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Page 1
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH. Kahrizi K, et al. Among authors: beheshtian m. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19. Clin Genet. 2019. PMID: 30315573
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Sloan-Heggen CM, et al. Among authors: beheshtian m. J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7. J Med Genet. 2015. PMID: 26445815 Free PMC article.
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
Mohseni M, Razzaghmanesh M, Parsi Mehr E, Zare H, Beheshtian M, Najmabadi H. Mohseni M, et al. Among authors: beheshtian m. Iran Biomed J. 2016 Sep;20(4):201-6. doi: 10.7508/ibj.2016.04.003. Epub 2016 Mar 27. Iran Biomed J. 2016. PMID: 27017198 Free PMC article.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium. Amos JS, et al. Among authors: beheshtian m. Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. Epub 2016 May 24. Clin Genet. 2017. PMID: 27102954
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: beheshtian m. Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21. Clin Genet. 2017. PMID: 27234031
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H. Beheshtian M, et al. Arch Iran Med. 2016 Oct 1;19(10):720-728. Arch Iran Med. 2016. PMID: 27743438 Free PMC article. Review.
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S. Edizadeh M, et al. Among authors: beheshtian m. Arch Iran Med. 2017 Sep;20(9):617-620. Arch Iran Med. 2017. PMID: 29048924
40 results