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

Year Number of Results
1998 5
1999 1
2000 1
2001 1
2002 1
2003 3
2004 3
2005 7
2006 3
2007 3
2008 5
2009 4
2010 4
2011 8
2012 11
2013 11
2014 13
2015 11
2016 13
2017 11
2018 13
2019 10
2020 17
2021 15
2022 0
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154 results
Results by year
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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.
Cell-derived microparticles and the lung.
Nieri D, Neri T, Petrini S, Vagaggini B, Paggiaro P, Celi A. Nieri D, et al. Among authors: petrini s. Eur Respir Rev. 2016 Sep;25(141):266-77. doi: 10.1183/16000617.0009-2016. Eur Respir Rev. 2016. PMID: 27581826 Free article. Review.
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.
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
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.
A review of HIV-1 Tat protein biological effects.
Pugliese A, Vidotto V, Beltramo T, Petrini S, Torre D. Pugliese A, et al. Among authors: petrini s. Cell Biochem Funct. 2005 Jul-Aug;23(4):223-7. doi: 10.1002/cbf.1147. Cell Biochem Funct. 2005. PMID: 15473004 Review.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: petrini s. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137
154 results