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2015 1
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Page 1
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: cocciadiferro d. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 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.
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
Fontana P, Agolini E, Cocciadiferro D, Mazzarelli LL, Di Meglio A, Novelli A, Scarano G, Lombardi C, Ciavarella M, Lonardo F. Fontana P, et al. Among authors: cocciadiferro d. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2205985. doi: 10.1080/14767058.2023.2205985. J Matern Fetal Neonatal Med. 2023. PMID: 37100787 Free article.
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.
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.
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
Novelli G, Liu J, Biancolella M, Alonzi T, Novelli A, Patten JJ, Cocciadiferro D, Agolini E, Colona VL, Rizzacasa B, Giannini R, Bigio B, Goletti D, Capobianchi MR, Grelli S, Mann J, McKee TD, Cheng K, Amanat F, Krammer F, Guarracino A, Pepe G, Tomino C, Tandjaoui-Lambiotte Y, Uzunhan Y, Tubiana S, Ghosn J; COVID Human Genetic Effort; French COVID Cohort Study Group; CoV-Contact Cohort; Notarangelo LD, Su HC, Abel L, Cobat A, Elhanan G, Grzymski JJ, Latini A, Sidhu SS, Jain S, Davey RA, Casanova JL, Wei W, Pandolfi PP. Novelli G, et al. Among authors: cocciadiferro d. Cell Death Dis. 2021 Mar 24;12(4):310. doi: 10.1038/s41419-021-03513-1. Cell Death Dis. 2021. PMID: 33762578 Free PMC article.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: cocciadiferro d. Clin Genet. 2023 Feb;103(2):156-166. doi: 10.1111/cge.14247. Epub 2022 Nov 24. Clin Genet. 2023. PMID: 36224108 Free PMC article.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Guadagnolo D, Mastromoro G, Torres B, Marchionni E, di Palma F, Goldoni M, Cocciadiferro D, Novelli A, Bernardini L, Pizzuti A. Guadagnolo D, et al. Among authors: cocciadiferro d. Genes (Basel). 2023 Nov 29;14(12):2157. doi: 10.3390/genes14122157. Genes (Basel). 2023. PMID: 38136979 Free PMC article. Review.
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.
32 results