-
2
-
-
0034994094
-
A study of Protein S antigen levels in 3788 healthy volunteers: Influence of age, sex and hormone use, and estimate for prevalence of deficiency state
-
Dykes AC, Walker ID, McMahon AD, et al. A study of Protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol 2001; 113: 636-641.
-
(2001)
Br J Haematol
, vol.113
, pp. 636-641
-
-
Dykes, A.C.1
Walker, I.D.2
McMahon, A.D.3
-
3
-
-
13244291514
-
Prevalence of protein S deficiency in the Japanese general population: The Suita Study
-
Sakata T, Okamoto A, Mannami T, et al. Prevalence of protein S deficiency in the Japanese general population: the Suita Study. J Thromb Haemost 2004; 2: 1012-1013.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1012-1013
-
-
Sakata, T.1
Okamoto, A.2
Mannami, T.3
-
4
-
-
2942580753
-
The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population
-
Beauchamp NJ, Dykes AC, Parikh N, et al. The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population. Br J Haematol 2004; 125: 647-654.
-
(2004)
Br J Haematol
, vol.125
, pp. 647-654
-
-
Beauchamp, N.J.1
Dykes, A.C.2
Parikh, N.3
-
5
-
-
32644444951
-
Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients
-
Kimura R, Honda S, Kawasaki T, et al. Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 2006; 107: 1737-1738.
-
(2006)
Blood
, vol.107
, pp. 1737-1738
-
-
Kimura, R.1
Honda, S.2
Kawasaki, T.3
-
6
-
-
24944549110
-
Protein S and protein C gene mutations in Japanese deep vein thrombosis patients
-
Kinoshita S, Iida H, Inoue S, et al. Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 2005; 38: 908-915.
-
(2005)
Clin Biochem
, vol.38
, pp. 908-915
-
-
Kinoshita, S.1
Iida, H.2
Inoue, S.3
-
7
-
-
33745965353
-
Genetic risk factors for deep vein thrombosis among Japanese: Importance of protein S K196E mutation
-
Miyata T, Kimura R, Kokubo Y, et al. Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation. Int J Hematol 2006; 83: 217-223.
-
(2006)
Int J Hematol
, vol.83
, pp. 217-223
-
-
Miyata, T.1
Kimura, R.2
Kokubo, Y.3
-
8
-
-
33747152200
-
Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers
-
Kimura R, Sakata T, Kokubo Y, et al. Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. J Thromb Haemost 2006; 4: 2010-2013.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 2010-2013
-
-
Kimura, R.1
Sakata, T.2
Kokubo, Y.3
-
9
-
-
0023851558
-
The gene for protein S maps near the centromere of human chromosome 3
-
Watkins PC, Eddy R, Fukushima Y, et al. The gene for protein S maps near the centromere of human chromosome 3. Blood 1988; 71: 238-241.
-
(1988)
Blood
, vol.71
, pp. 238-241
-
-
Watkins, P.C.1
Eddy, R.2
Fukushima, Y.3
-
10
-
-
0025182946
-
Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization
-
Edenbrandt CM, Lundwall A, Wydro R, et al. Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 1990; 29: 7861-7868.
-
(1990)
Biochemistry
, vol.29
, pp. 7861-7868
-
-
Edenbrandt, C.M.1
Lundwall, A.2
Wydro, R.3
-
11
-
-
0025003450
-
Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: Duplication and silencing during primate evolution
-
Ploos van Amstel HK, Reitsma PH, van der Logt CP, et al. Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-7861.
-
(1990)
Biochemistry
, vol.29
, pp. 7853-7861
-
-
Ploos van Amstel, H.K.1
Reitsma, P.H.2
van der Logt, C.P.3
-
13
-
-
0033678567
-
Protein S deficiency: A database of in mutations-summary of the first update
-
Gandrille S, Borgel D, Sala N, et al. Protein S deficiency: a database of in mutations-summary of the first update. Thromb Haemost 2000; 84: 918.
-
(2000)
Thromb Haemost
, vol.84
, pp. 918
-
-
Gandrille, S.1
Borgel, D.2
Sala, N.3
-
14
-
-
13244291342
-
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1
-
Lanke E, Johansson AM, Hillarp A, et al. Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1. J Thromb Haemost 2004; 2: 1918-1923.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1918-1923
-
-
Lanke, E.1
Johansson, A.M.2
Hillarp, A.3
-
15
-
-
0024596613
-
Partial protein S gene deletion in a family with hereditary thrombophilia
-
Ploos van Amstel HK, Huisman MV, Reitsma PH, et al. Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 1989; 73: 479-483.
-
(1989)
Blood
, vol.73
, pp. 479-483
-
-
Ploos van Amstel, H.K.1
Huisman, M.V.2
Reitsma, P.H.3
-
16
-
-
0026029146
-
A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families
-
Schmidel DK, Nelson RM, Broxson EH, Jr., et al. A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families. Blood 1991; 77: 551-559.
-
(1991)
Blood
, vol.77
, pp. 551-559
-
-
Schmidel, D.K.1
Nelson, R.M.2
Broxson Jr., E.H.3
-
17
-
-
0029933301
-
Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR
-
Holmes ZR, Bertina RM, Reitsma PH. 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 1996; 92: 986-991.
-
(1996)
Br J Haematol
, vol.92
, pp. 986-991
-
-
Holmes, Z.R.1
Bertina, R.M.2
Reitsma, P.H.3
-
18
-
-
27844561552
-
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency
-
Johansson AM, Hillarp A, Sall T, et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005; 94: 951-957.
-
(2005)
Thromb Haemost
, vol.94
, pp. 951-957
-
-
Johansson, A.M.1
Hillarp, A.2
Sall, T.3
-
19
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
-
20
-
-
2342578875
-
MLPA and MAPH: New techniques for detection of gene deletions
-
Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004; 23: 413-419.
-
(2004)
Hum Mutat
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
21
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006; 38: 999-1001.
-
(2006)
Nat Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
-
22
-
-
33746137427
-
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
-
Lai KK, Lo IF, Tong TM, et al. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA). Clin Biochem 2006; 39: 367-372.
-
(2006)
Clin Biochem
, vol.39
, pp. 367-372
-
-
Lai KK, L.I.1
Tong, T.M.2
-
23
-
-
33644853109
-
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
-
Rooms L, Reyniers E, Wuyts W, et al. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet 2006; 69: 58-64.
-
(2006)
Clin Genet
, vol.69
, pp. 58-64
-
-
Rooms, L.1
Reyniers, E.2
Wuyts, W.3
-
24
-
-
6944246283
-
Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese
-
Sakata T, Okamoto A, Mannami T, et al. Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Tbromb Haemost 2004; 2: 528-530.
-
(2004)
J Tbromb Haemost
, vol.2
, pp. 528-530
-
-
Sakata, T.1
Okamoto, A.2
Mannami, T.3
-
25
-
-
19944431363
-
Rapid detection of VHL exon deletions using real-time quantitative PCR
-
Hoebeeck J, van der Luijt R, Poppe B, et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005; 85: 24-33.
-
(2005)
Lab Invest
, vol.85
, pp. 24-33
-
-
Hoebeeck, J.1
van der Luijt, R.2
Poppe, B.3
-
26
-
-
0037129827
-
-
Vandesompele J, De Preter K, Pattyn F, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3: Research0034.
-
Vandesompele J, De Preter K, Pattyn F, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3: Research0034.
-
-
-
-
27
-
-
18444387676
-
Verification of 525 coding SNPs in 179 hypertension candidate genes in the Japanese population: Identification of 159 SNPs in 93 genes
-
Okuda T, Fujioka Y, Kamide K, et al. Verification of 525 coding SNPs in 179 hypertension candidate genes in the Japanese population: identification of 159 SNPs in 93 genes. J Hum Genet 2002; 47: 387-394.
-
(2002)
J Hum Genet
, vol.47
, pp. 387-394
-
-
Okuda, T.1
Fujioka, Y.2
Kamide, K.3
-
28
-
-
33846028515
-
Polymorphisms in vitamin K-dependent γ-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population
-
Kimura R, Kokubo Y, Miyashita. K, et al. Polymorphisms in vitamin K-dependent γ-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population. Int J Hematol 2006; 84: 387-397.
-
(2006)
Int J Hematol
, vol.84
, pp. 387-397
-
-
Kimura, R.1
Kokubo, Y.2
Miyashita, K.3
-
29
-
-
0037986824
-
An alternative fast and convenient genotyping method for the screening of angiotensin converting enzyme gene polymorphisms
-
Tanaka C, Kamide K, Takiuchi S, et al. An alternative fast and convenient genotyping method for the screening of angiotensin converting enzyme gene polymorphisms. Hypertens Res 2003; 26: 301-306.
-
(2003)
Hypertens Res
, vol.26
, pp. 301-306
-
-
Tanaka, C.1
Kamide, K.2
Takiuchi, S.3
-
30
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HH, Jr., Antonarakis SE, et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
-
31
-
-
0347533987
-
Characterization of the human protein S gene promoter: A possible role of transcription factors Sp1 and HNF3 in liver
-
Tatewaki H, Tsuda H, Kanaji T, et al. Characterization of the human protein S gene promoter: a possible role of transcription factors Sp1 and HNF3 in liver. Thromb Haemost 2003; 90: 1029-1039.
-
(2003)
Thromb Haemost
, vol.90
, pp. 1029-1039
-
-
Tatewaki, H.1
Tsuda, H.2
Kanaji, T.3
-
32
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18: 74-82.
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
33
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
34
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey JA, Gu Z, Clark RA, et al. Recent segmental duplications in the human genome. Science 2002; 297: 1003-1007.
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
-
35
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004; 13: R57-64.
-
(2004)
Hum Mol Genet
, vol.13
-
-
Shaw, C.J.1
Lupski, J.R.2
|