-
1
-
-
84893647246
-
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
-
Watts, G. F. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 171, 309-325 (2014).
-
(2014)
Int J Cardiol
, vol.171
, pp. 309-325
-
-
Watts, G.F.1
-
2
-
-
44949145140
-
Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing
-
Starr, B. et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 46, 791-803 (2008).
-
(2008)
Clin Chem Lab Med
, vol.46
, pp. 791-803
-
-
Starr, B.1
-
3
-
-
84890461947
-
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society
-
Nordestgaard, B. G. et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 34, 3478-3490a (2013).
-
(2013)
Eur Heart J
, vol.34
, pp. 3478-3490a
-
-
Nordestgaard, B.G.1
-
4
-
-
84903278021
-
Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population
-
Shi, Z. et al. Familial hypercholesterolemia in China: prevalence and evidence of underdetection and undertreatment in a community population. Int J Cardiol 174, 834-836 (2014).
-
(2014)
Int J Cardiol
, vol.174
, pp. 834-836
-
-
Shi, Z.1
-
5
-
-
79953750862
-
Research progression of LDLR mutations in Chinese Familial hypercholesterolemia
-
Dai, Y. F., Sun, L. Y., Zhang, X. B. & Wang, L. Y. [Research progression of LDLR mutations in Chinese Familial hypercholesterolemia]. Yi Chuan 33, 1-8 (2011).
-
(2011)
Yi Chuan
, vol.33
, pp. 1-8
-
-
Dai, Y.F.1
Sun, L.Y.2
Zhang, X.B.3
Wang, L.Y.4
-
6
-
-
0344897543
-
Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia
-
Cao, S. et al. Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia. Chin Med J (Engl) 116, 1535-1538 (2003).
-
(2003)
Chin Med J (Engl)
, vol.116
, pp. 1535-1538
-
-
Cao, S.1
-
7
-
-
67349260690
-
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients
-
Wang, L. et al. Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients. Nutr Metab Cardiovasc Dis 19, 391-400 (2009).
-
(2009)
Nutr Metab Cardiovasc Dis
, vol.19
, pp. 391-400
-
-
Wang, L.1
-
8
-
-
80054114089
-
Genome-wide linkage scan of a pedigree with familial hypercholesterolemia suggests susceptibility loci on chromosomes 3q25-26 and 21q22
-
Wang, X. et al. Genome-wide linkage scan of a pedigree with familial hypercholesterolemia suggests susceptibility loci on chromosomes 3q25-26 and 21q22. PLoS One 6, e24838 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Wang, X.1
-
9
-
-
84899913069
-
Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia
-
Wang, H. et al. Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia. PLoS One 9, e92703 (2014).
-
(2014)
PLoS One
, vol.9
-
-
Wang, H.1
-
10
-
-
84899564433
-
Use of targeted exome sequencing in genetic diagnosis of chinese familial hypercholesterolemia
-
Wu, W. F., Sun, L. Y., Pan, X. D., Yang, S. W. & Wang, L. Y. Use of targeted exome sequencing in genetic diagnosis of chinese familial hypercholesterolemia. PLoS ONE 9, (2014).
-
(2014)
PLoS ONE
, vol.9
-
-
Wu, W.F.1
Sun, L.Y.2
Pan, X.D.3
Yang, S.W.4
Wang, L.Y.5
-
12
-
-
0022368325
-
Homozygous familial hypercholesterolemic patients in China
-
Cai, H. J., Fan, L. M. & Huang, M. G. Homozygous familial hypercholesterolemic patients in China. Atherosclerosis 57, 303-312 (1985).
-
(1985)
Atherosclerosis
, vol.57
, pp. 303-312
-
-
Cai, H.J.1
Fan, L.M.2
Huang, M.G.3
-
13
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs, H. H., Brown, M. S. & Goldstein, J. L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1, 445-466 (1992).
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
14
-
-
0028177458
-
Familial hypercholesterolemia in China: Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype
-
Sun, X. M. et al. Familial hypercholesterolemia in China: Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. Arteriosclerosis and Thrombosis 14, 85-94 (1994).
-
(1994)
Arteriosclerosis and Thrombosis
, vol.14
, pp. 85-94
-
-
Sun, X.M.1
-
15
-
-
84865076877
-
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: Update and pathological assessment
-
Usifo, E. et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 76, 387-401 (2012).
-
(2012)
Ann Hum Genet
, vol.76
, pp. 387-401
-
-
Usifo, E.1
-
16
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nat Methods 7, 248-249 (2010).
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
17
-
-
44849108492
-
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database
-
Leigh, S. E., Foster, A. H., Whittall, R. A., Hubbart, C. S. & Humphries, S. E. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 72, 485-498 (2008).
-
(2008)
Ann Hum Genet
, vol.72
, pp. 485-498
-
-
Leigh, S.E.1
Foster, A.H.2
Whittall, R.A.3
Hubbart, C.S.4
Humphries, S.E.5
-
18
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7, 575-576 (2010).
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
19
-
-
10744229723
-
Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese
-
Chang, J. H. et al. Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese. J Lipid Res 44, 1850-1858 (2003).
-
(2003)
J Lipid Res
, vol.44
, pp. 1850-1858
-
-
Chang, J.H.1
-
20
-
-
26444578961
-
Familial hypercholesterolemia in St-Petersburg: The known and novel mutations found in the low density lipoprotein receptor gene in Russia
-
Zakharova, F. M. et al. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med Genet 6, 6 (2005).
-
(2005)
BMC Med Genet
, vol.6
, pp. 6
-
-
Zakharova, F.M.1
-
21
-
-
33644819514
-
Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia
-
Punzalan, F. E. et al. Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. J Atheroscler Thromb 12, 276-283 (2005).
-
(2005)
J Atheroscler Thromb
, vol.12
, pp. 276-283
-
-
Punzalan, F.E.1
-
22
-
-
0031688024
-
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients
-
Mak, Y. T. et al. Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. Arterioscler Thromb Vasc Biol 18, 1600-1605 (1998).
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 1600-1605
-
-
Mak, Y.T.1
-
23
-
-
0035686835
-
The molecular basis of familial hypercholesterolemia in The Netherlands
-
Fouchier, S. W., Defesche, J. C., Umans-Eckenhausen, M. W. & Kastelein, J. P. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet 109, 602-615 (2001).
-
(2001)
Hum Genet
, vol.109
, pp. 602-615
-
-
Fouchier, S.W.1
Defesche, J.C.2
Umans-Eckenhausen, M.W.3
Kastelein, J.P.4
-
24
-
-
84858157188
-
Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China
-
Chiou, K. R. & Charng, M. J. Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. Gene 498, 100-106 (2012).
-
(2012)
Gene
, vol.498
, pp. 100-106
-
-
Chiou, K.R.1
Charng, M.J.2
-
25
-
-
0033843686
-
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia
-
Khoo, K. L. et al. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet 58, 98-105 (2000).
-
(2000)
Clin Genet
, vol.58
, pp. 98-105
-
-
Khoo, K.L.1
-
26
-
-
0024446716
-
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
-
Leitersdorf, E., Van der Westhuyzen, D. R., Coetzee, G. A. & Hobbs, H. H. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest 84, 954-961 (1989).
-
(1989)
J Clin Invest
, vol.84
, pp. 954-961
-
-
Leitersdorf, E.1
Van Der Westhuyzen, D.R.2
Coetzee, G.A.3
Hobbs, H.H.4
-
27
-
-
0031838215
-
Phenotypic variation in heterozygous familial hypercholesterolemia: A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada
-
Pimstone, S. N. et al. Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arterioscler Thromb Vasc Biol 18, 309-315 (1998).
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 309-315
-
-
Pimstone, S.N.1
-
28
-
-
84948159088
-
Analysis of LDL receptor function and gene mutations in familial homozgous hypercholesterolemia (Chinese)
-
Xu, Y. J. et al. Analysis of LDL receptor function and gene mutations in familial homozgous hypercholesterolemia (Chinese). Lin Chuang Xin Xue Guan Bing Za Zhi 25, 350-354 (2008).
-
(2008)
Lin Chuang Xin Xue Guan Bing Za Zhi
, vol.25
, pp. 350-354
-
-
Xu, Y.J.1
-
29
-
-
84948140914
-
Screening of Familial Defective Apolipoprotein B-100 (Chinese)
-
Huang, J. J., Zhou, X., Chen, F. & Ha, D. W. Screening of Familial Defective Apolipoprotein B-100 (Chinese). Zhong Guo Xun Huan Za Zhi, 30-32 (1998).
-
(1998)
Zhong Guo Xun Huan Za Zhi
, pp. 30-32
-
-
Huang, J.J.1
Zhou, X.2
Chen, F.3
Ha, D.W.4
-
30
-
-
77952371546
-
A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family
-
Lin, J. et al. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family. Chin Med J (Engl) 123, 1133-1138 (2010).
-
(2010)
Chin Med J (Engl)
, vol.123
, pp. 1133-1138
-
-
Lin, J.1
-
31
-
-
77953584677
-
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia
-
Chiou, K. R. & Charng, M. J. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. Am J Cardiol 105, 1752-1758 (2010).
-
(2010)
Am J Cardiol
, vol.105
, pp. 1752-1758
-
-
Chiou, K.R.1
Charng, M.J.2
-
32
-
-
84880919889
-
Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases
-
Hu, M. et al. Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases. International Journal of Cardiology 167, 762-767 (2013).
-
(2013)
International Journal of Cardiology
, vol.167
, pp. 762-767
-
-
Hu, M.1
-
33
-
-
4644299623
-
Clinical features of familial hypercholesterolemia in Japan in a database from 1996-1998 by the research committee of the ministry of health, labour and welfare of Japan
-
Bujo, H. et al. Clinical features of familial hypercholesterolemia in Japan in a database from 1996-1998 by the research committee of the ministry of health, labour and welfare of Japan. J Atheroscler Thromb 11, 146-151 (2004).
-
(2004)
J Atheroscler Thromb
, vol.11
, pp. 146-151
-
-
Bujo, H.1
-
34
-
-
84875857872
-
Phenotype-genotype analyses of clinically diagnosed Malaysian familial hypercholestrolemic patients
-
Al-Khateeb, A., Al-Talib, H., Mohamed, M. S., Yusof, Z. & Zilfalil, B. A. Phenotype-genotype analyses of clinically diagnosed Malaysian familial hypercholestrolemic patients. Adv Clin Exp Med 22, 57-67 (2013).
-
(2013)
Adv Clin Exp Med
, vol.22
, pp. 57-67
-
-
Al-Khateeb, A.1
Al-Talib, H.2
Mohamed, M.S.3
Yusof, Z.4
Zilfalil, B.A.5
-
35
-
-
84920748229
-
Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience
-
Bell, D. A. et al. Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience. Atherosclerosis 239, 93-100 (2015).
-
(2015)
Atherosclerosis
, vol.239
, pp. 93-100
-
-
Bell, D.A.1
-
36
-
-
84893873856
-
Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers
-
Besseling, J. et al. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers. Atherosclerosis 233, 219-223 (2014).
-
(2014)
Atherosclerosis
, vol.233
, pp. 219-223
-
-
Besseling, J.1
-
37
-
-
33344474328
-
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing
-
Humphries, S. E. et al. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl) 84, 203-214 (2006).
-
(2006)
J Mol Med (Berl)
, vol.84
, pp. 203-214
-
-
Humphries, S.E.1
-
38
-
-
52049109169
-
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
-
Alonso, R. et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 200, 315-321 (2008).
-
(2008)
Atherosclerosis
, vol.200
, pp. 315-321
-
-
Alonso, R.1
-
40
-
-
84948172790
-
Use long chain polymerase chain reaction to research restriction fragment length polymorphism of low density lipoprotein receptor gene (Chinese)
-
Zhou, T. H., Bahring, S. & Schuster, H. Use long chain polymerase chain reaction to research restriction fragment length polymorphism of low density lipoprotein receptor gene (Chinese) Zhong Hua Yi Xue Za Zhi 76, 465-467 (1996).
-
(1996)
Zhong Hua Yi Xue Za Zhi
, vol.76
, pp. 465-467
-
-
Zhou, T.H.1
Bahring, S.2
Schuster, H.3
-
41
-
-
0034097146
-
The application of polymerase chain reaction-single strain conf ormat ion polymorphism in the pedigree analysis of familial hypercholerolemia patients
-
Zhu, D. M. et al. The application of polymerase chain reaction-single strain conf ormat ion polymorphism in the pedigree analysis of familial hypercholerolemia patients. Zhong Hua Yi Xue Yi Chuan Xue Za Zhi 17, 108-111 (2000).
-
(2000)
Zhong Hua Yi Xue Yi Chuan Xue Za Zhi
, vol.17
, pp. 108-111
-
-
Zhu, D.M.1
-
42
-
-
0035066559
-
A Chinese homozygote of familial hypercholesterolemia: Identification of a novel C263R mutation in the LDL receptor gene
-
Wang, D. et al. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. J Hum Genet 46, 152-154 (2001).
-
(2001)
J Hum Genet
, vol.46
, pp. 152-154
-
-
Wang, D.1
-
43
-
-
84948171192
-
Analysis of temperature-modulated high pe rformance liquid chromatography for detecting mutations of LDLR gene in a familial hypercholesterolemia pedigree (Chineses)
-
Wang, L. Y. et al. Analysis of temperature-modulated high pe rformance liquid chromatography for detecting mutations of LDLR gene in a familial hypercholesterolemia pedigree (Chineses). Zhong Hua Jian Yan Yi Xue Za Zhi 28, 359-363 (2005).
-
(2005)
Zhong Hua Jian Yan Yi Xue Za Zhi
, vol.28
, pp. 359-363
-
-
Wang, L.Y.1
-
44
-
-
84935882635
-
Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing
-
Sun, L. Y. et al. Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing. Sci Rep 5, 11380 (2015).
-
(2015)
Sci Rep
, vol.5
-
-
Sun, L.Y.1
-
45
-
-
84948126652
-
Research of Gene Mutation of Proprotein Convertase Subtilisin /Kexin 9 in Hypercholesterolemia
-
Song, G. Y. et al. Research of Gene Mutation of Proprotein Convertase Subtilisin /Kexin 9 in Hypercholesterolemia. Zhong Guo Dong Mai Ying Hua Za Zhi, 731-735 (2012).
-
(2012)
Zhong Guo Dong Mai Ying Hua Za Zhi
, pp. 731-735
-
-
Song, G.Y.1
-
46
-
-
62649160423
-
Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia
-
Jelassi, A. et al. Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia. Atherosclerosis 203, 449-453 (2009).
-
(2009)
Atherosclerosis
, vol.203
, pp. 449-453
-
-
Jelassi, A.1
-
47
-
-
0033977771
-
Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country
-
Schmidt, H. & Kostner, G. M. Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. Atherosclerosis 148, 431-432 (2000).
-
(2000)
Atherosclerosis
, vol.148
, pp. 431-432
-
-
Schmidt, H.1
Kostner, G.M.2
-
48
-
-
84876167878
-
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
-
Talmud, P. J. et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 381, 1293-1301 (2013).
-
(2013)
Lancet
, vol.381
, pp. 1293-1301
-
-
Talmud, P.J.1
-
49
-
-
18444404884
-
The UMD-LDLR database: Additions to the software and 490 new entries to the database
-
Villeger, L. et al. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 20, 81-87 (2002).
-
(2002)
Hum Mutat
, vol.20
, pp. 81-87
-
-
Villeger, L.1
-
50
-
-
0021742599
-
The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA
-
Yamamoto, T. et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39, 27-38 (1984).
-
(1984)
Cell
, vol.39
, pp. 27-38
-
-
Yamamoto, T.1
|