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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 1
2007 1
2009 4
2010 5
2011 4
2012 11
2013 3
2014 2
2015 2
2016 4
2017 1
2018 1
2019 6
2020 16
2021 18
2022 25
2023 25
2024 3

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112 results

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Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: onesimo r. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: onesimo r. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: onesimo r. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 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: onesimo r. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Early Gross Motor Milestones in Duchenne Muscular Dystrophy.
Norcia G, Lucibello S, Coratti G, Onesimo R, Pede E, Ferrantini G, Brogna C, Cicala G, Carnicella S, Forcina N, Fanelli L, Pane M, Mercuri E. Norcia G, et al. Among authors: onesimo r. J Neuromuscul Dis. 2021;8(4):453-456. doi: 10.3233/JND-210640. J Neuromuscul Dis. 2021. PMID: 33935100 Free PMC article. Review.
Drooling outcome measures in paediatric disability: a systematic review.
Sforza E, Onesimo R, Leoni C, Giorgio V, Proli F, Notaro F, Kuczynska EM, Cerchiari A, Selicorni A, Rigante D, Zampino G. Sforza E, et al. Among authors: onesimo r. Eur J Pediatr. 2022 Jul;181(7):2575-2592. doi: 10.1007/s00431-022-04460-5. Epub 2022 Apr 20. Eur J Pediatr. 2022. PMID: 35441248 Free PMC article. Review.
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
Leoni C, Viscogliosi G, Onesimo R, Verdolotti T, Biagini T, Mazza T, De Luca A, Perri L, Trevisan V, Flex E, Tartaglia M, Zampino G. Leoni C, et al. Among authors: onesimo r. Clin Genet. 2023 Jul;104(1):136-138. doi: 10.1111/cge.14308. Epub 2023 Feb 21. Clin Genet. 2023. PMID: 36757675
112 results