Isfahan University of Medical Sciences

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Faculty Members have conducted research related to the The Global Prevalence of Autism Spectrum Disorder: A Comprehensive Systematic Review and Meta-Analysis
Majid Kheirollahi
Majid Kheirollahi

Associate Professor of Medical Genetics

Department of Genetics and Molecular Biology, School of Medicine

Pediatric Inherited Diseases Research Center

Research Institute for Primordial Prevention of Non-communicable Disease

Al-Zahra Hospital, Imam Hossein Children's Hospital

Isfahan University of Medical Sciences

All Documents
1. A Novel Mutation in Hld-5 With a Comprehensive Literature Review, Basic and Clinical Neuroscience (2025)
2. Comprehensive Review and Outline of Genotypes and Phenotypes of Arboleda-Tham Syndrome Spectrum: Insights From Novel Variants, Molecular Biology Reports (2025)
3. A Novel Biallelic Variant in Cdh23 Gene in a Family With Atypical Ush1d Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation, Audiology and Neurotology (2023)
4. A Novel Biallelic Variant in Cdh23 Gene in a Family With Atypical Ush1d Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation, Audiology and Neurotology (2023)
5. A Rapid and Simple Method for Simultaneous Determination of Three Breast Cancer Related Micrornas Based on Magnetic Nanoparticles Modified With S9.6 Antibody, Analytical Biochemistry (2023)
6. A Rapid and Simple Method for Simultaneous Determination of Three Breast Cancer Related Micrornas Based on Magnetic Nanoparticles Modified With S9.6 Antibody, Analytical Biochemistry (2023)
7. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
8. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
9. The Impact of Maternal Predisposing Factors on Level of Maternal Serum Pregnancy-Associated Plasma Protein a and Free Subunit Human Chorionic Gonadotropin and Nuchal Translucency, Advanced Biomedical Research (2023)
10. A Chronic Autochthonous Fifth Clade Case of Candida Auris Otomycosis in Iran, Mycopathologia (2022)
11. A Novel Signal Amplification Tag to Develop Rapid and Sensitive Aptamer-Based Biosensors, Bioelectrochemistry (2022)
12. A Novel Signal Amplification Tag to Develop Rapid and Sensitive Aptamer-Based Biosensors, Bioelectrochemistry (2022)
13. Anterior Cruciate Ligament Injury and Its Postoperative Outcomes Are Not Associated With Polymorphism in Col1a1 Rs1107946 (G/T): A Case–Control Study in the Middle East Elite Athletes, Journal of Orthopaedic Surgery and Research (2022)
14. Anterior Cruciate Ligament Injury and Its Postoperative Outcomes Are Not Associated With Polymorphism in Col1a1 Rs1107946 (G/T): A Case–Control Study in the Middle East Elite Athletes, Journal of Orthopaedic Surgery and Research (2022)
15. Methylation and Polymorphism in Cdh1 Gene Promoter Among Patients With Diffuse Gastric Cancer, International Journal of Preventive Medicine (2022)
16. Molecular Investigation of the Incidence of Candida Auris Infections at Selected Hospitals in Iran, Mycoses (2022)
17. The Relationship Between Screening Markers in the First Trimester of Pregnancy and Chromosome Aberrations, International Journal of Preventive Medicine (2022)
18. An Interdependence Between Gapvd1 Gene Polymorphism, Expression Level and Response to Interferon Beta in Patients With Multiple Sclerosis, Journal of Neuroimmunology (2021)
19. An Interdependence Between Gapvd1 Gene Polymorphism, Expression Level and Response to Interferon Beta in Patients With Multiple Sclerosis, Journal of Neuroimmunology (2021)
20. Expression and Clinical Significance of Il7r, Nfatc2, and Rnf213 in Familial and Sporadic Multiple Sclerosis, Scientific Reports (2021)
21. Gene Expression Profiles of Yap1, Taz, Crb3, and Vdr in Familial and Sporadic Multiple Sclerosis Among an Iranian Population, Scientific Reports (2021)
22. Germline Likely Pathogenic Variants in Ataxia-Telangiectasia-Mutated Gene in an Iranian Family With Hereditary Diffuse Gastric Cancer Without Cdh1 Mutation, Journal of Cancer Research and Therapeutics (2021)
23. Homozygous Tfg Gene Variants Expanding the Mutational and Clinical Spectrum of Hereditary Spastic Paraplegia 57 and a Review of Literature, Journal of Human Genetics (2021)
24. Identification of a Missense Variant in the Eif2b3 Gene Causing Vanishing White Matter Disease With Antenatal-Onset But Mild Symptoms and Long-Term Survival, Journal of Molecular Neuroscience (2021)
25. Novel Somatic Variants in Ctnna1 Gene in Iranian Patients With Diffuse Gastric Cancer, Gastroenterology and Hepatology from Bed to Bench (2021)
26. Using Whole Exome Sequencing in Determining the Genetic Cause of Parkinson Disease in an Iranian Family, Neurology Asia (2021)
27. Gene Delivery by Pei-Nanocomplex Into Breast and Colorectal Tumor Cell Lines, the Impacts of N/P Ratio, Size and Type of the Cell; [Pei-Nanocomplex Tarafindan Meme Ve Kolorektal Tumor Hucre Hatlarinda Gen Dagitimi, N / P Oraninin, Hucrenin Boyutu Ve Turunun Etkileri], Fabad Journal of Pharmaceutical Sciences (2020)
28. New Variants in the Cdh1 Gene in Iranian Families With Hereditary Diffuse Gastric Cancer, Middle East Journal of Cancer (2020)
29. The Effect of Parental Consanguinity on Clinical Course and Outcome of Children With Focal Segmental Glomerulosclerosis, a Report From Isfahan, Iran, Iranian Journal of Kidney Diseases (2020)
30. A Novel Pathogenic Variant in Naglu (N-Acetyl-Alpha-Glucosaminidase) Gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis, Iranian Journal of Child Neurology (2019)
31. Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients, Iranian Journal of Child Neurology (2019)
32. Correlations Between the Expression of Htert and Α and Β Splice Variants in Human Brain Tumors, Advances in Clinical and Experimental Medicine (2019)
33. Mda-7/Interleukin 24 (Il-24) in Tumor Gene Therapy: Application of Tumor Penetrating/Homing Peptides for Improvement of the Effects, Expert Opinion on Biological Therapy (2019)
34. Mn-Doped Zns Quantum Dots-Chlorin E6 Shows Potential As a Treatment for Chondrosarcoma: An in Vitro Study, IET Nanobiotechnology (2019)
35. Novel Variants and Copy Number Variation in Cdh1 Gene in Iranian Patients With Sporadic Diffuse Gastric Cancer, Journal of Gastrointestinal Cancer (2019)
36. Targeting Mcf-7 Cell Line by Listeriolysin O Pore Forming Toxin Fusion With Ahnp Targeted Peptide, Advanced Biomedical Research (2019)
37. The Mthfr C677t Polymorphism Influences the Efficacy of Folic Acid Supplementation on the Nerve Conduction Studies in Patients With Diabetic Polyneuropathy; a Randomized, Double Blind, Placebo-Controlled Study, Journal of Research in Medical Sciences (2019)
38. Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in Aaas Gene, Iranian Journal of Pediatrics (2018)
39. In Silico Analysis of Slc3a1 and Slc7a9 Mutations in Iranian Patients With Cystinuria, Molecular Biology Reports (2018)
40. Meta-Analysis of the Association Between Gaba Receptor Polymorphisms and Autism Spectrum Disorder (Asd), Journal of Molecular Neuroscience (2018)
41. Trpc6 Mutational Analysis in Iranian Children With Focal Segmental Glomerulosclerosis, Iranian Journal of Kidney Diseases (2018)
42. Trpc6 Mutational Analysis in Iranian Children With Focal Segmental Glomerulosclerosis, Iranian Journal of Kidney Diseases (2018)
43. Variants in Human Prostacyclin Receptor Gene in Patients With Migraine Headache, Iranian Journal of Psychiatry (2018)
44. Variants in Human Prostacyclin Receptor Gene in Patients With Migraine Headache, Iranian Journal of Psychiatry (2018)
45. A Novel Mutation in Slc7a9 Gene in Cystinuria, Iranian Journal of Kidney Diseases (2017)
46. A Report of a Novel Mutation in Human Prostacyclin Receptor Gene in Patients Affected With Migraine, Iranian Journal of Psychiatry (2017)
47. Comparative Study on Mutations in Cdh1 Gene in Iranian Patients With Hereditary Diffuse Gastric Cancer (Hdgc) and Sporadic Diffuse Gastric Cancer (Sdgc), Journal of Isfahan Medical School (2017)
48. Identification of B and T Cell Epitope Based Peptide Vaccine From Igf-1 Receptor in Breast Cancer, Journal of Molecular Graphics and Modelling (2017)
49. Medip Real-Time Qpcr Has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21, International Journal of Molecular and Cellular Medicine (2017)
50. Mir-145 and Mir20a-5P Potentially Mediate Pleiotropic Effects of Interferon-Beta Through Mitogen-Activated Protein Kinase Signaling Pathway in Multiple Sclerosis Patients, Journal of Molecular Neuroscience (2017)
51. Prevalence of High-Risk Human Papillomavirus Infection in Women With Ovarian Endometriosis, Journal of Obstetrics and Gynaecology Research (2017)
52. Prevalence of High-Risk Human Papillomavirus Infection in Women With Ovarian Endometriosis, Journal of Obstetrics and Gynaecology Research (2017)
53. Report of Slc3a1/Rbat Gene Mutations in Iranian Cystinuria Patients: A Direct Sequencing Study, Journal of Research in Medical Sciences (2017)
54. A Novel Mutation in Slc3a1 Gene in Patients With Cystinuria, Iranian Journal of Kidney Diseases (2016)
55. Brain-Derived Neurotrophic Factor Gene Val66met Polymorphism and Risk of Schizophrenia: A Meta-Analysis of Case–Control Studies, Cellular and Molecular Neurobiology (2016)
56. Down Syndrome: Current Status, Challenges and Future Perspectives, International Journal of Molecular and Cellular Medicine (2016)
57. Existence of Mutations in the Homeodomain-Encoding Region of Nkx2.5 Gene in Iranian Patients With Tetralogy of Fallot, Journal of Research in Medical Sciences (2016)
58. Next-Generation Sequencing and Its Applications, Journal of Isfahan Medical School (2016)
59. The Effect of Beta Interferon on the Expression of Mir-145 in Patients With Multiple Sclerosis, Journal of Isfahan Medical School (2016)
60. Comparison of Terra Expression in Human Brain Tumors; [«Confronto Dell’Espressione Dell’Rna Non Codificante Denominato Terra Nei Tumori Cerebrali Umani»], European Journal of Oncology (2015)
61. Cystinuria in a Patient With a Novel Mutation in Slc7a9 Gene, Iranian Journal of Kidney Diseases (2015)
62. Expression of Mir-148A in Human Meningioma Tumors, Journal of Isfahan Medical School (2015)
63. Expression of Terra in Different Grades of Astrocytoma, Journal of Isfahan Medical School (2015)
64. Knocking Down the Drd2 by Shrna Expressing Plasmids in the Nucleus Accumbens Prevented the Disrupting Effect of Apomorphine on Prepulse Inhibition in Rat, Journal of Sciences# Islamic Republic of Iran (2015)
65. Mutation Analysis of Slc3a1 and Slc7a9 Genes in Patients With Cystinuria, Urolithiasis (2015)
66. Plant Expression of Human Proinsulin Using the Plasmid Viral University of Tehran (Pvut) Vector, Journal of Isfahan Medical School (2015)
67. Retinal Cell Regeneration by Stem Cells, Journal of Isfahan Medical School (2015)
68. Telomeric Repeat-Containing Rna (Terra) and Human Diseases, Journal of Isfahan Medical School (2015)
69. The Role of Transcription Factors in Regulating the Development and Differentiation of Neural Retina Cells, Journal of Isfahan Medical School (2015)
70. An Overview of Peptide Nucleic Acids: Structure, Properties, and Applications, Journal of Isfahan Medical School (2014)
71. Comparison of Inserted Mouse Ip-10 Gene Copy Number in Helper-Dependent and Independent System Based on Piggybac Transposition in Human Embryonic Kidney Cells, Journal of Isfahan Medical School (2014)
72. Detection of Mutation in Exons 3 and 8 of Slc3a1 and Exons 4 and 10 of Slc7a9 Genes in Patients With Cystinuria in Iran, Journal of Isfahan Medical School (2014)
73. Evaluation of Measuring Radiation-Induced Apoptosis in Human T-Lymphocytes by Flow Cytometry As a Biological Dosimetry System, Journal of Isfahan Medical School (2014)
74. Mirna, Biogenesis and Mechanisms of Regulations, Journal of Isfahan Medical School (2014)
75. Telomerase and Therapy of Brain Tumors, Journal of Isfahan Medical School (2014)
76. Establishing a Tumor Bank and Challenges, Journal of Isfahan Medical School (2013)
77. Genetics Aspects of Male Infertility, Journal of Isfahan Medical School (2013)
78. Telomerase Activity in Human Brain Tumors: Astrocytoma and Meningioma, Cellular and Molecular Neurobiology (2013)
79. Telomere, Regulation and Tumorigenesis, Telomere Territory and Cancer (2013)
80. The Role of Telomere in Cell; Telomere Dysfunction and Tumorigenesis, Journal of Isfahan Medical School (2013)
81. Telomere Structure and Its Role in Dna Damage and Genetic Disorders, Journal of Isfahan Medical School (2012)