: Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., AlHarbi NA; Department of Internal Medicine, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. Noaalharbi@pnu.edu.sa., Alqarni AM; Foundation Year of Health Colleges, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Eltayeb HHE; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Mostafa NMM; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.; Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt., Abdulrahim MM; Research and Academic Accreditation, Academic Affairs, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Zaid HIB; Out-Patient department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia., Alanzi LM; Department of Pathology and Laboratory Medicine, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Ababtain SA; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Aldulaijan K; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Aloyouni SY; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Othman MAK; Centogene GmbH, Rostock, Germany., Alkheilewi MA; Health Support Services Centre, Ministry of Health, Riyadh, 12382, Saudi Arabia., Binduraihem AM; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Alrukban HA; Pediatric Department, Division of Genetic and Metabolic, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Ahmed HY; Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia., AlRadini FA; Family and Community Medicine Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Alahdal HM; Department of Biology, College of Science, Princes Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Mushiba AM; Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alzaher OA; Pediatric Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

المصدر: Human genomics [Hum Genomics] 2024 Sep 04; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2024 Sep 04.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 16*/genetics , Chromosome Deletion* , Phenotype* , Microcephaly*/genetics , Microcephaly*/pathology , Microcephaly*/complications , Dandy-Walker Syndrome*/genetics , Dandy-Walker Syndrome*/complications , Dandy-Walker Syndrome*/pathology, Humans ; Female ; DNA Copy Number Variations/genetics ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Child ; Male ; Saudi Arabia ; Child, Preschool ; Autistic Disorder

SCR Disease Name: 16p11.2 Deletion Syndrome

المؤلفون: Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Angelova PR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salazar-Villacorta A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Rodriguez JA; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong SAR, China., Jaconelli M; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany., Esteras N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemistry Research Institute, Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain., Kwong AK; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Courtin T; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Nirujogi R; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Lewis PA; Royal Veterinary College, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Lis P; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Pinon C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Breedveld GJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Chui MM; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Pitz V; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Makarious MB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Cassar M; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Hassan BA; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Iftikhar S; Department of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Bauer P; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Svetel M; Movement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia., Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hanağası HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilgiç B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Obeso JA; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; HM CINAC, Hospital Universitario HM Puerta del Sur, HM Hospitales, Madrid, Spain.; University CEU-San Pablo, Madrid, Spain., Kurtis MM; Neurology Department, Hospital Ruber Internacional, Madrid, Spain., Cogan G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Başak AN; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Kiziltan G; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Gül T; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Yalçın G; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Elibol B; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Barišić N; Department of Pediatrics, University of Zagreb Medical School and University Hospital Center Zagreb, Zagreb, Croatia., Ng EW; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fan SS; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Hershkovitz T; The Genetics Institute, Galilee Medical Center, Nahariya, Israel., Weiss K; Genetics Institute, Rambam Health Care Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel., Raza Alvi J; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Azmi Alkhawaja I; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan., Froukh T; Department of Biotechnology and Genetics Engineering, Philadelphia University, Jordan., E Alrukban HA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Zöggeler T; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Varghese V; All Wales Medical Genomics Service, Cardiff, United Kingdom., Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom., Blauwendraat C; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hardy JA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Bonifati V; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany., Bertoli-Avella AM; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Steinfeld R; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany., Alessi DR; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Steller H; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Brice A; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 20. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sadagopan M; CENTOGENE GmbH, Rostock, Germany., Martini J; CENTOGENE GmbH, Rostock, Germany., Al-Ali R; CENTOGENE GmbH, Rostock, Germany., Radefeldt M; CENTOGENE GmbH, Rostock, Germany., Ataei M; CENTOGENE GmbH, Rostock, Germany., Lemke S; CENTOGENE GmbH, Rostock, Germany., Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Mutairi F; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia., Ababneh F; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia., AlRukban HA; Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhajj SM; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bauer P; CENTOGENE GmbH, Rostock, Germany.; University Medicine Rostock, Center for internal Medicine, Rostock, Germany., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

المصدر: Human genetics [Hum Genet] 2023 Oct; Vol. 142 (10), pp. 1491-1498. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Encephalitis* , Ichthyosis*/genetics, Child ; Humans ; Alleles ; Causality ; Fibroblasts