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Sahand Tehrani Fateh

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Recent Articles
1.
Ghasemi M, Esmaeilizadeh Z, Tehrani Fateh S, Sadeghi H, Bagheri S, Hashemi-Gorji F, et al.
Mol Genet Genomic Med . 2025 Jan; 13(1):e70057. PMID: 39835750
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor...
2.
Ghasemi M, Tehrani Fateh S, Ben-Mahmoud A, Gupta V, Stuhn L, Lesca G, et al.
Am J Med Genet A . 2024 Dec; :e63963. PMID: 39707601
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise...
3.
Moeinafshar A, Tehrani Fateh S, Hashemi-Gorji F, Karimzadeh P, Gholibeglou E, Rostami M, et al.
BMC Neurol . 2024 Nov; 24(1):455. PMID: 39567938
Background: Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability,...
4.
Roudbar M, Vahedi S, Jin J, Jahangiri M, Lanjanian H, Habibi D, et al.
Hum Genomics . 2024 Sep; 18(1):98. PMID: 39256828
This study aims to assess the effect of familial structures on the still-missing heritability estimate and prediction accuracy of Type 2 Diabetes (T2D) using pedigree estimated risk values (ERV) and...
5.
Asgarian S, Lanjanian H, Rahimipour Anaraki S, Hadaegh F, Moazzam-Jazi M, Najd-Hassan-Bonab L, et al.
Sci Rep . 2024 Aug; 14(1):19860. PMID: 39191897
Maturity-onset diabetes of the young (MODY) is an uncommon monogenic type of diabetes mellitus. Detecting genetic variants for MODY is a necessity for precise diagnosis and treatment. The majority of...
6.
Ghasemi M, Tehrani Fateh S, Hashemi-Gorji F, Sheikhi Nooshabadi M, Alijanpour S, Mardi A, et al.
Epilepsy Behav Rep . 2024 Aug; 27:100702. PMID: 39188779
The gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of...
7.
Elahi Vahed I, Tehrani Fateh S, Kamali M, Hashemi-Gorji F, Esmaeilzadeh Z, Sadeghi H, et al.
Mol Genet Metab Rep . 2024 Aug; 40:101125. PMID: 39157536
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the gene, which...
8.
Mohammadi M, Tehrani Fateh S, Ganji M, Mohammadi P, Bahrami T, Ashrafi M, et al.
Acta Neurol Belg . 2024 Aug; 124(6):1959-1972. PMID: 39147996
Developmental and epileptic encephalopathy type 25 with amelogenesis imperfecta (DEE25) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous disease-causing variants in the SLC13A5. These variants can...
9.
Moghimi P, Hashemi-Gorji F, Jamshidi S, Tehrani Fateh S, Salehpour S, Sadeghi H, et al.
Biochem Genet . 2024 Apr; PMID: 38619706
Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of...
10.
Habibi D, Teymoori F, Ebrahimi N, Tehrani Fateh S, Najd-Hassan-Bonab L, Saeidian A, et al.
Nutr Metab Cardiovasc Dis . 2024 Mar; 34(5):1305-1313. PMID: 38508993
Background And Aims: The putative association between serum 25-hydroxyvitamin D concentration [25(OH)D] and the risk of cardioembolic stroke (CES) has been examined in observational studies, which indicate controversial findings. We...