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Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Tehrani Fateh S, Mohammad Zadeh N, Salehpour S, Hashemi-Gorji F, Omidi A, Sadeghi H, Mirfakhraie R, Moghimi P, Keyvanfar S, Mohammadi Sarvaleh S, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: ghasemi mr. BMC Med Genomics. 2024 Jan 12;17(1):20. doi: 10.1186/s12920-024-01798-7. BMC Med Genomics. 2024. PMID: 38216990 Free PMC article. Review.
CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene.
Sadeghi H, Esmkhani S, Pirjani R, Amin-Beidokhti M, Gholami M, Azizi Tabesh G, Ghasemi MR, Gachkar L, Mirfakhraie R. Sadeghi H, et al. Among authors: ghasemi mr. Mol Biol Rep. 2021 Mar;48(3):2117-2122. doi: 10.1007/s11033-021-06215-1. Epub 2021 Feb 24. Mol Biol Rep. 2021. PMID: 33625689
Correlated downregulation of VDR and CYP3A4 in colorectal cancer.
Sadeghi H, Hashemnia V, Nazemalhosseini-Mojarad E, Ghasemi MR, Mirfakhraie R. Sadeghi H, et al. Among authors: ghasemi mr. Mol Biol Rep. 2023 Feb;50(2):1385-1391. doi: 10.1007/s11033-022-08141-2. Epub 2022 Dec 5. Mol Biol Rep. 2023. PMID: 36469261
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.
Tehrani Fateh S, Bagheri S, Sadeghi H, Salehpour S, Fazeli Bavandpour F, Sadeghi B, Jamshidi S, Tonekaboni SH, Mirfakhraie R, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: ghasemi mr. Neurol Sci. 2023 Dec;44(12):4491-4498. doi: 10.1007/s10072-023-06960-0. Epub 2023 Jul 15. Neurol Sci. 2023. PMID: 37452996
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, Rezaei M, Hashemi-Gorji F, Rezvani Kashani M, Fazeli Bavandpour F, Bagheri S, Moghimi P, Rostami M, Madannejad R, Roudgari H, Miryounesi M. Ghasemi MR, et al. BMC Med Genomics. 2024 Feb 13;17(1):51. doi: 10.1186/s12920-024-01810-0. BMC Med Genomics. 2024. PMID: 38347586 Free PMC article.
33 results