Research Topics
Genomes and GenesSpecies | Nejat MahdiehSummaryAffiliation: Tarbiat Modarres University Country: Iran Publications
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Detail Information
Publications
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequencyNejat Mahdieh
Genetics Department, School of Medicine, Tarbiat Modares University, Tehran, Iran
Int J Audiol 48:363-70. 2009..This study highlights the importance of establishing prevalence, based on the local population for screening and diagnostic programs of live births...
Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCRNejat Mahdieh
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Clin Lab 56:467-71. 2010..This may suggest that deletions involving GJB6 may be responsible for some NSHL...- Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populationsNejat Mahdieh
Department of Medical Genetics, Faculty of Medicine, Tarbiat Modares University, Tehran, Iran
J Hum Genet 55:639-48. 2010..Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs... - Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variantNejat Mahdieh
Kawsar Human Genetic Research Center, Tehran, Iran
Genet Test Mol Biomarkers 15:489-93. 2011..The role of consanguineous marriages is also highlighted in occurrence of GJB2-related hearing loss. We suggest that other genes may be involved in the population... 
Mutation analysis of the CYP21A2 gene in the Iranian populationBahareh Rabbani
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
Genet Test Mol Biomarkers 16:82-90. 2012..Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia. Forty four affected families were investigated to identify the mutation spectrum of the CYP21A2 gene...- High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 geneNejat Mahdieh
Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Int J Pediatr Otorhinolaryngol 74:1089-91. 2010..Phenotypic variability between members of different families with the same type of mutation can be expected which may be due to the role of different modifying factors, unrecognized gap junction isoforms, or polymorphism effects... - A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changesBahareh Rabbani
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
Clin Lab 58:1063-6. 2012..The SW presentation of the patient may be due to the CYP21A1P microconversion. The study of regulatory changes of the CYP21A2 and gender differentiation pathways would be possible using such patients... - Screening of OTOF mutations in Iran: A novel mutation and reviewNejat Mahdieh
Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran Kawsar s Human Genetics Research Center, Tehran, Iran Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran Department of Medical Genetics, Faculty of Medicine, Tarbiat Modares University, Tehran, Iran Electronic address
Int J Pediatr Otorhinolaryngol 76:1610-5. 2012..Mutations in OTOF have been reported to cause nonsyndromic hearing loss in different populations. The purpose of this study is screening of OTOF mutations in Iranian population... - GJB2 mutations: passage through IranHossein Najmabadi
Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran
Am J Med Genet A 133:132-7. 2005..Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe... - Design of a biological method for rapid detection of presence of PCR inhibitors in aged bone DNAAkram Ghasemi
Human Genetics Research Center, Baqyatallah University of Medical Sciences, Tehran, Iran
Clin Lab 58:681-6. 2012..but problems may occur as a result of DNA degradation and external DNA contamination. We investigated effects of bacterial DNA on identifying the presence or absence of PCR inhibitors in aged bone DNA... - Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 GeneBahareh Rabbani
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran Pediatrics Center of Excellence, Children s Medical Center, Tehran, Iran
Iran J Pediatr 21:139-50. 2011..Also, the previous studies on CAH in Iran are gathered and a diagnostic algorithm for the genetic causes is proposed... - Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counselingNejat Mahdieh
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Biochem Biophys Res Commun 402:305-7. 2010..35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree... - In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutationsBahareh Rabbani
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
Gene 503:215-21. 2012..Alanine is a conserved amino acid in the membrane binding domain of the enzyme and proline substitution was predicted to destabilize the protein. This report may highlight the importance of the screening programs of the disorder in Iran...