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Year Number of Results
2015 1
2016 3
2017 1
2018 3
2019 3
2020 8
2021 0
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16 results
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Page 1
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Morlino S, et al. Among authors: cocciadiferro d. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31794058
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
Novelli G, Novelli A, Borgiani P, Cocciadiferro D, Biancolella M, Agolini E, Pietrosanto M, Casalone R, Helmer-Citterich M, Giardina E, Jain SK, Wei W, Eng C, Pandolfi PP. Novelli G, et al. Among authors: cocciadiferro d. Cell Death Dis. 2020 Jul 23;11(7):529. doi: 10.1038/s41419-020-2681-z. Cell Death Dis. 2020. PMID: 32699206 Free PMC article. No abstract available.
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
Novelli A, Biancolella M, Borgiani P, Cocciadiferro D, Colona VL, D'Apice MR, Rogliani P, Zaffina S, Leonardis F, Campana A, Raponi M, Andreoni M, Grelli S, Novelli G. Novelli A, et al. Among authors: cocciadiferro d. Hum Genomics. 2020 Sep 11;14(1):29. doi: 10.1186/s40246-020-00279-z. Hum Genomics. 2020. PMID: 32917283 Free PMC article.
TRIM50 regulates Beclin 1 proautophagic activity.
Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G. Fusco C, et al. Among authors: cocciadiferro d. Biochim Biophys Acta Mol Cell Res. 2018 Jun;1865(6):908-919. doi: 10.1016/j.bbamcr.2018.03.011. Epub 2018 Mar 29. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29604308 Free article.
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P. Majore S, et al. Among authors: cocciadiferro d. Clin Genet. 2020 Dec 28. doi: 10.1111/cge.13911. Online ahead of print. Clin Genet. 2020. PMID: 33372278
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini E, Cherchi C, Bellacchio E, Martinelli D, Cocciadiferro D, Cutrera R, Chiarini Testa MB, Barone C, Bianca S, Novelli A. Agolini E, et al. Among authors: cocciadiferro d. Clin Genet. 2020 Apr;97(4):649-654. doi: 10.1111/cge.13691. Epub 2020 Feb 20. Clin Genet. 2020. PMID: 31846058
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: cocciadiferro d. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P. Giannantonio S, et al. Among authors: cocciadiferro d. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109790. doi: 10.1016/j.ijporl.2019.109790. Epub 2019 Nov 22. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31786483
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
Piazzolla M, Castellaneta N, Novelli A, Agolini E, Cocciadiferro D, Resta L, Duda L, Barone M, Ierardi E, Di Leo A. Piazzolla M, et al. Among authors: cocciadiferro d. World J Hepatol. 2020 Feb 27;12(2):64-71. doi: 10.4254/wjh.v12.i2.64. World J Hepatol. 2020. PMID: 32184942 Free PMC article.
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