Bitarafan F - Search Results

1

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Gilani N, Bitarafan F, Ozaslan M, Åsheim S, Heidari M, Garshasbi M. Gilani N, et al. Among authors: bitarafan f. Mol Genet Genomic Med. 2024 Jun;12(6):e2476. doi: 10.1002/mgg3.2476. Mol Genet Genomic Med. 2024. PMID: 38888203 Free PMC article. Review.

2

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E. Misceo D, et al. Among authors: bitarafan f. Genes (Basel). 2024 Apr 17;15(4):500. doi: 10.3390/genes15040500. Genes (Basel). 2024. PMID: 38674434 Free PMC article.

3

Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.

Khodaeian M, Bitarafan F, Garrousi F, Sardehie EA, Pak N, Hosseinpour S, Shakiba M, Falah M, Garshasbi M, Tavasoli AR. Khodaeian M, et al. Among authors: bitarafan f. J Clin Lab Anal. 2023 Nov;37(21-22):e24983. doi: 10.1002/jcla.24983. Epub 2023 Nov 10. J Clin Lab Anal. 2023. PMID: 37950505 Free PMC article.

4

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

Bitarafan F, Khodaeian M, Garrousi F, Khalesi R, Ghazi Nader D, Karimi B, Alibakhshi R, Garshasbi M. Bitarafan F, et al. BMC Endocr Disord. 2023 Jul 20;23(1):155. doi: 10.1186/s12902-023-01388-1. BMC Endocr Disord. 2023. PMID: 37474955 Free PMC article.

5

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report.

Bitarafan F, Razmara E, Jafarinia E, Almadani N, Garshasbi M. Bitarafan F, et al. Eur J Clin Invest. 2023 Apr;53(4):e13946. doi: 10.1111/eci.13946. Epub 2023 Jan 10. Eur J Clin Invest. 2023. PMID: 36576366

6

Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women.

Bitarafan F, Hekmat MR, Khodaeian M, Razmara E, Ashrafganjoei T, Modares Gilani M, Mohit M, Aminimoghaddam S, Cheraghi F, Khalesi R, Rajabzadeh P, Sarmadi S, Garshasbi M. Bitarafan F, et al. Int J Infect Dis. 2021 Oct;111:295-302. doi: 10.1016/j.ijid.2021.07.071. Epub 2021 Jul 31. Int J Infect Dis. 2021. PMID: 34343706 Free article.

7

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.

Jamali E, Khalesi R, Bitarafan F, Almadani N, Garshasbi M. Jamali E, et al. Among authors: bitarafan f. Iran Biomed J. 2021 Jul 1;25(4):297-302. doi: 10.52547/ibj.25.4.297. Iran Biomed J. 2021. PMID: 34217160 Free PMC article.

8

Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.

Khodaeian M, Jafarinia E, Bitarafan F, Shafeii S, Almadani N, Daneshmand MA, Garshasbi M. Khodaeian M, et al. Among authors: bitarafan f. Mol Syndromol. 2021 Apr;12(2):118-126. doi: 10.1159/000513199. Epub 2021 Feb 17. Mol Syndromol. 2021. PMID: 34012382 Free PMC article.

9

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.

Bitarafan F, Khodaeian M, Amjadi Sardehaei E, Darvishi FZ, Almadani N, Nilipour Y, Garshasbi M. Bitarafan F, et al. Mol Cell Pediatr. 2021 May 9;8(1):6. doi: 10.1186/s40348-021-00116-w. Mol Cell Pediatr. 2021. PMID: 33969448 Free PMC article.

10

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Zardadi S, Razmara E, Asgaritarghi G, Jafarinia E, Bitarafan F, Rayat S, Almadani N, Morovvati S, Garshasbi M. Zardadi S, et al. Among authors: bitarafan f. Mol Genet Genomic Med. 2020 Dec;8(12):e1550. doi: 10.1002/mgg3.1550. Epub 2020 Nov 18. Mol Genet Genomic Med. 2020. PMID: 33205915 Free PMC article.

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