Autor: "Nojehdeh ST" - OpacWWW

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Tytuł:: Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation.
Autorzy:: Nojehdeh ST; Dr. Davarnia Genetic Counseling and Diagnosis Center Imam Reza Hospital Ardabil Iran.
Mojbafan M; Department of Medical Genetics, School of Medicine Iran University of Medical Sciences (IUMS) Tehran Iran.; Department of Medical Genetics Ali-Asghar Children's Hospital Tehran Iran.
Hooman N; Clinical research Development Center Iran University of Medical Sciences Tehran Iran.; Department of Pediatric Nephrology Ali-Asghar Children's Hospital Tehran Iran.
Hoseini R; Department of Pediatric Nephrology Ali-Asghar Children's Hospital Tehran Iran.
Otukesh H; Department of Pediatric Nephrology Ali-Asghar Children's Hospital Tehran Iran.; Pokaż więcej
Źródło:: Clinical case reports [Clin Case Rep] 2022 Dec 09; Vol. 10 (12), pp. e6698. Date of Electronic Publication: 2022 Dec 09 (Print Publication: 2022).
Typ publikacji:: Case Reports

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Tytuł:: Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
Autorzy:: Mojbafan M; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Shahid Hemmat Highway, Tehran, Iran.; Department of medical genetics, Ali-Asghar Children's Hospital, Zafar St., Shahid Modarres Highway, Tehran, Iran.
Nojehdeh ST; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran.
Rahiminejad F; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran.
Nilipour Y; Pathology Department, Pediatric Pathology Research Center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Tonekaboni SH; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti Medical University, Tehran, Iran.
Zeinali S; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran. .; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, No. 69, Pasteur Ave, Tehran, Iran. .; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2020 Apr 15; Vol. 21 (1), pp. 77. Date of Electronic Publication: 2020 Apr 15.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Calcium-Binding Proteins/*genetics
Cation Transport Proteins/*genetics
Microsatellite Repeats/*genetics
Mitochondrial Membrane Transport Proteins/*genetics
Muscular Diseases/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Child, Preschool ; Exome/genetics ; Exons/genetics ; Extrapyramidal Tracts/metabolism ; Extrapyramidal Tracts/pathology ; Female ; Frameshift Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Iran/epidemiology ; Muscular Diseases/pathology ; Muscular Dystrophies, Limb-Girdle/pathology ; Pedigree ; Sequence Deletion/genetics ; Exome Sequencing

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