-
2
-
-
0001023903
-
The inheritance of essential familial hypercholesterolemia
-
Khachadurian A.K. The inheritance of essential familial hypercholesterolemia. The American Journal of Medicine 1964, 37:402-407.
-
(1964)
The American Journal of Medicine
, vol.37
, pp. 402-407
-
-
Khachadurian, A.K.1
-
4
-
-
0023140956
-
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
-
Lehrman M.A., Schneider W.J., Brown M.S., et al. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. The Journal of Biological Chemistry 1987, 262:401-410.
-
(1987)
The Journal of Biological Chemistry
, vol.262
, pp. 401-410
-
-
Lehrman, M.A.1
Schneider, W.J.2
Brown, M.S.3
-
5
-
-
0024578914
-
The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community
-
Steyn K., Weight M.J., Dando B.R., Christopher K.J., Rossouw J.E. The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. Journal of Medical Genetics 1989, 26:32-36.
-
(1989)
Journal of Medical Genetics
, vol.26
, pp. 32-36
-
-
Steyn, K.1
Weight, M.J.2
Dando, B.R.3
Christopher, K.J.4
Rossouw, J.E.5
-
6
-
-
0023239477
-
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
-
Hobbs H., Brown M., Russell D., Davignon J., Goldstein J. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. The New England Journal of Medicine 1987, 317:734-737.
-
(1987)
The New England Journal of Medicine
, vol.317
, pp. 734-737
-
-
Hobbs, H.1
Brown, M.2
Russell, D.3
Davignon, J.4
Goldstein, J.5
-
7
-
-
0015546668
-
Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients
-
Khachadurian A.K., Uthman S.M. Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutrition and Metabolism 1973, 15:132-140.
-
(1973)
Nutrition and Metabolism
, vol.15
, pp. 132-140
-
-
Khachadurian, A.K.1
Uthman, S.M.2
-
8
-
-
0021742599
-
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA
-
Yamamoto T., Davis C.G., Brown M.S., et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984, 39:27-38.
-
(1984)
Cell
, vol.39
, pp. 27-38
-
-
Yamamoto, T.1
Davis, C.G.2
Brown, M.S.3
-
9
-
-
0022259920
-
The LDL receptor gene: a mosaic of exons shared with different proteins
-
Südhof T.C., Goldstein J.L., Brown M.S., Russell D.W. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985, 228:815-822.
-
(1985)
Science
, vol.228
, pp. 815-822
-
-
Südhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
-
10
-
-
0021932361
-
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
-
Lehrman M.A., Goldstein J.L., Brown M.S., Russell D.W., Schneider W.J. Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell 1985, 41:735-743.
-
(1985)
Cell
, vol.41
, pp. 735-743
-
-
Lehrman, M.A.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
Schneider, W.J.5
-
11
-
-
0021918948
-
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
-
Lehrman M.A., Schneide W., Südhof T.C., et al. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 1985, 227:140-146.
-
(1985)
Science
, vol.227
, pp. 140-146
-
-
Lehrman, M.A.1
Schneide, W.2
Südhof, T.C.3
-
12
-
-
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. Annals of Human Genetics 2008, 72:485-498.
-
(2008)
Annals of Human Genetics
, 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
-
13
-
-
78651421326
-
-
University College London Low Density Lipoprotein Familial Hypercholesterolemia Database.
-
University College London Low Density Lipoprotein Familial Hypercholesterolemia Database (). http://www.ucl.ac.uk/ldlr.
-
-
-
-
14
-
-
0026058845
-
Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor
-
Oppenheim A., Friedlander Y., Dann E.J., et al. Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor. Human Genetics 1991, 88:75-84.
-
(1991)
Human Genetics
, vol.88
, pp. 75-84
-
-
Oppenheim, A.1
Friedlander, Y.2
Dann, E.J.3
-
15
-
-
0026439760
-
High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia
-
Figueiredo M.S., Dos Santos J.E., Alberto F.L., Zago M.A. High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia. Journal of Medical Genetics 1992, 29:813-815.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 813-815
-
-
Figueiredo, M.S.1
Dos Santos, J.E.2
Alberto, F.L.3
Zago, M.A.4
-
16
-
-
0033144184
-
The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil
-
Alberto F.L., Figueiredo M.S., Zago M.A., Araújo A.G., Dos-Santos J.E. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil. Brazilian Journal of Medical and Biological Research 1999, 32:739-745.
-
(1999)
Brazilian Journal of Medical and Biological Research
, vol.32
, pp. 739-745
-
-
Alberto, F.L.1
Figueiredo, M.S.2
Zago, M.A.3
Araújo, A.G.4
Dos-Santos, J.E.5
-
17
-
-
0030836649
-
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
-
Day I., Whittall R., O'Dell S., et al. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. Human Mutation 1997, 10:116-127.
-
(1997)
Human Mutation
, vol.10
, pp. 116-127
-
-
Day, I.1
Whittall, R.2
O'Dell, S.3
-
18
-
-
0036841169
-
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia
-
Bodamer O.A., Bercovich D., Schlabach M., et al. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clinical Chemistry 2002, 48:1913-1918.
-
(2002)
Clinical Chemistry
, vol.48
, pp. 1913-1918
-
-
Bodamer, O.A.1
Bercovich, D.2
Schlabach, M.3
-
19
-
-
67649652056
-
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
-
Abifadel M., Rabès J., Jambart S., et al. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Human Mutation 2009, 30:E682-E691.
-
(2009)
Human Mutation
, vol.30
-
-
Abifadel, M.1
Rabès, J.2
Jambart, S.3
-
21
-
-
0022981186
-
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia
-
Vega G.L., Grundy S.M. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. The Journal of Clinical Investigation 1986, 78:1410-1414.
-
(1986)
The Journal of Clinical Investigation
, vol.78
, pp. 1410-1414
-
-
Vega, G.L.1
Grundy, S.M.2
-
22
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel M., Varret M., Rabès J., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics 2003, 34:154-156.
-
(2003)
Nature Genetics
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabès, J.3
-
23
-
-
0035906961
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
-
Garcia C.K., Wilund K., Arca M., et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001, 292:1394-1398.
-
(2001)
Science
, vol.292
, pp. 1394-1398
-
-
Garcia, C.K.1
Wilund, K.2
Arca, M.3
-
25
-
-
69249209983
-
Consanguinity in Lebanon: prevalence, distribution and determinants
-
Barbour B., Salameh P. Consanguinity in Lebanon: prevalence, distribution and determinants. Journal of Biosocial Science 2009, 41:505-517.
-
(2009)
Journal of Biosocial Science
, vol.41
, pp. 505-517
-
-
Barbour, B.1
Salameh, P.2
-
27
-
-
70450285407
-
Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis
-
Oosterveer D.M., Versmissen J., Yazdanpanah M., Hamza T.H., Sijbrands E.J. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. Atherosclerosis 2009, 207:311-317.
-
(2009)
Atherosclerosis
, vol.207
, pp. 311-317
-
-
Oosterveer, D.M.1
Versmissen, J.2
Yazdanpanah, M.3
Hamza, T.H.4
Sijbrands, E.J.5
-
28
-
-
35449001188
-
ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature
-
Sabbagh A.S., Daher R.T., Otrock Z.K., et al. ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature. Molecular Biology Reports 2007, 34:267-270.
-
(2007)
Molecular Biology Reports
, vol.34
, pp. 267-270
-
-
Sabbagh, A.S.1
Daher, R.T.2
Otrock, Z.K.3
-
29
-
-
77952684113
-
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia
-
Huijgen R., Kindt I., Fouchier S.W., et al. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Human Mutation 2010, 31:752-760.
-
(2010)
Human Mutation
, vol.31
, pp. 752-760
-
-
Huijgen, R.1
Kindt, I.2
Fouchier, S.W.3
-
31
-
-
6044219926
-
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR
-
Mozas P., Castillo S., Tejedor D., et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Human Mutation 2004, 24:187.
-
(2004)
Human Mutation
, vol.24
, pp. 187
-
-
Mozas, P.1
Castillo, S.2
Tejedor, D.3
|