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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. Broly M, et al. Among authors: sanchini m. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196516 Free PMC article.
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Tonelli L, Sanchini M, Margutti A, Buldrini B, Superti-Furga A, Ferlini A, Selvatici R, Bigoni S. Tonelli L, et al. Among authors: sanchini m. Eur J Med Genet. 2024 Apr 27;69:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print. Eur J Med Genet. 2024. PMID: 38679371 Free article.
Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene.
Balla C, De Raffele M, Deserio MA, Sanchini M, Farnè M, Trabanelli C, Ragni L, Biffi M, Ferlini A, Rapezzi C, Gualandi F, Bertini M. Balla C, et al. Among authors: sanchini m. J Cardiovasc Dev Dis. 2021 Sep 9;8(9):109. doi: 10.3390/jcdd8090109. J Cardiovasc Dev Dis. 2021. PMID: 34564127 Free PMC article.
Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family.
Balla C, Mele D, Vitali F, Andreoli C, Tonet E, Sanchini M, Ferlini A, Rapezzi C, Gualandi F, Bertini M. Balla C, et al. Among authors: sanchini m. Circ Genom Precis Med. 2021 Dec;14(6):e003481. doi: 10.1161/CIRCGEN.121.003481. Epub 2021 Nov 9. Circ Genom Precis Med. 2021. PMID: 34749512 Free PMC article. No abstract available.
Relevance of urine telomerase in the diagnosis of bladder cancer.
Sanchini MA, Gunelli R, Nanni O, Bravaccini S, Fabbri C, Sermasi A, Bercovich E, Ravaioli A, Amadori D, Calistri D. Sanchini MA, et al. JAMA. 2005 Oct 26;294(16):2052-6. doi: 10.1001/jama.294.16.2052. JAMA. 2005. PMID: 16249419
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