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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Dentici ML, Bergonzini P, Scibelli F, Caciolo C, De Rose P, Cumbo F, Alesi V, Capolino R, Zanni G, Sinibaldi L, Novelli A, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S, Alfieri P. Dentici ML, et al. Among authors: zanni g. Brain Sci. 2020 Nov 11;10(11):839. doi: 10.3390/brainsci10110839. Brain Sci. 2020. PMID: 33187326 Free PMC article.
X-linked congenital ataxia: a clinical and genetic study.
Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Among authors: zanni g. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
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. Among authors: zanni g. 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.
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G. Compagnucci C, et al. Among authors: zanni g. Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9. Stem Cells Transl Med. 2016. PMID: 27160703 Free PMC article.
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: zanni g. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
292 results