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Page 1
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: micalizzi a. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: micalizzi a. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Flex E, et al. Among authors: micalizzi a. Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213. Hum Mol Genet. 2023. PMID: 36018820 Free PMC article.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: micalizzi a. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: micalizzi a. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: micalizzi a. Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Eur Radiol. 2017. PMID: 28677066
63 results