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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
2005 2
2006 2
2007 4
2008 4
2009 1
2010 3
2011 7
2012 7
2013 9
2014 8
2015 8
2016 9
2017 7
2018 8
2019 5
2020 8
2021 9
2022 0
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88 results
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Page 1
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M. Lin YC, et al. Among authors: petrini s. Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11. Am J Hum Genet. 2021. PMID: 33308444 Free PMC article.
Congenital muscular dystrophies: a brief review.
Bertini E, D'Amico A, Gualandi F, Petrini S. Bertini E, et al. Among authors: petrini s. Semin Pediatr Neurol. 2011 Dec;18(4):277-88. doi: 10.1016/j.spen.2011.10.010. Semin Pediatr Neurol. 2011. PMID: 22172424 Free PMC article. Review.
Spleen development is modulated by neonatal gut microbiota.
Rosado MM, Aranburu A, Scarsella M, Cascioli S, Giorda E, Del Chierico F, Mortera SL, Mortari EP, Petrini S, Putignani L, Carsetti R. Rosado MM, et al. Among authors: petrini s. Immunol Lett. 2018 Jul;199:1-15. doi: 10.1016/j.imlet.2018.04.010. Epub 2018 Apr 30. Immunol Lett. 2018. PMID: 29715493
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: petrini s. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. Verrigni D, et al. Among authors: petrini s. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875
Fulminant hepatic failure following measles.
Nobili V, Pietro S, Stefania P. Nobili V, et al. Among authors: stefania p. Pediatr Infect Dis J. 2007 Aug;26(8):766-7. doi: 10.1097/INF.0b013e3180cc2c4f. Pediatr Infect Dis J. 2007. PMID: 17848903 No abstract available.
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
Carinci M, Testa B, Bordi M, Milletti G, Bonora M, Antonucci L, Ferraina C, Carro M, Kumar M, Ceglie D, Eck F, Nardacci R, le Guerroué F, Petrini S, Soriano ME, Caruana I, Doria V, Manifava M, Peron C, Lambrughi M, Tiranti V, Behrends C, Papaleo E, Pinton P, Giorgi C, Ktistakis NT, Locatelli F, Nazio F, Cecconi F. Carinci M, et al. Among authors: petrini s. EMBO J. 2021 May 17;40(10):e103563. doi: 10.15252/embj.2019103563. Epub 2021 May 1. EMBO J. 2021. PMID: 33932238 Free PMC article.
88 results