Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation.

Autor: Ataei Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Nouri Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Tavakoli F; Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Pourreza MR; Core research facilities, Isfahan University of Medical Sciences, Isfahan, Iran., Narrei S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Publikováno v: PloS one [PLoS One] 2023 Feb 27; Vol. 18 (2), pp. e0282304. Date of Electronic Publication: 2023 Feb 27 (Print Publication: 2023).

Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.

Autor: Pourreza MR; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746-73461, Iran., Sobhani M; Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran., Rahimi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746-73461, Iran., Aramideh M; Department of Medicinal Chemistry, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran., Kajbafzadeh AM; Pediatric Urology Research Center, Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Noori-Daloii MR; Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran. nooridaloii@sina.tums.ac.ir.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. nooridaloii@sina.tums.ac.ir., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746-73461, Iran. tabatabaiefar@med.mui.ac.ir.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. tabatabaiefar@med.mui.ac.ir.

Publikováno v: Acta diabetologica [Acta Diabetol] 2020 Jan; Vol. 57 (1), pp. 81-87. Date of Electronic Publication: 2019 Jul 15.

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.

Autor: Shadmehri AA; Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.; Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran., Fattahi N; Cilinical Biochemistry Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran., Pourreza MR; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Koohiyan M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran., Zarifi S; Social Welfare Organization of South Khorasan Province, Birjand, Iran., Darbouy M; Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran., Sharifi R; Biomedical Sciences Division, Human Genetics Research Centre, St George's University of London, London, UK., Tavakkoly Bazzaz J; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Publikováno v: Journal of cellular biochemistry [J Cell Biochem] 2019 Mar; Vol. 120 (3), pp. 3367-3372. Date of Electronic Publication: 2018 Sep 11.

A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.

Autor: Tabatabaiefar MA; 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; 2 Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Pourreza MR; 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Tahmasebi P; 3 Department of Biology, Faculty of Science, Ilam University, Ilam, Iran., Saki N; 4 Department of Otolaryngology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hashemzadeh Chaleshtori M; 5 Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran., Salehi R; 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Mohammadi-Asl J; 6 Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Publikováno v: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2018 Jun; Vol. 158 (6), pp. 1084-1092. Date of Electronic Publication: 2018 Feb 27.

Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients.

Autor: Soltani M; Department of Oral and Maxillofacial Pathology, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Mohsenifar Z; Department of General Pathology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pourreza MR; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Moridnia A; Department of Immunology, Dezful University of Medical Sciences, Dezful, Iran., Shariati L; Isfahan Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran., Razavi SM; Department of Oral and Maxillofacial Pathology, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran.; Dental Implant Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Publikováno v: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology [J Oral Pathol Med] 2018 Jan; Vol. 47 (1), pp. 86-90. Date of Electronic Publication: 2017 Nov 07.