Items where Author is "Tabatabaiefar, M. A."
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(2025) Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clinical genetics. pp. 366-368. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)
(2025) Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation. Journal of Medical Genetics. p. 12. ISSN 0022-2593
(2025) Correction: Decellularized skin pretreatment by monophosphoryl lipid A and lactobacillus casei supernatant accelerate skin recellularization. Molecular Biology Reports. p. 262. ISSN 1573-4978 (Electronic) 0301-4851 (Linking)
(2025) DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. Journal of Clinical Immunology. p. 14. ISSN 0271-9142
(2025) Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome. Egyptian Journal of Medical Human Genetics. p. 8. ISSN 1110-8630
(2025) Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy. The Journal of investigative dermatology. ISSN 1523-1747 (Electronic) 0022-202X (Linking)
(2025) Sero-molecular prevalence of toxoplasmosis in hemodialysis and peritoneal dialysis patients in Markazi Province, Iran. Tropical Medicine and Health. p. 5. ISSN 1348-8945
(2025) A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review. Archives of Dermatological Research. p. 9. ISSN 0340-3696
(2024) Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. Bmc Medical Genomics. p. 10.
(2024) Decellularized skin pretreatment by monophosphoryl lipid A and lactobacillus casei supernatant accelerate skin recellularization. Molecular Biology Reports. p. 14. ISSN 0301-4851
(2024) Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series. Laboratory medicine. pp. 506-516. ISSN 1943-7730 (Electronic) 0007-5027 (Linking)
(2024) Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family. Egyptian Journal of Medical Human Genetics. p. 8. ISSN 1110-8630
(2024) Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability. Laboratory medicine. pp. 204-208. ISSN 1943-7730 (Electronic) 0007-5027 (Linking)
(2024) Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genetics in Medicine. p. 33. ISSN 1098-3600
(2024) A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Molecular Genetics & Genomic Medicine. p. 10. ISSN 2324-9269
(2024) Qualitative and Quantitative Optimization of FOXE1 Gene Polymerase Chain Reaction Product as a GC-Rich Gene. Journal of Isfahan Medical School. pp. 1004-1010. ISSN 10277595 (ISSN)
(2024) RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review. Molecular Genetics & Genomic Medicine. p. 9. ISSN 2324-9269
(2024) A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems. Molecular Genetics & Genomic Medicine. e2305. ISSN 2324-9269 (Electronic) 2324-9269 (Linking)
(2023) Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study. Journal of Biomolecular Structure & Dynamics. pp. 9850-9864. ISSN 1538-0254 (Electronic) 0739-1102 (Linking)
(2023) Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series. Laboratory Medicine. pp. 506-516. ISSN 0007-5027
(2023) Griscelli syndrome type 1: a novel pathogenic variant, and review of literature. Molecular Genetics and Genomics. pp. 485-493. ISSN 1617-4615
(2023) A Homozygous Nonsense Variant in <i>UVSSA</i> Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran. Advanced Biomedical Research. p. 6. ISSN 2277-9175
(2023) The Introduction of Basic Fibroblast Growth Factor Promotes Quadriceps Muscle Regeneration after Damage in Mice. Journal of Sciences, Islamic Republic of Iran. pp. 111-117. ISSN 10161104 (ISSN)
(2023) Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review. Middle East Journal of Cancer. pp. 300-308. ISSN 2008-6709
(2023) New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development. Molecular Genetics and Genomics. pp. 693-708. ISSN 1617-4615
(2023) A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency. Laboratory Medicine. pp. 439-446. ISSN 1943-7730 (Electronic) 0007-5027 (Linking)
(2023) Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. Plos One. p. 17. ISSN 1932-6203
(2023) Two distinct deleterious causative variants in a family with multiple cancer-affected patients. Advanced Biomedical Research. p. 6. ISSN 2277-9175
(2023) Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature. Bmc Medical Genomics. p. 20.
(2023) A deleterious frameshift insertion mutation in the <i>ZNF142</i> gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269
(2023) A novel <i>METTL5</i> variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review. Journal of Genetics. p. 7. ISSN 0022-1333
(2023) A novel heterozygous truncating variant in the <i>AGO1</i> gene in an Iranian family with schizophrenia as an unreported symptom. Annals of Human Genetics. pp. 295-301. ISSN 0003-4800
(2022) Clinical Evaluation Followed by Molecular Diagnosis in a Multiplex Pedigree of Angelman Syndrome: A Case Report. Journal of Sciences, Islamic Republic of Iran. pp. 305-309. ISSN 10161104 (ISSN)
(2022) The Importance of SNPs at miRNA Binding Sites as Biomarkers of Gastric and Colorectal Cancers: A Systematic Review. JOURNAL OF PERSONALIZED MEDICINE. ISSN 2075-4426 J9 - J PERS MED
(2022) Next-generation sequencing reveals a novel pathogenic variant in the ATM gene. Int J Neurosci. pp. 558-562. ISSN 0020-7454
(2022) A Simplified Protocol for Microsatellite Instability Evaluation in Iranian Patients at Risk for Lynch Syndrome. Lab Med. pp. 235-241. ISSN 0007-5027
(2022) Using Classification and K-means Methods to Predict Breast Cancer Recurrence in Gene Expression Data. J Med Signals Sens. pp. 122-126. ISSN 2228-7477 (Print) 2228-7477
(2022) A Versatile Biomimic Nanotemplating Fluidic Assay for Multiplex Quantitative Monitoring of Viral Respiratory Infections and Immune Responses in Saliva and Blood. Advanced Science. p. 15.
(2022) Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscul Disord. ISSN 0960-8966
(2022) Whole exome sequencing identified a novel<i> LAMA2</i> frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscular Disorders. pp. 776-784. ISSN 0960-8966
(2022) Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees. Lab Med. pp. 111-122. ISSN 0007-5027
(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the <i>ATRX</i> gene. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269
(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. Mol Genet Genomic Med. e2034. ISSN 2324-9269
(2021) A Computational Framework to Infer Prostate Cancer-Associated Long Noncoding RNAs and Analyses for Identifying a Competing Endogenous RNA Network. GENETIC TESTING AND MOLECULAR BIOMARKERS. pp. 582-589. ISSN 1945-0265 1945-0257 J9 - GENET TEST MOL BIOMA
(2021) Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature. J Hum Genet. ISSN 1434-5161
(2021) JPX and LINC00641 ncRNAs expression in prostate tissue: a case-control study. RESEARCH IN PHARMACEUTICAL SCIENCES. pp. 493-504. ISSN 1735-5362 1735-9414 J9 - RES PHARM SCI
(2021) Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran. Intractable & Rare Diseases Research. pp. 23-30. ISSN 2186-3644
(2021) Next-generation sequencing reveals a novel pathogenic variant in the ATM gene. Int J Neurosci. pp. 1-5. ISSN 0020-7454
(2021) Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization. SCIENTIFIC REPORTS. ISSN 2045-2322 J9 - SCI REP-UK
(2021) Selection of Optimal Bioinformatic Tools and Proper Reference for Reducing the Alignment Error in Targeted Sequencing Data. Journal of Medical Signals & Sensors. pp. 37-44. ISSN 2228-7477
(2021) WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family. Frontiers in Oncology. ISSN 2234-943X
(2019) Epigenetics and Common Non Communicable Disease. Adv Exp Med Biol. pp. 7-20. ISSN 0065-2598 (Print) 0065-2598
(2019) A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. Audiology and Neuro-Otology. pp. 258-263. ISSN 1420-3030
(2018) Engineered zinc-finger nuclease to generate site-directed modification in the KLF1 gene for fetal hemoglobin induction. J Cell Biochem. ISSN 0730-2312
(2018) Investigating of four main carbapenem-resistance mechanisms in high-level carbapenem resistant Pseudomonas aeruginosa isolated from burn patients. Journal of the Chinese Medical Association : JCMA. pp. 127-132. ISSN 1728-7731 (Electronic) 1726-4901 (Linking)
(2017) CDH1 gene mutations and its association with diffuse gastric cancer. International Journal of Advanced Biotechnology and Research. pp. 739-743. ISSN 0976-2612
(2016) Characterization of Oxacillinase and Metallo-beta-Lactamas Genes and Molecular Typing of Clinical Isolates of Acinetobacter baumannii in Ahvaz, South-West of Iran. Jundishapur Journal of Microbiology. ISSN 2008-3645
(2016) Characterization of oxacillinase and metallo-β-lactamas genes and molecular typing of clinical isolates of Acinetobacter baumannii in Ahvaz, South-West of Iran. Jundishapur Journal of Microbiology. ISSN 20083645 (ISSN)
(2016) Comparison of different methods for erythroid differentiation in the K562 cell line. Biotechnology Letters. pp. 1243-1250. ISSN 0141-5492
(2016) Genetic disruption of the KLF1 gene to overexpress the -globin gene using the CRISPR/Cas9 system. Journal of Gene Medicine. pp. 294-301. ISSN 1099-498X
(2016) Genetic linkage analysis of DFNB40 and DFNB48 loci in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from western provinces of Iran. Journal of Isfahan Medical School. ISSN 10277595 (ISSN)
(2016) Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian Journal of Basic Medical Sciences. pp. 772-778. ISSN 2008-3866
(2016) Sequence-identification of Candida species isolated from candidemia. Advanced biomedical research. p. 150. ISSN 2277-9175 (Print) 2277-9175 (Linking)
(2016) Staphylococcus aureus Isolates Carrying Panton-Valentine Leucocidin Genes: Their Frequency, Antimicrobial Patterns, and Association With Infectious Disease in Shahrekord City, Southwest Iran. Jundishapur Journal of Microbiology. ISSN 2008-3645
(2016) Using intron splicing trick for preferential gene expression in transduced cells: an approach for suicide gene therapy. Cancer Gene Therapy. pp. 7-12. ISSN 0929-1903
(2015) Association of interleuldn-1 gene cluster polymorphisms and haplotypes with multiple sclerosis in an Iranian population. Journal of Neuroimmunology. pp. 114-119. ISSN 0165-5728
(2015) Correlation Between Mucosal IL-6 mRNA Expression Level and Virulence Factors of Helicobacter pylori in Iranian Adult Patients With Chronic Gastritis. Jundishapur Journal of Microbiology. ISSN 2008-3645
(2015) Effect of Oxidized Low Density Lipoprotein on the Expression of Runx2 and SPARC Genes in Vascular Smooth Muscle Cells. Iranian biomedical journal. pp. 160-4. ISSN 2008-823X (Electronic) 1028-852X (Linking)
(2015) Genetic linkage analysis of the DFNB63 locus in families with autosomal recessive nonsyndromic hearing loss from Hamadan and Kohgiluyeh and Boyer-Ahmad Provinces, Iran. Journal of Isfahan Medical School. pp. 1308-1317. ISSN 10277595 (ISSN)
(2015) A Lentiviral Vector Expressing Desired Gene Only in Transduced Cells: An Approach for Suicide Gene Therapy. Molecular Biotechnology. pp. 793-800. ISSN 1073-6085
(2015) Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations. Gene. pp. 302-307. ISSN 0378-1119
(2015) A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. International Journal of Pediatric Otorhinolaryngology. pp. 1736-1740. ISSN 0165-5876
(2015) The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. International Journal of Audiology. pp. 124-130. ISSN 1499-2027