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1. Wolf-Hirschhorn syndrome: A case with normal karyotype, Demonstrated by array CGH (aCGH)
by Saberi, Alihossein and Shariati, Gholamreza and Hamid, Mohammad and Galehdari, Hamid and Abdorasouli, Nehzat
Archives of Iranian Medicine, ISSN 1029-2977, 09/2014, Volume 17, Issue 9, pp. 642 - 644
Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial... 
Wolf-hrschhorn syndrome | 4p16.3 deletion | Array CGH | MEDICINE, GENERAL & INTERNAL | WHS | TRANSLOCATIONS | PHENOTYPE | wolf-Hirschhorn syndrome
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2. Full Text Prenatal diagnosis of a rare de novo 1q22‐q25.1 chromosomal deletion syndrome using oligo array CGH
by Shariati, Gholamreza and Saberi, Alihossein and Hamid, Mohammad and Galehdari, Hamid and Sedaghat, Alireza and Abdorasuli, Nehzat
Clinical Case Reports, ISSN 2050-0904, 08/2018, Volume 6, Issue 8, pp. 1464 - 1469
Key Clinical Message We present prenatal diagnosis of a case with a rare de novo interstitial deletion of 1q21‐q25.1 by oligo array CGH and provide detailed... 
1q22‐q25.1 | cleft lip/palate | oligo array CGH | small hands and feet | 1q22-q25.1 | Prenatal development
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3. Full Text Mutation screening of the krüppel-like factor 1 gene in individuals with increased fetal hemoglobin referred for hemoglobinopathy investigation in south of Iran
by Hamid, Mohammad and Ershadi Oskouei, Sanaz and Shariati, Gholamreza and Babaei, Esmaeil and Galehdari, Hamid and Saberi, Alihossein and Sedaghat, Alireza
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 2018, Volume 40, Issue 3, pp. 192 - 195
Background:Any mutation in the Kruppel-like factor 1 (KLF1) gene may interfere with its proper related function in the erythropoiesis process and lead to... 
thalassemia | molecular hematology | hemoglobin disorders | anemia | BETA-GLOBIN GENE | ONCOLOGY | TRANSCRIPTION | FACTOR KLF1 CAUSES | PEDIATRICS | HEREDITARY PERSISTENCE | EKLF/KLF1 | HEMATOLOGY | Iran | DNA Mutational Analysis | Humans | beta-Thalassemia - genetics | Fetal Hemoglobin | Mutation | Kruppel-Like Transcription Factors - genetics
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4. Full Text Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
by Sharifi, Reza and Morra, Rosa and Denise Appel, C and Tallis, Michael and Chioza, Barry and Jankevicius, Gytis and Simpson, Michael A and Matic, Ivan and Ozkan, Ege and Golia, Barbara and Schellenberg, Matthew J and Weston, Ria and Williams, Jason G and Rossi, Marianna N and Galehdari, Hamid and Krahn, Juno and Wan, Alexander and Trembath, Richard C and Crosby, Andrew H and Ahel, Dragana and Hay, Ron and Ladurner, Andreas G and Timinszky, Gyula and Williams, R Scott and Ahel, Ivan
The EMBO Journal, ISSN 0261-4189, 05/2013, Volume 32, Issue 9, pp. 1225 - 1237
Adenosine diphosphate (ADP)‐ribosylation is a post‐translational protein modification implicated in the regulation of a range of cellular processes. A family... 
macrodomain | neurodegeneration | ADP‐ribose | PARP | DNA damage | ADP-ribose | MECHANISM | RECOGNITION | CHROMATIN | POLY(ADP-RIBOSE) PAR POLYMER | BIOCHEMISTRY & MOLECULAR BIOLOGY | IDENTIFICATION | CELL BIOLOGY | REPAIR | BINDING | INSIGHTS | Amino Acid Sequence | Poly Adenosine Diphosphate Ribose - physiology | Glycoside Hydrolases - physiology | Glycoside Hydrolases - genetics | Humans | Protein Processing, Post-Translational - genetics | Cells, Cultured | Child, Preschool | Models, Molecular | Molecular Sequence Data | Thiolester Hydrolases - physiology | Male | Neurodegenerative Diseases - genetics | Poly Adenosine Diphosphate Ribose - genetics | Sequence Homology, Amino Acid | Pedigree | Base Sequence | HEK293 Cells | Family | Female | Thiolester Hydrolases - genetics | HeLa Cells | Child | Neurodegenerative Diseases - enzymology | Proteins | Neurodegeneration | Deoxyribonucleic acid--DNA | Adenosine triphosphatase
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5. Identification of IVS-I (-1) (G < C) or Hb monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in South of Iran
by Hamid, Mohammad and Shariati, Gholamreza and Saberi, Alihossein and Kaikhaei, Bijan and Galehdari, Hamid and Mohammadi-Anaei, Marziye
Archives of Iranian Medicine, ISSN 1029-2977, 09/2013, Volume 16, Issue 9, pp. 563 - 564
We described the first report of IVS-I (-1), codon 30 (G > C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase... 
Iran | Thalassemia (thal) | Beta-globin gene | MEDICINE, GENERAL & INTERNAL | MUTATIONS | VARIANTS | thalassemia (thal)
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6. A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene
by Hamid, Mohammad and Bokharaei Merci, Hanieh and Galehdari, Hamid and Hossein Saberi, Ali and Kaikhaei, Bijan and Mohammadi-Anaei, Marziye and Ahmadzadeh, Ahmad and Shariati, Gholamreza
Archives of Iranian Medicine, ISSN 1029-2977, 2014, Volume 17, Issue 7, pp. 475 - 476
In this study, a new alpha globin gene mutation on the alpha(2)-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position... 
α-thalassemia | Iran | α-globin gene mutation | MEDICINE, GENERAL & INTERNAL | alpha-globin gene mutation | alpha-thalassemia
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7. Full Text Corrigendum to “First venom gland transcriptomic analysis of Iranian yellow scorpion “Odonthubuthus doriae” with some new findings” [Toxicon 120 (2016) 69–77]
by Soorki, Maryam Naderi and Galehdari, Hamid and Baradaran, Masomeh and Jalali, Amir
Toxicon, ISSN 0041-0101, 03/2018, Volume 143, pp. 118 - 118
The authors regret “ Dept. of Genetics, School of Science, Shahid Chamran University, Ahvaz, Iran”. The authors would like to apologise for any inconvenience... 
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8. Full Text Niemann-pick diseases: The largest Iranian cohort with genetic analysis
by Hashemian, Somayyeh and Eshraghi, Peyman and Dilaver, Nafi and Galehdari, Hamid and Shalbafan, Bita and Vakili, Rahim and Ghaemi, Nosrat and Ahangari, Najmeh and Varaghchi, Jamileh Rezazadeh and Zeighami, Jawaher and Sedaghat, Alireza and Aminzadeh, Majid and Hamid, Mohammad and Saberi, Alihossein and Ashtari, Fereshteh and Karimiani, Ehsan Ghayoor and Shariati, Gholamreza
Iranian Journal of Child Neurology, ISSN 1735-4668, 03/2019, Volume 13, Issue 2, pp. 155 - 162
Objectives: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular... 
Niemann-pick disease (NPD) | Autosomal recessive | Iran | Genetic analysis | Niemann-Pick disease | Spleen | Liver diseases | Mutation | Bioinformatics | Cholesterol
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9. Full Text Wound healing activity of extracts and formulations of Aloe vera, henna, Adiantum capillus-veneris, and myrrh on mouse dermal fibroblast cells
by Negahdari, Samira and Galehdari, Hamid and Kesmati, Mahnaz and Rezaie, Anahita and Shariati, Gholamreza
International Journal of Preventive Medicine, ISSN 2008-7802, 03/2017, Volume 8, Issue 1, pp. 18 - 18
Among the most important factors in wound healing pathways are transforming growth factor beta1 and vascular endothelial growth factor. Fibroblasts are the... 
Transforming growth factor‑β1 | Herbal | Wound healing | Fibroblast | Vascular endothelial growth factor | Formulations | Genes | Neutrophils | Cytotoxicity | Inflammation | Gene expression | Cell adhesion & migration | Studies | Polymerase chain reaction | Leaves | Angiogenesis | Collagen | Rodents | Fibroblasts | Diabetes | Growth factors | Aloe | transforming growth factor-β1 | wound healing | herbal | vascular endothelial growth factor
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10. Identification of a novel HADHB gene mutation in an Iranian patient with mitochondrial trifunctional protein deficiency
by Shahrokhi, Mahdiyeh and Shafiei, Mohammad and Galehdari, Hamid and Shariati, Gholamreza
Archives of Iranian Medicine, ISSN 1029-2977, 01/2017, Volume 20, Issue 1, pp. 22 - 27
Fatty acid oxidation | HADHB | HADHA | Mitochondrial trifunctional protein (MTP) | Deficiency | Novel mutation
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11. Full Text MgO and ZnO nanoparticles anti-nociceptive effect modulated by glutamate level and NMDA receptor expression in the hippocampus of stressed and non-stressed rats
by Torabi, Mozhgan and Kesmati, Mahnaz and Galehdari, Hamid and Varzi, Hossein Najafzadeh and Pourreza, Nahid
Physiology & Behavior, ISSN 0031-9384, 02/2020, Volume 214, p. 112727
The anti-nociceptive mechanisms of MgO and ZnO nanoparticles have not been thoroughly investigated; in this study, we evaluated the effects of anti-nociceptive... 
Nanoparticles | MgO/ZnO | Pain | Gene | Glutamate | Hippocampus
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12. New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report
by Galehdari, Hamid and Tangestani, Raheleh and Ghasemian, Sepideh
01/2014
Objective: Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of... 
Acid sphingomyelinase-1 | Niemann Pick disease | Mutation | SMPD1 Gene
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13. Full Text First venom gland transcriptomic analysis of Iranian yellow scorpion “Odonthubuthus doriae” with some new findings
by NaderiSoorki, Maryam and Galehdari, Hamid and Baradaran, Masomeh and Jalali, Amir
Toxicon, ISSN 0041-0101, 09/2016, Volume 120, pp. 69 - 77
Scorpion venom contains mixture of biologic molecules including selective toxins with medical capability. ( ) belonged to family of scorpions and gained more... 
Transcriptome analysis | Iranian scorpion | Odonthubuthus doriae | Venom gland | cDNA library
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14. Full Text Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
by Shariati, Gholamreza and Hamid, Mohammad and Saberi, Alihossein and Andashti, Behnaz and Galehdari, Hamid
Clinical Case Reports, ISSN 2050-0904, 02/2015, Volume 3, Issue 2, pp. 114 - 117
Key Clinical Message Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was... 
MLC1 gene | Iranian | leukodystrophy | novel mutation | Nuclear magnetic resonance--NMR | Mutation | Cysts | Patients | Cell adhesion & migration | Case Reports
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15. Full Text A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient
by Hamid, Mohammad and Zargan Nezhad, Ebtesam and Galehdari, Hamid and Saberi, Alihossein and Shariati, Gholamreza and Sedaghat, Alireza and Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran and Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran and Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran and Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
Iranian biomedical journal, ISSN 1028-852X, 10/2018, Volume 23, Issue 6, pp. 429 - 431
Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous... 
Mutation | Anemia | Hemoglobin Alesha | Case Report
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16. Full Text Investigate of AQP gene expression in the liver of mice after ischemia–reperfusion
by Karimi, Solmaz and Khatami, Saeid Reza and Azarpira, Negar and Galehdari, Hamid and Pakbaz, Sara
Molecular Biology Reports, ISSN 0301-4851, 12/2018, Volume 45, Issue 6, pp. 1769 - 1774
Ischemia-reperfusion (IR) injury usually occurs during liver transplantation. Aquaporins (AQPs) are transmembrane channels that facilitate water permeability... 
AQP | Reperfusion | Hepatocyte | Ischemia | Liver | CELLS | PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | INJURY | AQUAPORIN-1 | BRAIN | INDUCED UP-REGULATION | Reactive Oxygen Species | Gene Expression Regulation - genetics | Liver - metabolism | Aquaporins - metabolism | Male | Alanine Transaminase - blood | Aquaporins - genetics | MAP Kinase Signaling System | Aquaporin 1 - genetics | Liver - injuries | Animals | Aspartate Aminotransferases - blood | Mice | Mice, Inbred BALB C | p38 Mitogen-Activated Protein Kinases - metabolism | Reperfusion Injury - genetics | Reperfusion Injury - metabolism | Ischemia - pathology | Medical research | Aquaporins | Genes | Transplantation | Permeability | Gene expression | Investigations | Analysis | Stem cells | Medicine, Experimental | Transplantation of organs, tissues, etc | Genetic research | Alanine | Aquaporin 8 | Syngeneic grafts | Membrane permeability | Homeostasis | Cell membranes | Inflammatory diseases | Allografts | Rodents | Alanine transaminase | Aspartate aminotransferase | Aquaporin 1 | Liver transplantation
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17. Full Text Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease
by Hafizi, Atousa and Khatami, Saeid Reza and Galehdari, Hamid and Shariati, Gholamreza and Saberi, Ali Hossein and Hamid, Mohammad
Iranian Biomedical Journal, ISSN 1028-852X, 2014, Volume 18, Issue 3, pp. 143 - 150
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is... 
Polycystic kidney diseases (PKD) | Iran | PKD1 gene | Autosomal dominant polycystic kidney disease (ADPKD) | Protein Structure, Tertiary | Humans | Models, Molecular | Molecular Sequence Data | Exons - genetics | Male | Mutation, Missense - genetics | TRPP Cation Channels - genetics | TRPP Cation Channels - chemistry | Polycystic Kidney, Autosomal Dominant - genetics | DNA Mutational Analysis | Electrophoresis, Agar Gel | Pedigree | Base Sequence | Adult | Family | Female | Heterozygote | Child | Original
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18. Full Text The effect of 3-o-acetyl -beta boswellic acid on interleukin-6 gene expression in the human glioblastoma cell line
by Hafizi, Atousa and Khatami, Saeid Reza and Galehdari, Hamid
Journal of Isfahan Medical School, ISSN 1027-7595, 04/2019, Volume 37, Issue 516, pp. 125 - 131
Interleukin 6 | Glioblastoma | Boswellic acid
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19. Full Text The Effect of 3-O-Acetyl-Beta-Boswellic Acid on Interleukin-6 Gene Expression in the Human Glioblastoma Cell Line
by Atousa Hafizi and Saeid Reza Khatami and Hamid Galehdari
مجله دانشکده پزشکی اصفهان, ISSN 1027-7595, 04/2019, Volume 37, Issue 516, pp. 125 - 131
Background: Frankincense is a gum resin of Boswellia trees genus that has been favored in the Iranian traditional medicine for its anti-inflammatory and... 
Glioblastoma | Interleukin-6 | Boswellic acid
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20. Full Text Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy
by Jones, Edward G and Mazaheri, Neda and Maroofian, Reza and Zamani, Mina and Seifi, Tahereh and Sedaghat, Alireza and Shariati, Gholamreza and Jamshidi, Yalda and Allen, Hugh D and Wehrens, Xander H. T and Galehdari, Hamid and Landstrom, Andrew P
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 9038 - 10
Junctophilin-2 (JPH2) is a part of the junctional membrane complex that facilitates calcium-handling in the cardiomyocyte. Previously, missense variants in... 
HEART | STATEMENT | GENETIC-VARIATION | EXOME | RECOMMENDATIONS | MULTIDISCIPLINARY SCIENCES | MUTATION | SEQUENCE VARIANTS | CLASSIFICATION | SOCIETY | FAMILY | Neonates | Genetic variability | Calcium | Cardiomyopathy | Insertion | Stop codon | Minority & ethnic groups | Coronary artery disease | Literature reviews | Ethnicity | Dilated cardiomyopathy | Genetic analysis | Children | Heart diseases
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