Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

135 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: ottaviani d. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.
Lane A, Jovanovic K, Shortall C, Ottaviani D, Panes AB, Schwarz N, Guarascio R, Hayes MJ, Palfi A, Chadderton N, Farrar GJ, Hardcastle AJ, Cheetham ME. Lane A, et al. Among authors: ottaviani d. Stem Cell Reports. 2020 Jul 14;15(1):67-79. doi: 10.1016/j.stemcr.2020.05.007. Epub 2020 Jun 11. Stem Cell Reports. 2020. PMID: 32531192 Free PMC article.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: ottaviani d. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek OF, Athanasiou D, Jovanovic K, van der Spuy J, Mansfield BC, Cheetham ME. Corral-Serrano JC, et al. Among authors: ottaviani d. Cells. 2023 Jun 7;12(12):1575. doi: 10.3390/cells12121575. Cells. 2023. PMID: 37371046 Free PMC article.
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
Campostrini G, Kosmidis G, Ward-van Oostwaard D, Davis RP, Yiangou L, Ottaviani D, Veerman CC, Mei H, Orlova VV, Wilde AAM, Bezzina CR, Verkerk AO, Mummery CL, Bellin M. Campostrini G, et al. Among authors: ottaviani d. Cardiovasc Res. 2023 Mar 17;119(1):167-182. doi: 10.1093/cvr/cvac059. Cardiovasc Res. 2023. PMID: 35394010 Free PMC article.
Application of the NSE score (Neurology-Stability-Epidural compression assessment) to establish the need for surgery in spinal metastases of elderly patients: a multicenter investigation.
Di Perna G, Baldassarre B, Armocida D, De Marco R, Pesaresi A, Badellino S, Bozzaro M, Petrone S, Buffoni L, Sonetto C, De Luca E, Ottaviani D, Tartara F, Zenga F, Ajello M, Marengo N, Lanotte M, Altieri R, Certo F, Pesce A, Pompucci A, Frati A, Ricardi U, Barbagallo GM, Garbossa D, Cofano F. Di Perna G, et al. Among authors: ottaviani d. Eur Spine J. 2024 May 31. doi: 10.1007/s00586-024-08328-0. Online ahead of print. Eur Spine J. 2024. PMID: 38822150
135 results