Rett syndrome molecular diagnosis and implications in genetic counseling

Autor: H Sheikhha, MT Akbari, M Ghofrani, Mehrdad Noruzinia

Publikováno v: Indian Journal of Human Genetics

Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a08d81f0a9693e697189ede54aecc0
http://europepmc.org/articles/PMC3168138

The safety and efficacy of NeVa mechanical thrombectomy device in acute ischemic stroke: A systematic review and meta-analysis.

Autor: Habibi MA; Department of Neurosurgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: Mohammad.habibi1392@yahoo.com., Mirjnani MS; Student Research Committee, Qom University of Medical Sciences, Qom, Iran. Electronic address: sinamirjani1379@gmail.com., Kargar-Soleimanabad S; Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran. Electronic address: Saeed1376.mu@gmail.com., Akbari Javar MT; Student Research Committee, Rafsanjan University of Medical Sciences, Rafsanjan, Iran. Electronic address: Akbari.taha79@gmail.com., Diyanati M; Student Research Committee, Rafsanjan University of Medical Sciences, Rafsanjan, Iran. Electronic address: Dianatimaryam76@gmail.com., Ahmadvand MH; Faculty of Medicine, Tehran University of Medical Science, Tehran, Iran. Electronic address: m.ahmadvand1380@gmail.com., Berglar IK; Neuroendovascular Program, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA. Electronic address: inka_k_berglar@outlook.com., Dmytriw AA; Neuroendovascular Program, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA. Electronic address: adam.dmytriw@gmail.com.

Publikováno v: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2024 Dec; Vol. 130, pp. 110892. Date of Electronic Publication: 2024 Oct 28.

The Expression Levels of Circulating miR-129 and miR-203a in Association with Breast Cancer and Related Metastasis.

Autor: Ghalkhani E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Akbari MT; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Izadi P; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Mahmoodzadeh H; Iran National Tumor Bank, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran., Kamali F; Department of Surgery, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.

Publikováno v: Iranian journal of public health [Iran J Public Health] 2022 Dec; Vol. 51 (12), pp. 2808-2816.

HLA alleles and haplotype frequencies in Iranian population.

Autor: Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hussen BM; Department of Pharmacognosy, College of Pharmacy, Hawler Medical University, Erbil, Kurdistan Region, Iraq.; Center of Research and Strategic Studies, Lebanese French University, Erbil, Kurdistan Region, Iraq.; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pashmforoush S; Department of Biological Sciences, Kharazmi University, Karaj, Iran., Akbari MT; Tehran Medical Genetics Laboratory, Tehran, Iran., Arsang-Jang S; Department of Biostatistics and Epidemiology, Cancer Gene Therapy Research Center, Faculty of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran., Nazer N; Department of Electrical Engineering, Sharif University of Technology, Tehran, Iran., Hamidieh AA; Pediatric Cell Therapy Research Center, Tehran University of Medical Sciences, Tehran, Iran., Hajifathali A; Hematopoietic Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia., Sayad A; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Dental Research Center, Research Institute for Dental Sciences, Dental School, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Dehaghi MO; Cell Therapy and Hematopoietic Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Hematology, Oncology, and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Publikováno v: Human antibodies [Hum Antibodies] 2022; Vol. 30 (2), pp. 79-96.

Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.

Autor: Moazzeni H; School of Biology, College of Science,University of Tehran, Tehran, Iran.; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Javadi MA; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran., Asgari D; School of Biology, College of Science,University of Tehran, Tehran, Iran., Khani M; School of Biology, College of Science,University of Tehran, Tehran, Iran., Emami M; School of Biology, College of Science,University of Tehran, Tehran, Iran., Moghadam A; School of Biology, College of Science,University of Tehran, Tehran, Iran., Panahi-Bazaz MR; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hosseini Tehrani M; Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran., Karimian F; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran., Hosseini B; Central Eye Bank of Iran, Tehran, Iran., Nekuie Moghadam T; School of Biology, College of Science,University of Tehran, Tehran, Iran., Hassanpour H; School of Biology, College of Science,University of Tehran, Tehran, Iran., Akbari MT; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Elahi E; School of Biology, College of Science,University of Tehran, Tehran, Iran elaheelahi@ut.ac.ir.

Publikováno v: The British journal of ophthalmology [Br J Ophthalmol] 2020 Nov; Vol. 104 (11), pp. 1621-1628. Date of Electronic Publication: 2019 Aug 16.