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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: genuardi m. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Among authors: genuardi m. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.
Marangi G, Garcovich S, Sante GD, Orteschi D, Frangella S, Scaldaferri F, Genuardi M, Peris K, Gurrieri F, Zollino M. Marangi G, et al. Among authors: genuardi m. Acta Derm Venereol. 2020 Jan 23;100(1):adv00038. doi: 10.2340/00015555-3370. Acta Derm Venereol. 2020. PMID: 31709449 Free PMC article. No abstract available.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
Nobile V, Palumbo F, Lanni S, Ghisio V, Vitali A, Castagnola M, Marzano V, Maulucci G, De Angelis C, De Spirito M, Pacini L, D'Andrea L, Ragno R, Stazi G, Valente S, Mai A, Chiurazzi P, Genuardi M, Neri G, Tabolacci E. Nobile V, et al. Among authors: genuardi m. Hum Genet. 2020 Feb;139(2):227-245. doi: 10.1007/s00439-019-02104-7. Epub 2020 Jan 9. Hum Genet. 2020. PMID: 31919630
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: genuardi m. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
296 results