18/07/2018
آمار بازدید
 total : 97663
 online : 4
Recent publications
 

Normal 0 false false false EN-US X-NONE AR-SA

Exonic mutations and exon skipping: Lessons learned from DFNA5.

Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ.

Hum Mutat. 2017 Dec 19. doi: 10.1002/humu.23384. [Epub ahead of print]

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ.

Clin Genet. 2017 Nov 7. doi: 10.1111/cge.13170. [Epub ahead of print]

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A.

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

Effect of KH2PO4 on gene expression, morphological and biochemical characteristics of stevia rebaudiana Bertoni under in vitro conditions.

Kahrizi D, Ghari SM, Ghaheri M, Fallah F, Ghorbani T, Beheshti Ale Agha A, Kazemi E, Ansarypour Z.

Cell Mol Biol (Noisy-le-grand). 2017 Aug 15;63(7):107-111. doi: 10.14715/cmb/2017.63.7.18.

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.

Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F.

J Neurogenet. 2017 Sep;31(3):161-169. doi: 10.1080/01677063.2017.1346093. Epub 2017 Jul 7.

 

 

 

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