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Page 1
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L. Scarano E, et al. Among authors: graziano c. Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15. Mol Syndromol. 2019. PMID: 31191201 Free PMC article.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Severi G, Bernardini L, Briuglia S, Bigoni S, Buldrini B, Magini P, Dentici ML, Cordelli DM, Arrigo T, Franzoni E, Fini S, Italyankina E, Loddo I, Novelli A, Graziano C. Severi G, et al. Among authors: graziano c. Am J Med Genet A. 2016 Jan;170A(1):162-9. doi: 10.1002/ajmg.a.37346. Epub 2015 Sep 3. Am J Med Genet A. 2016. PMID: 26333654
Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].
Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, Tamburrino F, Mongelli P, Percesepe A, Visconti P, Parmeggiani A, Seri M, Graziano C. Magini P, et al. Among authors: graziano c. Gene. 2020 Apr 20;735:144393. doi: 10.1016/j.gene.2020.144393. Epub 2020 Feb 6. Gene. 2020. PMID: 32037035 No abstract available.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: graziano c. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: graziano c. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
154 results