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Page 1
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
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.
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.
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.
Shokrollahi N, Tehrani Fateh S, Nouri M, Behnam A, Moghimi P, Sadeghi H, Mirfakhraie R, Roudgari H, Jamshidi S, Miryounesi M, Ghasemi MR. Shokrollahi N, et al. Among authors: ghasemi mr. Neurol Sci. 2024 Aug;45(8):3979-3987. doi: 10.1007/s10072-024-07413-y. Epub 2024 Feb 29. Neurol Sci. 2024. PMID: 38421525 Review.
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, Tehrani Fateh S, Mirfakhraie R, Karimzadeh P, Davarpanah M, Jamshidi S, Madannejad R, Moghimi P, Ekrami M, Miryounesi M, Ghasemi MR. Norouzi Rostami F, et al. Among authors: ghasemi mr. Heliyon. 2024 Mar 6;10(6):e27434. doi: 10.1016/j.heliyon.2024.e27434. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38501011 Free PMC article.
39 results