Items where Author is "Tabatabaiefar, Mohammad Amin"

(2020) Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. Bmc Medical Genetics.

(2020) Genetic polymorphisms of Y-chromosome short tandem repeats (Y-STRs) in a male population from Golestan province, Iran. Molecular Biology Research Communications. pp. 11-16. ISSN 2322-181X

(2020) Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family. Acta Diabetol. pp. 81-87. ISSN 1432-5233 (Electronic) 0940-5429 (Linking)

(2020) Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene. Advanced Biomedical Research. ISSN 2277-9175

(2020) New Variants in the CDH1 Gene in Iranian Families with Hereditary Diffuse Gastric Cancer. Middle East Journal of Cancer. pp. 493-501. ISSN 2008-6709

(2020) A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. Audiology and Neuro-Otology. pp. 258-262. ISSN 1420-3030

(2020) Upregulation ofMTOR,RPS6KB1, andEIF4EBP1in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls. Metabolic Brain Disease. pp. 1309-1316. ISSN 0885-7490

(2020) Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss. Molecular Biology Reports. pp. 5355-5364. ISSN 0301-4851

(2020) A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Bmc Medical Genetics.

(2020) A pathogenic variant in the transforming growth factor beta I ( TGFBI ) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. Iranian Journal of Basic Medical Sciences. pp. 1020-1027. ISSN 2008-3866

(2019) Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome. Endocrine. pp. 185-191. ISSN 1355-008X

(2019) Engineered zinc-finger nuclease to generate site-directed modification in the KLF1 gene for fetal hemoglobin induction. JOURNAL OF CELLULAR BIOCHEMISTRY. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)

(2019) Epigenetics and Common Non Communicable Disease. In: Primordial Prevention of Non Communicable Disease. Advances in Experimental Medicine and Biology, 1121 . Springer International Publishing Ag, Cham, pp. 7-20. ISBN 978-3-030-10616-4; 978-3-030-10615-7

(2019) Evidence for expression of promoterless GFP cassette: Is GFP an ideal reporter gene in biotechnology science? Research in Pharmaceutical Sciences. pp. 351-358. ISSN 1735-5362

(2019) The First Report of a Patient with Trisomy 4p and Monosomy 10q. Archives of Iranian Medicine. pp. 414-417. ISSN 1029-2977

(2019) Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran. Adv Biomed Res. p. 55. ISSN 2277-9175 (Print) 2277-9175 (Linking)

(2019) Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. Audiology and Neuro-Otology. pp. 25-31. ISSN 1420-3030

(2019) Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation. JOURNAL OF CELLULAR BIOCHEMISTRY. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)

(2019) Mutation Analysis of GJB2 and GJB6 Genes and Screening of Nine Common DFNB Loci in Iranian Pedigrees with Autosomal Recessive Nonsyndromic Hearing Loss. Indian Journal of Otology. pp. 97-102. ISSN 0971-7749

(2019) Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran. Journal of Audiology and Otology. pp. 20-26. ISSN 2384-1621

(2019) Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred. Int J Pediatr Otorhinolaryngol. pp. 99-105. ISSN 1872-8464 (Electronic) 0165-5876 (Linking)

(2019) Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. Journal of Gastrointestinal Cancer. pp. 420-427. ISSN 1941-6628

(2019) A Patient with Trisomy 4p and Monosomy 10q. Arch Iran Med. pp. 414-417. ISSN 1735-3947 (Electronic) 1029-2977 (Linking)

(2019) Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. Iranian Journal of Public Health. pp. 1704-1713. ISSN 2251-6085

(2019) A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Genomics. pp. 840-848. ISSN 0888-7543

(2019) A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family. Int J Audiol. pp. 1-7. ISSN 1708-8186 (Electronic) 1499-2027 (Linking)

(2018) Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper. Adv Biomed Res. p. 141. ISSN 2277-9175 (Print) 2277-9175 (Linking)

(2018) A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients. International Journal of Molecular and Cellular Medicine. pp. 23-17. ISSN 2251-9637

(2018) Frequency of gjb2 mutations in families with autosomal recessive non-syndromic hearing loss in Khuzestan province. Genetika. pp. 837-846. ISSN 05340012 (ISSN)

(2018) GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants. International Journal of Pediatric Otorhinolaryngology. pp. 121-126. ISSN 0165-5876

(2018) Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology. pp. 86-90. ISSN 1600-0714 (Electronic) 0904-2512 (Linking)

(2018) Inducing indel mutation in the SOX6 gene by zinc finger nuclease for gamma reactivation: An approach towards gene therapy of beta thalassemia. Journal of Cellular Biochemistry. pp. 2512-2519. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)

(2018) A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss. Otolaryngology-Head and Neck Surgery. pp. 1084-1092. ISSN 0194-5998

(2018) Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. J Gastrointest Cancer. ISSN 1941-6636 (Electronic)

(2018) A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing. International Journal of Pediatric Otorhinolaryngology. pp. 8-11. ISSN 0165-5876

(2018) A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Genomics. ISSN 1089-8646 (Electronic) 0888-7543 (Linking)

(2018) A novel variant of SLC26A4 and first report of the c.716T > A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. American Journal of Otolaryngology. pp. 719-725. ISSN 0196-0709

(2017) Cancers of the endocrine system. In: Cancer Genetics and Psychotherapy. Springer International Publishing, pp. 499-530. ISBN 9783319645506 (ISBN); 9783319645483 (ISBN)

(2017) Gastrointestinal cancers. In: Cancer Genetics and Psychotherapy. Springer International Publishing, pp. 589-625. ISBN 9783319645506 (ISBN); 9783319645483 (ISBN)

(2017) A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Molecular Syndromology. pp. 195-200. ISSN 1661-8769

(2017) A PCR-Based Molecular Detection of Strongyloides stercoralis in Human Stool Samples from Tabriz City, Iran. Scientia Pharmaceutica. ISSN 0036-8709

(2017) SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. International Journal of Pediatric Otorhinolaryngology. pp. 122-126. ISSN 0165-5876

(2017) Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran. Iranian Journal of Public Health. pp. 76-82. ISSN 2251-6085

(2017) A novel TECTA mutation causes ARNSHL. International Journal of Pediatric Otorhinolaryngology. pp. 88-93. ISSN 0165-5876

(2017) A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. Journal of the Neurological Sciences. pp. 212-216. ISSN 0022-510X

(2017) A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. Journal of Dermatological Science. pp. 134-138. ISSN 0923-1811

(2017) The silencing effect of miR-30a on ITGA4 gene expression in vitro: an approach for gene therapy. Research in Pharmaceutical Sciences. pp. 456-464. ISSN 1735-5362