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Nejat Mahdieh
Nejat Mahdieh
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Bestätigte E-Mail-Adresse bei rhc.ac.ir
Titel
Zitiert von
Zitiert von
Jahr
The promise of whole-exome sequencing in medical genetics
B Rabbani, M Tekin, N Mahdieh
Journal of human genetics 59 (1), 5-15, 2014
6832014
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
B Rabbani, N Mahdieh, K Hosomichi, H Nakaoka, I Inoue
Journal of human genetics 57 (10), 621-632, 2012
2792012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ...
PloS one 7 (11), e50628, 2012
1712012
An overview of mutation detection methods in genetic disorders
N Mahdieh, B Rabbani
Iranian journal of pediatrics 23 (4), 375, 2013
1672013
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ...
Genetics in Medicine 18 (4), 364-371, 2016
1542016
Next generation sequencing: implications in personalized medicine and pharmacogenomics
B Rabbani, H Nakaoka, S Akhondzadeh, M Tekin, N Mahdieh
Molecular biosystems 12 (6), 1818-1830, 2016
1222016
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
N Mahdieh, B Rabbani, S Wiley, MT Akbari, S Zeinali
Journal of human genetics 55 (10), 639-648, 2010
1202010
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency
N Mahdieh, B Rabbani
International journal of audiology 48 (6), 363-370, 2009
1122009
GJB2 mutations: Passage through Iran
H Najmabadi, C Nishimura, K Kahrizi, Y Riazalhosseini, M Malekpour, ...
American Journal of Medical Genetics Part A 133 (2), 132-137, 2005
1122005
Beta thalassemia in 31,734 cases with HBB gene mutations: pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East
N Mahdieh, B Rabbani
Blood reviews 30 (6), 493-508, 2016
492016
Next generation sequencing applications for cardiovascular disease
S Kalayinia, H Goodarzynejad, M Maleki, N Mahdieh
Annals of Medicine 50 (2), 91-109, 2018
462018
The frequency of GJB2 mutations and the Δ (GJB6‐D13S1830) deletion as a cause of autosomal recessive non‐syndromic deafness in the Kurdish population
N Mahdieh, C Nishimura, K Ali‐Madadi, Y Riazalhosseini, H Yazdan, ...
Clinical genetics 65 (6), 506-508, 2004
462004
Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss
G Bademci, FB Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, ...
Scientific reports 6 (1), 31622, 2016
452016
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia
ALI RAMEZANI, K Kahrizi, AM RAZAGHI, N Mahdieh, P Koppens
Iranian Biomedical Journal 12 (1), 49-53, 2008
452008
Screening of OTOF mutations in Iran: a novel mutation and review
N Mahdieh, A Shirkavand, B Rabbani, M Tekin, B Akbari, MT Akbari, ...
International journal of pediatric otorhinolaryngology 76 (11), 1610-1615, 2012
422012
Mutation Analysis of the CYP21A2 Gene in the Iranian Population
B Rabbani, N Mahdieh, MTH Ashtiani, B Larijani, MT Akbari, M New, ...
Genetic Testing and Molecular Biomarkers 16 (2), 82-90, 2012
362012
Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant
N Mahdieh, B Rabbani, A Shirkavand, H Bagherian, ZS Movahed, ...
Genetic testing and molecular biomarkers 15 (7-8), 489-493, 2011
352011
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations
B Rabbani, N Mahdieh, MTH Ashtiani, A Setoodeh, A Rabbani
Gene 503 (2), 215-221, 2012
312012
Molecular diagnosis of congenital adrenal hyperplasia in Iran: focusing on CYP21A2 gene
B Rabbani, N Mahdieh, MTH Ashtiani, MT Akbari, A Rabbani
Iranian journal of pediatrics 21 (2), 139, 2011
312011
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
E Davoudi-Dehaghani, S Zeinali, N Mahdieh, A Shirkavand, H Bagherian, ...
International Journal of Pediatric Otorhinolaryngology 77 (5), 821-826, 2013
282013
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