Zamani M - Search Results

1

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: zamani m. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.

2

Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

Dilaver N, Mazaheri N, Maroofian R, Zeighami J, Seifi T, Zamani M, Sedaghat A, Shariati GR, Galehdari H. Dilaver N, et al. Among authors: zamani m. Mol Syndromol. 2017 Dec;9(1):25-29. doi: 10.1159/000481897. Epub 2017 Nov 15. Mol Syndromol. 2017. PMID: 29456480 Free PMC article.

3

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP. Jones EG, et al. Among authors: zamani m. Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6. Sci Rep. 2019. PMID: 31227780 Free PMC article.

4

Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.

Zamani M, Shariati G, Seifi T, Sedaghat A, Galehdari H. Zamani M, et al. Intractable Rare Dis Res. 2020 Feb;9(1):48-53. doi: 10.5582/irdr.2019.01109. Intractable Rare Dis Res. 2020. PMID: 32201676 Free PMC article.

5

HOXC10 is significantly overexpressed in colorectal cancer.

Enteghami M, Ghorbani M, Zamani M, Galehdari H. Enteghami M, et al. Among authors: zamani m. Biomed Rep. 2020 Sep;13(3):18. doi: 10.3892/br.2020.1325. Epub 2020 Jul 28. Biomed Rep. 2020. PMID: 32765857 Free PMC article.

6

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.

Negahdari S, Zamani M, Seifi T, Sedighzadeh S, Mazaheri N, Zeighami J, Sedaghat A, Saberi A, Hamid M, Keikhaei B, Radpour R, Shariati G, Galehdari H. Negahdari S, et al. Among authors: zamani m. Int J Prev Med. 2020 Aug 6;11:117. doi: 10.4103/ijpvm.IJPVM_462_19. eCollection 2020. Int J Prev Med. 2020. PMID: 33088445 Free PMC article.

7

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.

Zamani M, Seifi T, Zeighami J, Mazaheri N, Jahangirnezhad E, Gholamzadeh M, Sedaghat A, Shariati G, Galehdari H. Zamani M, et al. Basic Clin Neurosci. 2020 Jul-Aug;11(4):549-556. doi: 10.32598/bcn.9.10.455. Epub 2020 Jul 1. Basic Clin Neurosci. 2020. PMID: 33613893 Free PMC article.

8

Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.

Sedighzadeh SS, Sedaghat A, Zamani M, Seifi T, Shariati G, Zeighami J, Mazaheri N, Galehdari H. Sedighzadeh SS, et al. Among authors: zamani m. Congenit Anom (Kyoto). 2021 Nov;61(6):220-225. doi: 10.1111/cga.12439. Epub 2021 Aug 8. Congenit Anom (Kyoto). 2021. PMID: 34272776

9

Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.

Zamani M, Seifi T, Sedighzadeh S, Negahdari S, Zeighami J, Sedaghat A, Yadegari T, Saberi A, Hamid M, Shariati G, Galehdari H. Zamani M, et al. Kidney360. 2021 Mar 10;2(5):873-877. doi: 10.34067/KID.0006902020. eCollection 2021 May 27. Kidney360. 2021. PMID: 35373060 Free PMC article. No abstract available.

10

Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

Zamani M, Sedighzadeh S, Seifi T, Negahdari S, Zeighami J, Sedaghat A, Shariati G, Galehdari H. Zamani M, et al. Mol Genet Genomics. 2022 Sep;297(5):1289-1300. doi: 10.1007/s00438-022-01917-y. Epub 2022 Jun 26. Mol Genet Genomics. 2022. PMID: 35754085

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