Nejat Mahdieh

Summary

Affiliation: Tarbiat Modarres University
Country: Iran

Publications

  1. doi request reprint Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency
    Nejat Mahdieh
    Genetics Department, School of Medicine, Tarbiat Modares University, Tehran, Iran
    Int J Audiol 48:363-70. 2009
  2. ncbi request reprint Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR
    Nejat Mahdieh
    Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
    Clin Lab 56:467-71. 2010
  3. doi request reprint Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling
    Nejat Mahdieh
    Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
    Biochem Biophys Res Commun 402:305-7. 2010
  4. doi request reprint Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
    Nejat Mahdieh
    Department of Medical Genetics, Faculty of Medicine, Tarbiat Modares University, Tehran, Iran
    J Hum Genet 55:639-48. 2010
  5. doi request reprint Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant
    Nejat Mahdieh
    Kawsar Human Genetic Research Center, Tehran, Iran
    Genet Test Mol Biomarkers 15:489-93. 2011
  6. doi request reprint Screening of OTOF mutations in Iran: a novel mutation and review
    Nejat Mahdieh
    Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
    Int J Pediatr Otorhinolaryngol 76:1610-5. 2012
  7. pmc Mutation analysis of the CYP21A2 gene in the Iranian population
    Bahareh Rabbani
    Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
    Genet Test Mol Biomarkers 16:82-90. 2012
  8. doi request reprint High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene
    Nejat Mahdieh
    Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran
    Int J Pediatr Otorhinolaryngol 74:1089-91. 2010
  9. ncbi request reprint A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes
    Bahareh Rabbani
    Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
    Clin Lab 58:1063-6. 2012
  10. ncbi request reprint GJB2 mutations: passage through Iran
    Hossein 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

Collaborators

Detail Information

Publications14

  1. doi request reprint Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency
    Nejat 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...
  2. ncbi request reprint Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR
    Nejat 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...
  3. doi request reprint Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling
    Nejat 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...
  4. doi request reprint Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
    Nejat 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...
  5. doi request reprint Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant
    Nejat 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...
  6. doi request reprint Screening of OTOF mutations in Iran: a novel mutation and review
    Nejat Mahdieh
    Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
    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...
  7. pmc Mutation analysis of the CYP21A2 gene in the Iranian population
    Bahareh 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...
  8. doi request reprint High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene
    Nejat 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...
  9. ncbi request reprint A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes
    Bahareh 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...
  10. ncbi request reprint GJB2 mutations: passage through Iran
    Hossein 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...
  11. ncbi request reprint Design of a biological method for rapid detection of presence of PCR inhibitors in aged bone DNA
    Akram 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...
  12. pmc Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene
    Bahareh 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...
  13. doi request reprint A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect
    Elham Davoudi-Dehaghani
    Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St, Tehran, Iran
    Int J Pediatr Otorhinolaryngol 77:821-6. 2013
    ..The aim of this study was to determine the contribution of the TMC1 gene mutations in causing hearing loss in Iran...
  14. doi request reprint In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations
    Bahareh 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...