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702 results

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Page 1
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: sadeghi h. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
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: sadeghi h, sadeghi b. Neurol Sci. 2023 Dec;44(12):4491-4498. doi: 10.1007/s10072-023-06960-0. Epub 2023 Jul 15. Neurol Sci. 2023. PMID: 37452996
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: sadeghi h. BMC Med Genomics. 2024 Aug 5;17(1):196. doi: 10.1186/s12920-024-01969-6. BMC Med Genomics. 2024. PMID: 39103847 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: sadeghi h. 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.
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. Among authors: sadeghi h. 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.
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.
Moeinafshar A, Tehrani Fateh S, Hashemi-Gorji F, Karimzadeh P, Gholibeglou E, Rostami M, Sadeghi H, Miryounesi M, Ghasemi MR. Moeinafshar A, et al. Among authors: sadeghi h. BMC Neurol. 2024 Nov 20;24(1):455. doi: 10.1186/s12883-024-03963-y. BMC Neurol. 2024. PMID: 39567938 Free PMC article. Review.
702 results