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Atie Kashef

Explore the profile of Atie Kashef including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 34
Followers 0
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Recent Articles
1.
Taghdiri M, Kashef A, Abbassi G, Moshtagh A, Sadatian N, Fardaei M, et al.
Clin Case Rep . 2019 Jun; 7(6):1149-1153. PMID: 31183084
Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably...
2.
Taghdiri M, Kashef A, Fardaei M, Miryounesi M
Clin Case Rep . 2018 Jan; 6(1):32-36. PMID: 29375833
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in are known to be responsible for this syndrome. Here, we report...
3.
Kahrizi K, Bazazzadegan N, Jamali L, Nikzat N, Kashef A, Najmabadi H
J Genet . 2015 Jan; 93(3):837-41. PMID: 25572244
No abstract available.
4.
Kashef A, Nikzat N, Bazzazadegan N, Fattahi Z, Sabbagh-Kermani F, Taghdiri M, et al.
Int J Pediatr Otorhinolaryngol . 2015 Jan; 79(2):136-8. PMID: 25555641
Objective: Hereditary hearing loss is the most common neurosensory disorder in humans. Half of the cases have genetic etiology with extraordinary genetic heterogeneity. Mutations in one gene, GJB2, are the...
5.
Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, et al.
Int J Pediatr Otorhinolaryngol . 2012 Jun; 76(8):1164-74. PMID: 22695344
Objective: Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the...