Almadani N - Search Results

1

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Agha Gholizadeh M, Behjati F, Ghasemi Firouzabadi S, Heidari E, Razmara E, Almadani N, Sharifi Zarchi A, Garshasbi M. Agha Gholizadeh M, et al. Among authors: almadani n. Neurogenetics. 2024 Oct;25(4):377-391. doi: 10.1007/s10048-024-00768-6. Epub 2024 Jul 8. Neurogenetics. 2024. PMID: 38976082

2

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

Razmara E, Bitarafan F, Esmaeilzadeh-Gharehdaghi E, Almadani N, Garshasbi M. Razmara E, et al. Among authors: almadani n. Iran J Basic Med Sci. 2018 Mar;21(3):333-341. doi: 10.22038/IJBMS.2018.26269.6441. Iran J Basic Med Sci. 2018. PMID: 29511501 Free PMC article.

3

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: almadani n. 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.

4

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: almadani n. 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.

5

Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.

Heidari E, Harrison AN, Jafarinia E, Tavasoli AR, Almadani N, Molday RS, Garshasbi M. Heidari E, et al. Among authors: almadani n. Hum Mutat. 2021 May;42(5):491-497. doi: 10.1002/humu.24180. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33565221

6

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Mohammadi P, Salehi Siavashani E, Mohammadi MF, Bahramy A, Almadani N, Garshasbi M. Mohammadi P, et al. Among authors: almadani n. Mol Genet Genomic Med. 2021 Nov;9(11):e1834. doi: 10.1002/mgg3.1834. Epub 2021 Oct 12. Mol Genet Genomic Med. 2021. PMID: 34636477 Free PMC article.

7

Compound heterozygous variants in SPNS2 cause sensorineural hearing loss.

Mardani S, Almadani N, Garshasbi M. Mardani S, et al. Among authors: almadani n. Eur J Med Genet. 2023 Jan;66(1):104658. doi: 10.1016/j.ejmg.2022.104658. Epub 2022 Dec 6. Eur J Med Genet. 2023. PMID: 36494063

8

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. Among authors: almadani n. 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

9

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: almadani n. 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.

10

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.

Bitarafan F, Khodaeian M, Almadani N, Kalhor A, Sardehaei EA, Garshasbi M. Bitarafan F, et al. Among authors: almadani n. Fetal Pediatr Pathol. 2021 Apr;40(2):174-180. doi: 10.1080/15513815.2019.1686784. Epub 2019 Nov 9. Fetal Pediatr Pathol. 2021. PMID: 31707899

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