Search Results - "Agha Gholizadeh, Mehdi"
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A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report
Published in Iranian journal of public health (01-11-2019)“…Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder, leading to the defect of neurogenic brain development. Individuals with MCPH reveal…”
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Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Published in Neurogenetics (01-07-2024)“…Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnormalities, often arising from mutations…”
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Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
Published in Neurogenetics (01-10-2024)“…Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The disorder is clinically diagnosed based on…”
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Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene
Published in BMC medical genomics (04-04-2022)“…Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations…”
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Association of Interleukin-28B Polymorphisms (rs12979860 C/T, rs12980275 A/G, rs8099917 T/G) and Risk of Hepatocellular Carcinoma in an Iranian Population
Published in Middle East journal of digestive diseases (2022)“…: Hepatocellular carcinoma (HCC) is the fifth most common cancer in the world. The association of interleukin 28B (IL-28B) polymorphisms and HCC has been…”
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Identification of hub genes associated with RNAi-induced silencing of XIAP through targeted proteomics approach in MCF7 cells
Published in Cell & bioscience (11-06-2020)“…The X-linked inhibitor of apoptosis protein (XIAP) is the most potent caspase inhibitor of the IAP family in apoptosis pathway. This study aims to identify the…”
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The X-ray Repair Cross-Complementing Group 1 Arg399Gln Genetic Polymorphism and Risk of Hepatocellular Carcinoma in an Iranian Population
Published in Middle East journal of digestive diseases (01-01-2018)“…BACKGROUND The association between X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln gene polymorphism and hepatocellular carcinoma (HCC) has been…”
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A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report
Published in Jorjani biomedicine journal (01-03-2019)“…Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad…”
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The X-ray Repair Cross-Complementing Group 1 Arg399Gln Genetic Polymorphism and Risk of Hepatocellular Carcinoma in an Iranian Population
Published in Middle East journal of digestive diseases (01-01-2018)“…Hepatocellular carcinoma (HCC) is the most common histological type of liver cancer.1 In Middle Eastern countries, such as Iran, the prevalence of HCC is lower…”
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