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652 results

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Page 1
Exome sequencing in suspected monogenic dyslipidemias.
Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. Stitziel NO, et al. Among authors: mabuchi h. Circ Cardiovasc Genet. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27. Circ Cardiovasc Genet. 2015. PMID: 25632026 Free PMC article.
Clinical whole exome sequencing in severe hypertriglyceridemia.
Tada H, Nomura A, Okada H, Nakahashi T, Nozue T, Hayashi K, Nohara A, Yagi K, Inazu A, Michishita I, Mabuchi H, Yamagishi M, Kawashiri MA. Tada H, et al. Among authors: mabuchi h. Clin Chim Acta. 2019 Jan;488:31-39. doi: 10.1016/j.cca.2018.10.041. Epub 2018 Oct 30. Clin Chim Acta. 2019. PMID: 30389453
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD. Hopkins PN, et al. Among authors: mabuchi h. Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi: 10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15. Circ Cardiovasc Genet. 2015. PMID: 26374825 Free PMC article. Clinical Trial.
Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.
Tada H, Kawashiri MA, Ikewaki K, Terao Y, Noguchi T, Nakanishi C, Tsuchida M, Takata M, Miwa K, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M. Tada H, et al. Among authors: mabuchi h. Circ Cardiovasc Genet. 2012 Feb 1;5(1):35-41. doi: 10.1161/CIRCGENETICS.111.960948. Epub 2011 Dec 9. Circ Cardiovasc Genet. 2012. PMID: 22157599
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Tada H, Kawashiri MA, Nohara A, Saito R, Tanaka Y, Nomura A, Konno T, Sakata K, Fujino N, Takamura T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K. Tada H, et al. Among authors: mabuchi h. Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003. Epub 2015 Apr 7. Atherosclerosis. 2015. PMID: 25875382
Molecular and functional characterization of familial chylomicronemia syndrome.
Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K. Teramoto R, et al. Among authors: mabuchi h. Atherosclerosis. 2018 Feb;269:272-278. doi: 10.1016/j.atherosclerosis.2017.11.006. Epub 2017 Nov 14. Atherosclerosis. 2018. PMID: 29153744
Remnant lipoproteins and atherosclerotic cardiovascular disease.
Tada H, Nohara A, Inazu A, Mabuchi H, Kawashiri MA. Tada H, et al. Among authors: mabuchi h. Clin Chim Acta. 2019 Mar;490:1-5. doi: 10.1016/j.cca.2018.12.014. Epub 2018 Dec 13. Clin Chim Acta. 2019. PMID: 30553862 Review.
652 results