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

Year Number of Results
1989 1
1990 2
1992 1
1995 1
1996 1
1998 2
1999 5
2000 4
2001 5
2002 5
2003 2
2004 1
2005 3
2006 2
2007 1
2008 2
2009 1
2010 3
2012 1
2013 3
2014 2
2016 1
2017 1
2018 2
2019 2
2024 0

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PubMed for id: 409063

51 results

Results by year

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Page 1
Novel ACTN1 variants in cases of thrombocytopenia.
Vincenot A, Saultier P, Kunishima S, Poggi M, Hurtaud-Roux MF, Roussel A, Actn Study Coinvestigators, Schlegel N, Alessi MC. Vincenot A, et al. Hum Mutat. 2019 Dec;40(12):2258-2269. doi: 10.1002/humu.23840. Epub 2019 Nov 6. Hum Mutat. 2019. PMID: 31237726 Free PMC article.
ACTN1 variants associated with thrombocytopenia.
Westbury SK, Shoemark DK, Mumford AD. Westbury SK, et al. Platelets. 2017 Sep;28(6):625-627. doi: 10.1080/09537104.2017.1356455. Epub 2017 Aug 31. Platelets. 2017. PMID: 28856919 Review. No abstract available.
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I. Girolami F, et al. Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30. Circ Cardiovasc Genet. 2014. PMID: 25173926
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C. Guéguen P, et al. PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013. PLoS One. 2013. PMID: 24069336 Free PMC article.
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.
51 results