-
1
-
-
0027943943
-
Inherited protein S deficiency: clinical manifestations and laboratory findings in 63 patients
-
Gouault-Heilmann M., Leroy-Matheron C., and Levent M. Inherited protein S deficiency: clinical manifestations and laboratory findings in 63 patients. Thromb Res 76 (1994) 269-279
-
(1994)
Thromb Res
, vol.76
, pp. 269-279
-
-
Gouault-Heilmann, M.1
Leroy-Matheron, C.2
Levent, M.3
-
2
-
-
0023851558
-
The gene for protein S maps near the centromere of human chromosome 3
-
Watkins P.C., Eddy R., Fukushima Y., Byers M.G., Cohen E.H., Dackowski W.R., et al. The gene for protein S maps near the centromere of human chromosome 3. Blood 71 (1988) 238-241
-
(1988)
Blood
, vol.71
, pp. 238-241
-
-
Watkins, P.C.1
Eddy, R.2
Fukushima, Y.3
Byers, M.G.4
Cohen, E.H.5
Dackowski, W.R.6
-
3
-
-
0025182946
-
Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization
-
Edenbrandt C.M., Lundwall A., Wydro R., and Stenflo J. Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 29 (1990) 7861-7868
-
(1990)
Biochemistry
, vol.29
, pp. 7861-7868
-
-
Edenbrandt, C.M.1
Lundwall, A.2
Wydro, R.3
Stenflo, J.4
-
4
-
-
0033678567
-
Protein S deficiency: a database of mutations-summary of the first update
-
Gandrille S., Borgel D., Sala N., Espinosa-Parrilla Y., Simmonds R., Rezende S., et al. Protein S deficiency: a database of mutations-summary of the first update. Thromb Haemost 84 (2000) 918
-
(2000)
Thromb Haemost
, vol.84
, pp. 918
-
-
Gandrille, S.1
Borgel, D.2
Sala, N.3
Espinosa-Parrilla, Y.4
Simmonds, R.5
Rezende, S.6
-
5
-
-
20144374020
-
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study
-
Biguzzi E., Razzari C., Lane D.A., Castaman G., Cappellari A., Bucciarelli P., et al. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. Hum Mutat 25 (2005) 259-269
-
(2005)
Hum Mutat
, vol.25
, pp. 259-269
-
-
Biguzzi, E.1
Razzari, C.2
Lane, D.A.3
Castaman, G.4
Cappellari, A.5
Bucciarelli, P.6
-
6
-
-
0026029146
-
A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families
-
Schmidel D.K., Nelson R.M., Broxson E.H., Comp P.C., Marlar R.A., and Long G.L. A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families. Blood 77 (1991) 551-559
-
(1991)
Blood
, vol.77
, pp. 551-559
-
-
Schmidel, D.K.1
Nelson, R.M.2
Broxson, E.H.3
Comp, P.C.4
Marlar, R.A.5
Long, G.L.6
-
7
-
-
0029933301
-
Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR
-
Holmes Z.R., Bertina R.M., and Reitsma P.H. Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR. Br J Haematol 92 (1996) 986-991
-
(1996)
Br J Haematol
, vol.92
, pp. 986-991
-
-
Holmes, Z.R.1
Bertina, R.M.2
Reitsma, P.H.3
-
8
-
-
13244291342
-
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1
-
Lanke E., Johansson A.M., Hillarp A., Lethagen S., Zöller B., Dahlbäck B., et al. Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1. J Thromb Haemost 2 (2004) 1918-1923
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1918-1923
-
-
Lanke, E.1
Johansson, A.M.2
Hillarp, A.3
Lethagen, S.4
Zöller, B.5
Dahlbäck, B.6
-
9
-
-
27844561552
-
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency
-
Johansson A.M., Hillarp A., Säll T., Zöller B., Dahlbäck B., and Halldén C. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 94 (2005) 951-957
-
(2005)
Thromb Haemost
, vol.94
, pp. 951-957
-
-
Johansson, A.M.1
Hillarp, A.2
Säll, T.3
Zöller, B.4
Dahlbäck, B.5
Halldén, C.6
-
10
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Symp Ser 30 (2002) e57
-
(2002)
Nucleic Acids Symp Ser
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
11
-
-
35048820909
-
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency
-
Yin T., Takeshita S., Sato Y., Sakata T., Shin Y., Honda S., et al. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. Thromb Haemost 98 (2007) 783-789
-
(2007)
Thromb Haemost
, vol.98
, pp. 783-789
-
-
Yin, T.1
Takeshita, S.2
Sato, Y.3
Sakata, T.4
Shin, Y.5
Honda, S.6
-
12
-
-
47649101708
-
Inherited protein S deficiency due to a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification
-
Choung H.S., Kim H.J., Gwak G.Y., Kim S.H., and Kim D.K. Inherited protein S deficiency due to a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification. J Thromb Haemost 6 (2008) 1430-1432
-
(2008)
J Thromb Haemost
, vol.6
, pp. 1430-1432
-
-
Choung, H.S.1
Kim, H.J.2
Gwak, G.Y.3
Kim, S.H.4
Kim, D.K.5
-
13
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease
-
Spec No 1
-
Shaw C.J., and Lupski J.R. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13 (2004) R57-64 Spec No 1
-
(2004)
Hum Mol Genet
, vol.13
-
-
Shaw, C.J.1
Lupski, J.R.2
-
14
-
-
40949086763
-
Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA)
-
Lee S.T., Kim H.J., Kim D.K., Schuit R.J., and Kim S.H. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). J Thromb Haemost 6 (2008) 701-703
-
(2008)
J Thromb Haemost
, vol.6
, pp. 701-703
-
-
Lee, S.T.1
Kim, H.J.2
Kim, D.K.3
Schuit, R.J.4
Kim, S.H.5
-
15
-
-
51249103378
-
Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
-
Kwon M.J., Yoo K.Y., Kim H.J., and Kim S.H. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B. Haemophilia 14 (2008) 1069-1075
-
(2008)
Haemophilia
, vol.14
, pp. 1069-1075
-
-
Kwon, M.J.1
Yoo, K.Y.2
Kim, H.J.3
Kim, S.H.4
-
16
-
-
46749102183
-
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations
-
Ki Ten Kate M., Platteel M., Mulder R., Terpstra P., Nicolaes G.A., Reitsma P.H., et al. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. Hum Mutat 29 (2008) 939-947
-
(2008)
Hum Mutat
, vol.29
, pp. 939-947
-
-
Ki Ten Kate, M.1
Platteel, M.2
Mulder, R.3
Terpstra, P.4
Nicolaes, G.A.5
Reitsma, P.H.6
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