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

Year Number of Results
1981 1
1996 1
1997 1
2007 1
2008 1
2009 1
2010 1
2012 1
2013 1
2015 1
2016 1
2017 2
2018 1
2019 2
2020 1
2024 0

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PubMed for id: 812909

13 results

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Page 1
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Jenkins ZA, et al. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29024177
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M. Berrou E, et al. Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1087-1097. doi: 10.1161/ATVBAHA.117.309337. Epub 2017 Apr 20. Arterioscler Thromb Vasc Biol. 2017. PMID: 28428218
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T. Oda H, et al. Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059841 Free PMC article.
13 results