Mortaza Bonyadi

Overview

Explore the profile of Mortaza Bonyadi including associated specialties, affiliations and a list of published articles.

Snapshot

Articles 58

Citations 558

Followers 0

Related Specialties

Ophthalmology

Genetics

General Medicine

Top 10 Co-Authors

Mohammad Hossein Jabbarpoor Bonyadi

Masoud Soheilian

Mehdi Yaseri

Neda Jabbarpour

Mohsen Esmaeili

Tahereh Mohammadian

Mandana Rafeey

Alireza Javadzadeh

Nikou Fotouhi

Reza Abdolmohammadi

Published In

Ophthalmic Genet

Genet Test Mol Biomarkers

Curr Eye Res

Int Ophthalmol

Int J Pediatr Otorhinolaryngol

Affiliations

Soon will be listed here.

Recent Articles

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation

Poorshiri B, Jabbarpour N, Barzegar M, Bonyadi M, Ebadi Z

Neurogenetics . 2024 Nov; 26(1):11. PMID: 39602023

We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant...

Identification and bioinformatics analysis of a novel variant in the gene in a patient with intellectual developmental disorder

Asghari Sarfaraz A, Jabbarpour N, Bonyadi M, Khalaj-Kondory M

J Neurogenet . 2024 Jun; 38(1):19-25. PMID: 38884635

HERC2-associated neurodevelopmental-disorders(NDD) encompass a cluster of medical conditions that arise from genetic mutations occurring within the gene. These disorders can manifest a spectrum of symptoms that impact the brain and...

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

Azizi H, Bonyadi M, Rafat A

Hum Genome Var . 2024 Mar; 11(1):12. PMID: 38514630

No abstract available.

Identification of Two Novel Pathogenic Variants of the Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome Sequencing

Amandi A, Jabbarpour N, Shiva S, Bonyadi M

Curr Genomics . 2024 Feb; 24(6):345-353. PMID: 38327652

Background: The gene encodes a multifunctional kinase involved in important cellular functions, such as checkpoint signaling and apoptosis, in response to DNA damage. Bi-allelic pathogenic variants in this gene cause...

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

Roudbari F, Dallal Amandi A, Bonyadi M, Sadeghi L, Jabbarpour N

Mol Syndromol . 2023 Dec; 14(6):516-522. PMID: 38058752

Background: Waardenburg syndrome (WS) is an inherited heterogeneous auditory pigmentary syndrome, divided into at least four types and characterized by iris heterochromia, white forelock, prominent nasal root, dystopia canthorum, middle...

A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity

Jabbarpour N, Bonyadi M, Sadeghi L

Mol Biol Rep . 2023 Aug; 50(10):8771-8775. PMID: 37573280

Background: Severe combined immune deficiencies (SCIDs) are genetically heterogeneous disorders that lead to the absence or malfunction of adaptive immune cells, including T- and B-cells. Pathogenic variants in the RAG2...

Identification of a novel mutation in the gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion

Jabbarpour N, Poorshiri B, Saei H, Barzegar M, Bonyadi M

J Genet . 2023 Feb; 102. PMID: 36823680

Congenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristics of...

Identification of novel cis-mutations in the gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract

Jabbarpour N, Saei H, Jabbarpoor Bonyadi M, Bonyadi M

Ophthalmic Genet . 2022 Jun; 43(5):609-614. PMID: 35726576

Background: Cataract is mainly due to the presence of high molecular weight protein, which disrupts the normal function of the lens. Pathogenic variants in Gap Junction protein alpha-8 () have...

Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications

Hassanpour Aydinlou Z, Vaezi H, Bonyadi M, Rafat A, Jabbarpoor Bonyadi M, Soheilian M

Ophthalmic Genet . 2022 Mar; 43(4):446-449. PMID: 35236246

Introduction: Rhegmatogenous retinal detachment (RRD) is the most common type of retinal detachment. Purpose of this study is to evaluate the possible association of ARMS2 (age-related macular susceptibility 2) A69S...

10.

Lack of Association between Monocyte Chemoattractant Protein-1 (MCP-1) Gene Promoter Polymorphism and Behcet's Disease with and without Ocular Involvement in Iranian Population: A Case-Control Study

Ghaffari Laleh M, Bonyadi M, Shahriyari E, Jabbarpoor Bonyadi M, Soheilian M, Yaseri M

Curr Eye Res . 2021 Aug; 47(2):312-316. PMID: 34459335

Purpose: This case-control study aimed to evaluate the possible association of MCP-1 - 2518A/G genetic polymorphism with Behcet's disease (BD) in the Iranian patients. Materials And Methods: This study was...