Tavasoli AR - Search Results

1

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Sepahvand A, Razmara E, Bitarafan F, Galehdari M, Tavasoli AR, Almadani N, Garshasbi M. Sepahvand A, et al. Among authors: tavasoli ar. Mol Genet Genomic Med. 2020 Oct;8(10):e1413. doi: 10.1002/mgg3.1413. Epub 2020 Jul 22. Mol Genet Genomic Med. 2020. PMID: 32697043 Free PMC article.

2

Dosimetry of gamma chamber blood irradiator using PAGAT gel dosimeter and Monte Carlo simulations.

Mohammadyari P, Zehtabian M, Sina S, Tavasoli AR, Faghihi R. Mohammadyari P, et al. Among authors: tavasoli ar. J Appl Clin Med Phys. 2014 Jan 4;15(1):3952. doi: 10.1120/jacmp.v15i1.3952. J Appl Clin Med Phys. 2014. PMID: 24423829 Free PMC article.

3

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.

Kameli R, Ashrafi MR, Ehya F, Alizadeh H, Hosseinpour S, Garshasbi M, Tavasoli AR. Kameli R, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 Jan;63(1):103629. doi: 10.1016/j.ejmg.2019.02.002. Epub 2019 Feb 13. Eur J Med Genet. 2020. PMID: 30769224

4

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.

Rostami P, Hosseinpour S, Ashrafi MR, Alizadeh H, Garshasbi M, Tavasoli AR. Rostami P, et al. Among authors: tavasoli ar. Acta Neurol Belg. 2020 Jun;120(3):511-516. doi: 10.1007/s13760-019-01168-6. Epub 2019 Jun 20. Acta Neurol Belg. 2020. PMID: 31222513 Review.

5

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.

Kameli R, Amanat M, Rezaei Z, Hosseionpour S, Nikbakht S, Alizadeh H, Ashrafi MR, Omrani A, Garshasbi M, Tavasoli AR. Kameli R, et al. Among authors: tavasoli ar. Orphanet J Rare Dis. 2019 Jul 26;14(1):184. doi: 10.1186/s13023-019-1155-9. Orphanet J Rare Dis. 2019. PMID: 31349848 Free PMC article.

6

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Among authors: tavasoli ar. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.

7

A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.

Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M. Binaafar S, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 May;63(5):103853. doi: 10.1016/j.ejmg.2020.103853. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978613

8

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR. Hosseini Bereshneh A, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 May;63(5):103868. doi: 10.1016/j.ejmg.2020.103868. Epub 2020 Jan 28. Eur J Med Genet. 2020. PMID: 32004679

9

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.

Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M. Heidari E, et al. Among authors: tavasoli ar. Ann Hum Genet. 2020 Jul;84(4):315-323. doi: 10.1111/ahg.12378. Epub 2020 Feb 20. Ann Hum Genet. 2020. PMID: 32077500

10

Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.

Heidari E, Caddeo A, Zarabadi K, Masoudi M, Tavasoli AR, Romeo S, Garshasbi M. Heidari E, et al. Among authors: tavasoli ar. Genomics. 2020 Nov;112(6):4072-4077. doi: 10.1016/j.ygeno.2020.07.008. Epub 2020 Jul 6. Genomics. 2020. PMID: 32645526 Free article.

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