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A critical review of the impact of candidate copy number variants on autism spectrum disorder.

Autor: Abedini SS; UNSW BioMedical Machine Learning Lab (BML), The Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia; School of Biotechnology & Biomolecular Sciences, UNSW Sydney, Sydney, NSW 2052, Australia., Akhavantabasi S; Department of Molecular Biology and Genetics, Yeni Yuzyil University, Istanbul, Turkey; Ghiaseddin Jamshid Kashani University, Andisheh University Town, Danesh Blvd, 3441356611, Abyek, Qazvin, Iran., Liang Y; UNSW BioMedical Machine Learning Lab (BML), The Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia., Heng JI; Curtin Health Innovation Research Institute, Curtin University, Bentley 6845, Australia., Alizadehsani R; Institute for Intelligent Systems Research and Innovation (IISRI), Deakin University, Victoria, Australia., Dehzangi I; Center for Computational and Integrative Biology, Rutgers University, Camden, NJ 08102, USA; Department of Computer Science, Rutgers University, Camden, NJ 08102, USA., Bauer DC; Transformational Bioinformatics, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Sydney, Australia; Applied BioSciences, Faculty of Science and Engineering, Macquarie University, Macquarie Park, Australia., Alinejad-Rokny H; UNSW BioMedical Machine Learning Lab (BML), The Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia; Tyree Institute of Health Engineering (IHealthE), UNSW Sydney, Sydney, NSW 2052, Australia. Electronic address: h.alinejad@unsw.edu.au.

Publikováno v: Mutation research. Reviews in mutation research [Mutat Res Rev Mutat Res] 2024 Jul 06; Vol. 794, pp. 108509. Date of Electronic Publication: 2024 Jul 06.

Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.

Autor: Vafaee-Shahi M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.; Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran., Farhadi M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Razmara E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Morovvati S; Department of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Ghasemi S; Ali Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran., Abedini SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Bagher Z; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Alizadeh R; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Falah M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Falah.m@iums.ac.ir.

Publikováno v: Irish journal of medical science [Ir J Med Sci] 2022 Aug; Vol. 191 (4), pp. 1877-1890. Date of Electronic Publication: 2021 Aug 10.

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.

Autor: Jonkhout N; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, Spain., Cruciani S; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, Spain.; University Pompeu Fabra (UPF), Barcelona, Spain., Santos Vieira HG; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, Spain., Tran J; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Liu H; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, Spain., Liu G; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Current Address: School of Medicine, Sun Yat-sen University, Shenzhen, Guangdong, China., Pickford R; Bioanalytical Mass Spectrometry Facility, Mark Wainwright Analytical Centre, University of New South Wales, Sydney, NSW, Australia., Kaczorowski D; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Franco GR; Departamento De Bioquímica E Imunologia, Universidade Federal De Minas Gerais,Belo Horizonte,Minas Gerais, Brazil., Vauti F; Division of Cellular & Molecular Neurobiology, Zoological Institute, Technische Universität Braunschweig, 38106 Braunschweig, Germany., Camacho N; Institute for Research in Biomedicine, Barcelona, Catalonia, Spain., Abedini SS; Department of Genetics, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Department of Genetics, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Ribas de Pouplana L; Institute for Research in Biomedicine, Barcelona, Catalonia, Spain.; Catalan Institution for Research and Advanced Studies, Barcelona, Catalonia, Spain., Christ D; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia., Schonrock N; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Mattick JS; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia., Novoa EM; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, Spain.; University Pompeu Fabra (UPF), Barcelona, Spain.

Publikováno v: RNA biology [RNA Biol] 2021 Nov; Vol. 18 (11), pp. 1905-1919. Date of Electronic Publication: 2021 Feb 15.

Screening PAX9 , MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis.

Autor: Safari S; Tehran, Iran., Ebadifar A; Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Department of Orthodontic, Faculty of Dentistry, Shahid Behehsti University of Medical Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Kamali K; Department of Public Health, Faculty of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran., Abedini SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Publikováno v: Avicenna journal of medical biotechnology [Avicenna J Med Biotechnol] 2020 Oct-Dec; Vol. 12 (4), pp. 236-240.