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

Year Number of Results
1994 1
1996 1
1997 4
1998 4
1999 5
2000 4
2001 2
2002 8
2003 6
2004 6
2005 8
2006 12
2007 8
2008 13
2009 12
2010 8
2011 12
2012 20
2013 9
2014 7
2015 11
2016 7
2017 9
2018 8
2019 11
2020 2
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181 results
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Page 1
Mitral valve disease--morphology and mechanisms
Levine RA, et al. Nat Rev Cardiol 2015 - Review. Among authors: Dina C. PMID 26483167 Free PMC article.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Isidor B, et al. Hum Mutat 2016. Among authors: Dina C. PMID 26751395 Free article.
Through whole-exome sequencing in six unrelated nonconsanguineous families having a sporadic case of intellectual disability, we identified six novel de novo truncating mutations in CHAMP1: c.1880C>G p.(Ser627*), c.1489C>T; p.(Arg497*), c.1876_1877delAG; p.(Ser626Leufs*4), c.1043G>A; p.(Trp348*), c.1002G>A; p.(Trp334*), and c.958_959delCC; p....
Through whole-exome sequencing in six unrelated nonconsanguineous families having a sporadic case of intellectual disability, we identified …
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
Bourcier R, et al. Am J Hum Genet 2018. Among authors: Dina C. PMID 29304371 Free PMC article.
Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circulating pro-angiogenic factor mainly secreted from the liver-shared by the four tested affected members of a large pedigree with multiple IA-affected case subjects. We showed a 50% reduction of ANGPTL6 serum concentration in individuals heterozygous for the c.1378A>T allele (p.Lys460Ter) compared to relatives homozygous for the normal allele, probably due to the non-secretion of the truncated protein produced by the c.1378A>T transcripts. ...
Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circul …
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