-
1
-
-
0024331438
-
Structure of the gene for human von Willebrand factor
-
Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, et al. Structure of the gene for human von Willebrand factor. J Biol Chem. 1989;264(33):19514-27.
-
(1989)
J Biol Chem
, vol.264
, Issue.33
, pp. 19514-19527
-
-
Mancuso, D.J.1
Tuley, E.A.2
Westfield, L.A.3
Worrall, N.K.4
Shelton-Inloes, B.B.5
Sorace, J.M.6
-
2
-
-
66049121391
-
Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease
-
Federici AB, Canciani MT. Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease. Haematologica. 2009;94(5):610-5.
-
(2009)
Haematologica
, vol.94
, Issue.5
, pp. 610-615
-
-
Federici, A.B.1
Canciani, M.T.2
-
3
-
-
0025231623
-
Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene
-
Bernardi F, Marchetti G, Casonato A, Gemmati D, Patracchini P, Legnani C, et al. Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene. Br J Haematol. 1990;74(3):282-9.
-
(1990)
Br J Haematol
, vol.74
, Issue.3
, pp. 282-289
-
-
Bernardi, F.1
Marchetti, G.2
Casonato, A.3
Gemmati, D.4
Patracchini, P.5
Legnani, C.6
-
4
-
-
62549143505
-
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene
-
Corrales I, Ramirez L, Altisent C, Parra R, Vidal F. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost. 2009;101(3):570-6.
-
(2009)
Thromb Haemost
, vol.101
, Issue.3
, pp. 570-576
-
-
Corrales, I.1
Ramirez, L.2
Altisent, C.3
Parra, R.4
Vidal, F.5
-
5
-
-
0028201807
-
A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1994;71(4):520-5.
-
(1994)
Thromb Haemost
, vol.71
, Issue.4
, pp. 520-525
-
-
Sadler, J.E.1
-
6
-
-
33748802581
-
Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand Factor
-
Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4(10):2103-14.
-
(2006)
J Thromb Haemost
, vol.4
, Issue.10
, pp. 2103-2114
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.3
Favaloro, E.J.4
Hill, F.G.5
Holmberg, L.6
-
7
-
-
0035001737
-
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor
-
Goodeve AC, Eikenboom JC, Ginsburg D, Hilbert L, Mazurier C, Peake IR, et al. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost. 2001;85(5):929-31.
-
(2001)
Thromb Haemost
, vol.85
, Issue.5
, pp. 929-931
-
-
Goodeve, A.C.1
Eikenboom, J.C.2
Ginsburg, D.3
Hilbert, L.4
Mazurier, C.5
Peake, I.R.6
-
8
-
-
38149072338
-
Recommendations for locus-specific databases and their curation
-
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, et al. Recommendations for locus-specific databases and their curation. Hum Mutat. 2008;29(1):2-5.
-
(2008)
Hum Mutat
, vol.29
, Issue.1
, pp. 2-5
-
-
Cotton, R.G.1
Auerbach, A.D.2
Beckmann, J.S.3
Blumenfeld, O.O.4
Brookes, A.J.5
Brown, A.F.6
-
9
-
-
0036107052
-
Time for a unified system of mutation description and reporting: A review of locus-specific mutation databases
-
Claustres M, Horaitis O, Vanevski M, Cotton RG. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res. 2002;12(5):680-8.
-
(2002)
Genome Res
, vol.12
, Issue.5
, pp. 680-688
-
-
Claustres, M.1
Horaitis, O.2
Vanevski, M.3
Cotton, R.G.4
-
10
-
-
46749098393
-
Evaluation of in silico splice tools for decision-making in molecular diagnosis
-
Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages-Berhouet S, et al. Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat. 2008;29(7):975-82.
-
(2008)
Hum Mutat
, vol.29
, Issue.7
, pp. 975-982
-
-
Houdayer, C.1
Dehainault, C.2
Mattler, C.3
Michaux, D.4
Caux-Moncoutier, V.5
Pages-Berhouet, S.6
-
11
-
-
0027500241
-
von Willebrand disease: A database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Ginsburg D, Sadler JE. von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1993;69(2):177-84.
-
(1993)
Thromb Haemost
, vol.69
, Issue.2
, pp. 177-184
-
-
Ginsburg, D.1
Sadler, J.E.2
-
12
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet. 2008;24(3):133-41.
-
(2008)
Trends Genet
, vol.24
, Issue.3
, pp. 133-141
-
-
Mardis, E.R.1
|