Mohammadi-Asl J - Search Results

1

A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.

Tabatabaiefar MA, Pourreza MR, Tahmasebi P, Saki N, Hashemzadeh Chaleshtori M, Salehi R, Mohammadi-Asl J. Tabatabaiefar MA, et al. Otolaryngol Head Neck Surg. 2018 Jun;158(6):1084-1092. doi: 10.1177/0194599818759007. Epub 2018 Feb 27. Otolaryngol Head Neck Surg. 2018. PMID: 29484972

2

UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation.

Mohammadi Asl J, Tabatabaiefar MA, Galehdari H, Riahi K, Masbi MH, Zargar Shoshtari Z, Rahim F. Mohammadi Asl J, et al. Biomed Res Int. 2013;2013:342371. doi: 10.1155/2013/342371. Epub 2013 Oct 28. Biomed Res Int. 2013. PMID: 24286076 Free PMC article.

3

Characterization of wild-type and mutated RET proto- oncogene associated with familial medullary thyroid cancer.

Masbi MH, Mohammadiasl J, Galehdari H, Ahmadzadeh A, Tabatabaiefar MA, Golchin N, Haghpanah V, Rahim F. Masbi MH, et al. Asian Pac J Cancer Prev. 2014;15(5):2027-33. doi: 10.7314/apjcp.2014.15.5.2027. Asian Pac J Cancer Prev. 2014. PMID: 24716929 Free article.

4

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.

Talebi F, Ghanbari Mardasi F, Mohammadi Asl J, Bavarsad AH, Tizno S. Talebi F, et al. Int J Pediatr Otorhinolaryngol. 2017 Jun;97:192-196. doi: 10.1016/j.ijporl.2017.04.016. Epub 2017 Apr 12. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28483234 Review.

5

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.

Mohammadi-Asl J, Pourreza MR, Mohammadi A, Eskandari A, Mozafar-Jalali S, Tabatabaiefar MA. Mohammadi-Asl J, et al. J Dermatol Sci. 2017 Oct;88(1):134-138. doi: 10.1016/j.jdermsci.2017.04.017. Epub 2017 May 13. J Dermatol Sci. 2017. PMID: 28545862

6

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

Tabatabaiefar MA, Alipour P, Pourahmadiyan A, Fattahi N, Shariati L, Golchin N, Mohammadi-Asl J. Tabatabaiefar MA, et al. J Neurol Sci. 2017 Aug 15;379:212-216. doi: 10.1016/j.jns.2017.06.012. Epub 2017 Jun 12. J Neurol Sci. 2017. PMID: 28716242

7

A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.

Asgharzade S, Tabatabaiefar MA, Mohammadi-Asl J, Chaleshtori MH. Asgharzade S, et al. Int J Pediatr Otorhinolaryngol. 2018 May;108:8-11. doi: 10.1016/j.ijporl.2018.01.006. Epub 2018 Jan 31. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29605370

8

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

Taghipour-Sheshdeh A, Nemati-Zargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, Mohammadi-Asl J, Hashemzadeh-Chaleshtori M. Taghipour-Sheshdeh A, et al. Genomics. 2019 Jul;111(4):840-848. doi: 10.1016/j.ygeno.2018.05.008. Epub 2018 May 9. Genomics. 2019. PMID: 29752989 Free article.

9

Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome.

Mohammadi-Asl J, Hajjari M, Tahmasebi Birgani M, Riahi K, Nasiri H, Kollaee A. Mohammadi-Asl J, et al. Ann Hum Genet. 2018 Sep;82(5):304-308. doi: 10.1111/ahg.12255. Epub 2018 Jul 24. Ann Hum Genet. 2018. PMID: 30039856

10

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.

Zarepour N, Koohiyan M, Taghipour-Sheshdeh A, Nemati-Zargaran F, Saki N, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M. Zarepour N, et al. Audiol Neurootol. 2019;24(1):25-31. doi: 10.1159/000498843. Epub 2019 Apr 3. Audiol Neurootol. 2019. PMID: 30943474

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