Nakaya SM - Search Results

1

Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel.

Sirocova N, Tsourea V, Vicol M, Barbacar N, Nakaya SM, Thompson AR, Pratt KP. Sirocova N, et al. Among authors: nakaya sm. Haemophilia. 2009 Jul;15(4):942-51. doi: 10.1111/j.1365-2516.2009.02021.x. Epub 2009 Apr 20. Haemophilia. 2009. PMID: 19473408

2

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM. Peyvandi F, et al. Among authors: nakaya sm. Haemophilia. 2006 Jul;12 Suppl 3:82-9. doi: 10.1111/j.1365-2516.2006.01263.x. Haemophilia. 2006. PMID: 16684001 Review.

3

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.

Liu ML, Nakaya S, Thompson AR. Liu ML, et al. Thromb Haemost. 2002 Feb;87(2):273-6. Thromb Haemost. 2002. PMID: 11858487

4

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.

Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR. Liu ML, et al. Blood. 2000 Aug 1;96(3):979-87. Blood. 2000. PMID: 10910913 Free article.

5

Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.

Nakaya S, Liu ML, Thompson AR. Nakaya S, et al. Br J Haematol. 2001 Dec;115(4):977-82. doi: 10.1046/j.1365-2141.2001.03173.x. Br J Haematol. 2001. PMID: 11843836 Free article.

6

Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: non-homologous recombination associated with a shortened transcript from whole blood.

Hsu TC, Nakaya SM, Thompson AR. Hsu TC, et al. Among authors: nakaya sm. Thromb Haemost. 2007 Feb;97(2):176-80. Thromb Haemost. 2007. PMID: 17264943

7

Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24.

Nakaya SM, Hsu TC, Geraghty SJ, Manco-Johnson MJ, Thompson AR. Nakaya SM, et al. J Thromb Haemost. 2004 Nov;2(11):1941-5. doi: 10.1111/j.1538-7836.2004.00963.x. J Thromb Haemost. 2004. PMID: 15550025 Free article.

8

Inhibitors of factor VIII in black patients with hemophilia.

Viel KR, Ameri A, Abshire TC, Iyer RV, Watts RG, Lutcher C, Channell C, Cole SA, Fernstrom KM, Nakaya S, Kasper CK, Thompson AR, Almasy L, Howard TE. Viel KR, et al. N Engl J Med. 2009 Apr 16;360(16):1618-27. doi: 10.1056/NEJMoa075760. N Engl J Med. 2009. PMID: 19369668 Free PMC article.

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