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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.
Ghasemi MR, Esmaeilizadeh Z, Tehrani Fateh S, Sadeghi H, Bagheri S, Hashemi-Gorji F, Sheikhi Nooshabadi M, Madannezhad R, Tavabe Ghavami TS, Mirfakhraie R, Miryounesi M. Ghasemi MR, et al. Among authors: sadeghi h. Mol Genet Genomic Med. 2025 Jan;13(1):e70057. doi: 10.1002/mgg3.70057. Mol Genet Genomic Med. 2025. PMID: 39835750 Review.
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
704 results