Saeed Talebi
Overview
Explore the profile of Saeed Talebi including associated specialties, affiliations and a list of published articles.
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Articles
56
Citations
361
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Recent Articles
1.
Azimi F, Bagherzadeh K, Khakpoor G, Talebi S, Sedaghat A, Mirshahi R, et al.
Case Rep Ophthalmol
. 2025 Feb;
16(1):74-85.
PMID: 39981538
Introduction: The aim of this study was to determine the potential genetic cause of retinal capillary hemangioblastoma (RCH) with symptoms of Von Hippel-Lindau (VHL) disease. Case Presentations: Three Iranian families...
2.
Reshadmanesh A, Dehdahsi S, Ahangari F, Kahrizi K, Kariminejad A, Mahdavi S, et al.
Arch Iran Med
. 2025 Feb;
27(12):700-706.
PMID: 39891458
Here, we report a case with concomitant variants: a novel homozygous gene variant and a novel heterozygous duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hypertrophy,...
3.
Tavasoli A, Kachuei M, Talebi S, Eghdami S
Ann Med Surg (Lond)
. 2024 Jun;
86(6):3753-3756.
PMID: 38846886
Introduction And Importance: Cytochrome C oxidase (COX) deficiency is an uncommon inherited metabolic disorder. It is identified by a lack of the COX, also known as Complex IV. This enzyme...
4.
Ghasemi S, Mojbafan M, Talebi S, Hooman N, Hoseini R
Mol Genet Genomic Med
. 2024 Apr;
12(4):e2421.
PMID: 38622833
Introduction: Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine...
5.
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, et al.
DNA Repair (Amst)
. 2024 Feb;
136:103633.
PMID: 38422792
Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17...
6.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, et al.
Iran Biomed J
. 2023 Oct;
27(5):307-19.
PMID: 37873728
Background: Inborne errors of metabolism are a common cause of neonatal death. This study evaluated the acute early-onset metabolic derangement and death in two unrelated neonates. Methods: Whole-exome sequencing (WES),...
7.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Zafarghandi Motlagh F, Kordafshari A, et al.
Hereditas
. 2023 May;
160(1):25.
PMID: 37248539
Background: Methylmalonic acidemia (MMA) is a rare metabolic disorder resulting from functional defects in methylmalonyl-CoA mutase. Mutations in the MMAB gene are responsible for the cblB type of vitamin B12-responsive...
8.
Maryami F, Davoudi-Dehaghani E, Khalesi N, Rismani E, Rahimi H, Talebi S, et al.
Mol Genet Genomics
. 2023 May;
298(4):905-917.
PMID: 37131081
Whole-exome sequencing (WES) is an excellent method for the diagnosis of diseases of uncertain or heterogeneous genetic origin. However, it has limitations for detecting structural variations such as InDels, which...
9.
Amirkashani D, Asadollahi M, Hosseini R, Talebi S, Golchehre Z, Keramatipour M
Iran J Child Neurol
. 2023 Apr;
17(2):127-133.
PMID: 37091464
Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with...
10.
Kazemi-Sefat G, Keramatipour M, Vaezi M, Razavi S, Kavousi K, Talebi A, et al.
Sci Rep
. 2023 Jan;
13(1):736.
PMID: 36639723
No abstract available.