-
1
-
-
0000600880
-
Familial Hypercholesterolemia
-
New York: McGraw-Hill Scriver C, Baudet A, Sly W, Valle D
-
Familial Hypercholesterolemia. J Goldstein H Hobbs M Brown, The Metabolic Basis of Inherited Disease New York: McGraw-Hill, Scriver C, Baudet A, Sly W, Valle D, 2001 2863 2913
-
(2001)
The Metabolic Basis of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.1
Hobbs, H.2
Brown, M.3
-
2
-
-
0024163973
-
Clinical features, diagnosis and frequency of familial hypercholesterolemia
-
2484779
-
Clinical features, diagnosis and frequency of familial hypercholesterolemia. AK Khachadurian, Contributions to infusion therapy 1988 23 26 32 2484779
-
(1988)
Contributions to Infusion Therapy
, vol.23
, pp. 26-32
-
-
Khachadurian, A.K.1
-
3
-
-
0001023903
-
The Inheritance of Essential Familial Hypercholesterolemia
-
10.1016/0002-9343(64)90196-2. 14209286
-
The Inheritance of Essential Familial Hypercholesterolemia. AK Khachadurian, The American journal of medicine 1964 37 402 7 10.1016/0002-9343(64)90196-2 14209286
-
(1964)
The American Journal of Medicine
, vol.37
, pp. 402-7
-
-
Khachadurian, A.K.1
-
4
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
A receptor-mediated pathway for cholesterol homeostasis. M Brown J Goldstein, Science 1986 232 34 47 10.1126/science.3513311 3513311 (Pubitemid 16037973)
-
(1986)
Science
, vol.232
, Issue.4746
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
5
-
-
0011723065
-
Familial defective apolipoprotein B-100: Low density lipoproteins with abnormal receptor binding
-
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. TL Innerarity KH Weisgraber KS Arnold,, et al. Proceedings of the National Academy of Sciences of the United States of America 1987 84 6919 23 10.1073/pnas.84.19.6919 3477815 (Pubitemid 18025501)
-
(1987)
Proceedings of the National Academy of Sciences of the United States of America
, vol.84
, Issue.19
, pp. 6919-6923
-
-
Innerarity, T.L.1
Weisgraber, K.H.2
Arnold, K.S.3
Mahley, R.W.4
Krauss, R.M.5
Vega, G.L.6
Grundy, S.M.7
-
6
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
DOI 10.1038/ng1161
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. M Abifadel M Varret JP Rabès,, et al. Nature genetics 2003 34 154 6 10.1038/ng1161 12730697 (Pubitemid 36666925)
-
(2003)
Nature Genetics
, vol.34
, Issue.2
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabes, J.-P.3
Allard, D.4
Ouguerram, K.5
Devillers, M.6
Cruaud, C.7
Benjannet, S.8
Wickham, L.9
Erlich, D.10
Derre, A.11
Villeger, L.12
Farnier, M.13
Beucler, I.14
Bruckert, E.15
Chambaz, J.16
Chanu, B.17
Lecerf, J.-M.18
Luc, G.19
Moulin, P.20
Weissenbach, J.21
Prat, A.22
Krempf, M.23
Junien, C.24
Seidah, N.G.25
Boileau, C.26
more..
-
7
-
-
0035906961
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
-
DOI 10.1126/science.1060458
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. CK Garcia K Wilund M Arca,, et al. Science 2001 292 1394 8 10.1126/science.1060458 11326085 (Pubitemid 32476229)
-
(2001)
Science
, vol.292
, Issue.5520
, pp. 1394-1398
-
-
Garcia, C.K.1
Wilund, K.2
Arca, M.3
Zuliani, G.4
Fellin, R.5
Maioli, M.6
Calandra, S.7
Bertolini, S.8
Cossu, F.9
Grishin, N.10
Barnes, R.11
Cohen, J.C.12
Hobbs, H.H.13
-
8
-
-
0014693152
-
Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states
-
4188273
-
Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. J Slack, Lancet 1969 2 1380 2 4188273
-
(1969)
Lancet
, vol.2
, pp. 1380-2
-
-
Slack, J.1
-
9
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group 1933004
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group, BMJ 1991 303 893 896 1933004
-
(1991)
BMJ
, vol.303
, pp. 893-896
-
-
-
10
-
-
78651439222
-
Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlation
-
10.1016/j.ymgme.2010.11.006. 21145767
-
Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlation. AC Fahed RM Safa FF Haddad,, et al. Molecular genetics and metabolism 2011 102 181 188 10.1016/j.ymgme.2010.11.006 21145767
-
(2011)
Molecular Genetics and Metabolism
, vol.102
, pp. 181-188
-
-
Fahed, A.C.1
Safa, R.M.2
Haddad, F.F.3
-
11
-
-
50849137811
-
PCSK9 and LDL cholesterol: Unraveling the target to design the bullet
-
10.1016/j.tibs.2008.06.005. 18672372
-
PCSK9 and LDL cholesterol: unraveling the target to design the bullet. P Costet M Krempf B Cariou, Trends in Biochemical Sciences 2008 33 426 434 10.1016/j.tibs.2008.06.005 18672372
-
(2008)
Trends in Biochemical Sciences
, vol.33
, pp. 426-434
-
-
Costet, P.1
Krempf, M.2
Cariou, B.3
-
12
-
-
67650092919
-
LXR Regulates Cholesterol Uptake through Idol-dependent Ubiquitination of the LDL Receptor
-
10.1126/science.1168974. 19520913
-
LXR Regulates Cholesterol Uptake through Idol-dependent Ubiquitination of the LDL Receptor. N Zelcer C Hong R Boyadjian,, et al. Science 2009 325 100 104 10.1126/science.1168974 19520913
-
(2009)
Science
, vol.325
, pp. 100-104
-
-
Zelcer, N.1
Hong, C.2
Boyadjian, R.3
-
13
-
-
0022259920
-
The LDL receptor gene: A mosaic of exons shared with different proteins
-
The LDL receptor gene: a mosaic of exons shared with different proteins. TC Südhof JL Goldstein MS Brown DW Russell, Science 1985 228 815 22 10.1126/science.2988123 2988123 (Pubitemid 15021441)
-
(1985)
Science
, vol.228
, Issue.4701
, pp. 815-822
-
-
Sudhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
-
14
-
-
0021215312
-
Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor
-
Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. DW Russell WJ Schneider T Yamamoto,, et al. Cell 1984 37 577 85 10.1016/0092-8674(84)90388-X 6327078 (Pubitemid 14079052)
-
(1984)
Cell
, vol.37
, Issue.2
, pp. 577-585
-
-
Russell, D.W.1
Schneider, W.J.2
Yamamoto, T.3
-
15
-
-
0021067911
-
Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor
-
Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor. RD Cumings S Kornfeld WJ Schneider,, et al. Journal of Biological Chemistry 1983 258 15261 73 6317691 (Pubitemid 14178957)
-
(1983)
Journal of Biological Chemistry
, vol.258
, Issue.24
, pp. 15261-15273
-
-
Cummings, R.D.1
Kornfeld, S.2
Schneider, W.J.3
-
16
-
-
44849108492
-
Update and analysis of the university college London low density lipoprotein receptor familial hypercholesterolemia database
-
DOI 10.1111/j.1469-1809.2008.00436.x
-
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. SEA Leigh AH Foster RA Whittall CS Hubbart SE Humphries, Annals of human genetics 2008 72 485 98 10.1111/j.1469-1809.2008.00436.x 18325082 (Pubitemid 351850090)
-
(2008)
Annals of Human Genetics
, vol.72
, Issue.4
, pp. 485-498
-
-
Leigh, S.E.A.1
Foster, A.H.2
Whittall, R.A.3
Hubbart, C.S.4
Humphries, S.E.5
-
18
-
-
0023140956
-
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
-
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. MA Lehrman WJ Schneider MS Brown,, et al. The Journal of biological chemistry 1987 262 401 10 3025214 (Pubitemid 17000035)
-
(1987)
Journal of Biological Chemistry
, vol.262
, Issue.1
, pp. 401-410
-
-
Lehrman, M.A.1
Schneider, W.J.2
Brown, M.S.3
-
19
-
-
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
-
10.1007/BF00204933. 1959928
-
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. A Oppenheim Y Friedlander EJ Dann,, et al. Human genetics 1991 88 75 84 10.1007/BF00204933 1959928
-
(1991)
Human Genetics
, vol.88
, pp. 75-84
-
-
Oppenheim, A.1
Friedlander, Y.2
Dann, E.J.3
-
21
-
-
77950458946
-
Moderate phenotypic expression of familial hypercholesterolemia in Tunisia
-
10.1016/j.cca.2010.02.008
-
Moderate phenotypic expression of familial hypercholesterolemia in Tunisia. A Jelassi A Slimani I Jguirim,, et al. Clinical Chimica Acta 2010 411 735 738 10.1016/j.cca.2010.02.008
-
(2010)
Clinical Chimica Acta
, vol.411
, pp. 735-738
-
-
Jelassi, A.1
Slimani, A.2
Jguirim, I.3
-
22
-
-
34247367092
-
Genetic susceptibility to heart disease in Canada: Lessons from patients with familial hypercholesterolemia
-
DOI 10.1139/G06-147
-
Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia. RA Hegele, Genome/National Research Council Canada 2006 49 1343 50 (Pubitemid 46640322)
-
(2006)
Genome
, vol.49
, Issue.11
, pp. 1343-1350
-
-
Hegele, R.A.1
-
23
-
-
0024558892
-
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
-
DOI 10.1073/pnas.86.2.587
-
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. LF Soria EH Ludwig HR Clarke,, et al. Proceedings of the National Academy of Sciences of the United States of America 1989 86 587 91 10.1073/pnas.86.2.587 2563166 (Pubitemid 19037786)
-
(1989)
Proceedings of the National Academy of Sciences of the United States of America
, vol.86
, Issue.2
, pp. 587-591
-
-
Soria, L.F.1
Ludwig, E.H.2
Clarke, H.R.G.3
Vega, G.L.4
Grundy, S.M.5
McCarthy, B.J.6
-
24
-
-
0027768735
-
Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia
-
Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. NB Myant, Atherosclerosis 1993 104 1 18 10.1016/0021-9150(93)90171-P 8141833 (Pubitemid 24035628)
-
(1993)
Atherosclerosis
, vol.104
, Issue.1-2
, pp. 1-18
-
-
Myant, N.B.1
-
25
-
-
0031873319
-
Identification and haplotype analysis of apolipoprotein B-100 Arg3500 - >Trp mutation in hyperlipidemic Chinese
-
9702952
-
Identification and haplotype analysis of apolipoprotein B-100 Arg3500 - >Trp mutation in hyperlipidemic Chinese. DY Tai JP Pan GJ Lee-Chen, Clinical chemistry 1998 44 1659 65 9702952
-
(1998)
Clinical Chemistry
, vol.44
, pp. 1659-65
-
-
Tai, D.Y.1
Pan, J.P.2
Lee-Chen, G.J.3
-
26
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
10.1038/ng1509. 15654334
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. J Cohen A Pertsemlidis IK Kotowski,, et al. Nature genetics 2005 37 161 5 10.1038/ng1509 15654334
-
(2005)
Nature Genetics
, vol.37
, pp. 161-5
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
-
27
-
-
63749121093
-
Mutations and Polymorphisms in the Proprotein Convertase Subtilin Kexin 9 (PCSK9) Gene in Cholesterol Metabolism and Disease
-
10.1002/humu.20882. 19191301
-
Mutations and Polymorphisms in the Proprotein Convertase Subtilin Kexin 9 (PCSK9) Gene in Cholesterol Metabolism and Disease. M Abifadel JP Rabes M Devillers,, et al. Human Mutation 2009 30 520 529 10.1002/humu.20882 19191301
-
(2009)
Human Mutation
, vol.30
, pp. 520-529
-
-
Abifadel, M.1
Rabes, J.P.2
Devillers, M.3
-
28
-
-
61449444418
-
PCSK9 as a therapeutic target for dyslipidemia
-
10.1517/14728220802600715. 19063703
-
PCSK9 as a therapeutic target for dyslipidemia. NG Seidah, Expert opinion on therapeutic targets 2009 13 19 28 10.1517/14728220802600715 19063703
-
(2009)
Expert Opinion on Therapeutic Targets
, vol.13
, pp. 19-28
-
-
Seidah, N.G.1
-
29
-
-
77953535433
-
PCSK9 as a therapeutic target in atherosclerosis
-
10.1007/s11883-010-0099-2. 20425252
-
PCSK9 as a therapeutic target in atherosclerosis. AJ Marian, Current Atherosclerosis Reports 2010 12 151 4 10.1007/s11883-010-0099-2 20425252
-
(2010)
Current Atherosclerosis Reports
, vol.12
, pp. 151-4
-
-
Marian, A.J.1
-
30
-
-
78651350647
-
PCSK9: An emerging target for treatment of hypercholesterolemia
-
Epub 2011 Jan 5. 10.1517/14728222.2011.547480. 21204732
-
PCSK9: an emerging target for treatment of hypercholesterolemia. CJ Duff NM Hooper, Expert opinion on therapeutic targets 2011 15 2 157 68 Epub 2011 Jan 5 10.1517/14728222.2011.547480 21204732
-
(2011)
Expert Opinion on Therapeutic Targets
, vol.15
, Issue.2
, pp. 157-68
-
-
Duff, C.J.1
Hooper, N.M.2
-
31
-
-
0035095514
-
Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families
-
DOI 10.1086/318795
-
Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. ER Eden RP Naoumova JJ Burden,, et al. American Journal of Human Genetics 2001 68 653 60 10.1086/318795 11179013 (Pubitemid 32202760)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.3
, pp. 653-660
-
-
Eden, E.R.1
Naoumova, R.P.2
Burden, J.J.3
McCarthy, M.I.4
Soutar, A.K.5
-
32
-
-
0242660344
-
Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia
-
DOI 10.1161/01.ATV.0000094410.66558.9A
-
Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia. AK Soutar RP Naoumova LM Traub, Arteriosclerosis, thrombosis, and vascular biology 2003 23 1963 70 10.1161/01.ATV.0000094410.66558.9A 12958046 (Pubitemid 37433187)
-
(2003)
Arteriosclerosis, Thrombosis, and Vascular Biology
, vol.23
, Issue.11
, pp. 1963-1970
-
-
Soutar, A.K.1
Naoumova, R.P.2
Traub, L.M.3
-
33
-
-
19944430011
-
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia
-
DOI 10.1007/s00439-004-1192-9
-
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. S Canizales-Quinteros CA Aguilar-Salinas A Huertas-Vasquez,, et al. Human Genetics 2005 116 114 20 10.1007/s00439-004-1192- 9 15599766 (Pubitemid 40057922)
-
(2005)
Human Genetics
, vol.116
, Issue.1-2
, pp. 114-120
-
-
Canizales-Quinteros, S.1
Aguilar-Salinas, C.A.2
Huertas-Vazquez, A.3
Ordonez-Sanchez, M.L.4
Rodriguez-Torres, M.5
Venturas-Gallegos, J.L.6
Riba, L.7
Ramirez-Jimenez, S.8
Salas-Montiel, R.9
Medina-Palacios, G.10
Robles-Osorio, L.11
Miliar-Garcia, A.12
Rosales-Leon, L.13
Ruiz-Ordaz, B.H.14
Zentella-Dehesa, A.15
Ferre-D'Amare, A.16
Gomez-Perez, F.J.17
Tusie-Luna, Ma.T.18
-
34
-
-
77649198885
-
A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia
-
20124734
-
A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. K Harada Y Miyamoto H Morisaki,, et al. Journal of atherosclerosis and thrombosis 2010 17 131 40 20124734
-
(2010)
Journal of Atherosclerosis and Thrombosis
, vol.17
, pp. 131-40
-
-
Harada, K.1
Miyamoto, Y.2
Morisaki, H.3
-
35
-
-
35449001188
-
ApoB-100 R3500Q mutation in the Lebanese population: Prevalence and historical review of the literature
-
DOI 10.1007/s11033-006-9041-7
-
ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature. AS Sabbagh RT Daher ZK Otrock,, et al. Molecular biology reports 2007 34 267 70 10.1007/s11033-006-9041-7 17160438 (Pubitemid 47624288)
-
(2007)
Molecular Biology Reports
, vol.34
, Issue.4
, pp. 267-270
-
-
Sabbagh, A.S.1
Daher, R.T.2
Otrock, Z.K.3
Khalek, R.N.A.4
Zaatari, G.S.5
Mahfouz, R.A.R.6
-
36
-
-
33748088504
-
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison
-
DOI 10.1016/j.atherosclerosis.2005.11.016, PII S0021915005007690
-
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. L Pisciotta C Priore Olivia GM Pes,, et al. Atherosclerosis 2006 188 398 405 10.1016/j.atherosclerosis.2005. 11.016 16343504 (Pubitemid 44301145)
-
(2006)
Atherosclerosis
, vol.188
, Issue.2
, pp. 398-405
-
-
Pisciotta, L.1
Oliva, C.P.2
Pes, G.M.3
Di Scala, L.4
Bellocchio, A.5
Fresa, R.6
Cantafora, A.7
Arca, M.8
Calandra, S.9
Bertolini, S.10
-
37
-
-
0038748336
-
A Q136Stop mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism
-
DOI 10.1046/j.1365-2796.2003.01139.x
-
A Q136Stop Mutation in the ARH gene causing autosomal recessive hypercholesterolaemia with severely delayed LDL catabolism. UJ Tietge J Genschel HH Schmidt, Journal of Internal Medicine 2003 253 582 583 10.1046/j.1365-2796. 2003.01139.x 12702036 (Pubitemid 36543298)
-
(2003)
Journal of Internal Medicine
, vol.253
, Issue.5
, pp. 582-583
-
-
Tietge, U.J.F.1
Genschel, J.2
Schmidt, H.H.-J.3
-
38
-
-
2342454322
-
Autosomal recessive hypercholesterolaemia: Long-term follow up and response to treatment
-
DOI 10.1016/j.atherosclerosis.2004.01.020, PII S0021915004000784
-
Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment. RP Naoumova C Neuwirth P Lee,, et al. Atherosclerosis 2004 174 165 72 10.1016/j.atherosclerosis.2004.01.020 15135266 (Pubitemid 38595453)
-
(2004)
Atherosclerosis
, vol.174
, Issue.1
, pp. 165-172
-
-
Naoumova, R.P.1
Neuwirth, C.2
Lee, P.3
Miller, J.P.4
Taylor, K.G.5
Soutar, A.K.6
-
39
-
-
67649652056
-
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene
-
10.1002/humu.21002. 19319977
-
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. M Abifadel JP Rabès S Jambart,, et al. Human Mutation 2009 30 682 91 10.1002/humu.21002 19319977
-
(2009)
Human Mutation
, vol.30
, pp. 5682-91
-
-
Abifadel, M.1
Rabès, J.P.2
Jambart, S.3
-
40
-
-
29944443017
-
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
-
10.1002/humu.9383. 16211558
-
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. D Allard S Amsellem M Abifadel,, et al. Human Mutation 2005 26 497 10.1002/humu.9383 16211558
-
(2005)
Human Mutation
, vol.26
, pp. 497
-
-
Allard, D.1
Amsellem, S.2
Abifadel, M.3
-
41
-
-
33646435074
-
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
-
10.1016/j.atherosclerosis.2005.08.015. 16183066
-
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. L Pisciotta C Priore Olivia AB Cefalu,, et al. Atherosclerosis 2006 186 433 40 10.1016/j.atherosclerosis.2005.08.015 16183066
-
(2006)
Atherosclerosis
, vol.186
, pp. 433-40
-
-
Pisciotta, L.1
Priore Olivia, C.2
Cefalu, A.B.3
-
42
-
-
13944252816
-
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
-
DOI 10.1194/jlr.D400030-JLR200
-
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Wang MR Ban RA Hegele, Journal of Lipid Research 2005 46 366 72 15576851 (Pubitemid 40271101)
-
(2005)
Journal of Lipid Research
, vol.46
, Issue.2
, pp. 366-372
-
-
Wang, J.1
Ban, M.R.2
Hegele, R.A.3
-
43
-
-
2342578875
-
MLPA and MAPH: New Techniques for Detection of Gene Deletions
-
DOI 10.1002/humu.20035
-
MLPA and MAPH: new techniques for detection of gene deletions. LN Sellner GR Taylor, Human Mutation 2004 23 413 9 10.1002/humu.20035 15108271 (Pubitemid 38569212)
-
(2004)
Human Mutation
, vol.23
, Issue.5
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
44
-
-
0036220393
-
Phenotypic variability in familial hypercholesterolaemia: An update
-
DOI 10.1097/00041433-200204000-00008
-
Phenotypic variability in familial hypercholesterolaemia: an update. AC Jansen S van Wissen JC Defesche,, et al. Current Opinion in Lipidology 2002 13 165 71 10.1097/00041433-200204000-00008 11891419 (Pubitemid 34280768)
-
(2002)
Current Opinion in Lipidology
, vol.13
, Issue.2
, pp. 165-171
-
-
Jansen, A.C.M.1
Van Wissen, S.2
Defesche, J.C.3
Kastelein, J.J.P.4
-
45
-
-
0035864633
-
Fh-Souassi: A founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families
-
DOI 10.1016/S0021-9150(00)00572-4, PII S0021915000005724
-
Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families. MN Slimane S Lestavel X Sun,, et al. Atherosclerosis 2001 154 557 65 10.1016/S0021-9150(00) 00572-4 11257256 (Pubitemid 32232152)
-
(2001)
Atherosclerosis
, vol.154
, Issue.3
, pp. 557-565
-
-
Slimane, M.N.1
Lestavel, S.2
Sun, X.-M.3
Maatouk, F.4
Soutar, A.K.5
Ben Farhat, M.H.6
Clavey, V.7
Benlian, P.8
Hammami, M.9
-
46
-
-
26844558116
-
Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background
-
DOI 10.1515/CCLM.2005.134
-
Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background. DM Choumerianou GVZ Dedoussis, Clinical chemistry and laboratory medicine: CCLM/FESCC 2005 43 793 801 10.1515/CCLM.2005.134 (Pubitemid 41461152)
-
(2005)
Clinical Chemistry and Laboratory Medicine
, vol.43
, Issue.8
, pp. 793-801
-
-
Choumerianou, D.M.1
Dedoussis, G.V.Z.2
-
47
-
-
35348908391
-
Apolipoprotein polymorphisms and familial hypercholesterolemia
-
DOI 10.2217/14622416.8.9.1179
-
Apolipoprotein polymorphisms and familial hypercholesterolemia. GVZ Dedoussis, Pharmacogenomics 2007 8 1179 89 10.2217/14622416.8.9.1179 17924833 (Pubitemid 47578227)
-
(2007)
Pharmacogenomics
, vol.8
, Issue.9
, pp. 1179-1189
-
-
Dedoussis, G.V.Z.1
-
48
-
-
4444328790
-
Familial hypercholesterolemia and coronary heart disease: A HuGE association review
-
DOI 10.1093/aje/kwh237
-
Familial hypercholesterolemia and coronary heart disease: a HuGE association review. MA Austin CM Hutter RL Zimmern S Humphries, American Journal of Epidemiology 2004 160 421 9 10.1093/aje/kwh237 15321838 (Pubitemid 39166974)
-
(2004)
American Journal of Epidemiology
, vol.160
, Issue.5
, pp. 421-429
-
-
Austin, M.A.1
Hutter, C.M.2
Zimmern, R.L.3
Humpries, S.E.4
-
49
-
-
9644287995
-
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
-
DOI 10.1111/j.1365-2796.2004.01405.x
-
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. AC Jansen ES van Aalst-Cohen MW Tanck,, et al. Journal of Internal Medicine 2004 256 482 90 10.1111/j.1365-2796.2004.01405.x 15554949 (Pubitemid 39577582)
-
(2004)
Journal of Internal Medicine
, vol.256
, Issue.6
, pp. 482-490
-
-
Jansen, A.C.M.1
Van Aalst-Cohen, E.S.2
Tanck, M.W.3
Trip, M.D.4
Lansberg, P.J.5
Liem, A.H.6
Roeters Van Lennep, H.W.O.7
Sijbrands, E.J.G.8
Kastelein, J.J.P.9
-
50
-
-
79953706881
-
Commentary: Lipoprotein (a) and atherosclerosis
-
Epub 2011 Feb 17. 10.1093/ije/dyr015. 21330345
-
Commentary: Lipoprotein (a) and atherosclerosis. A Clarke, International Journal of Epidemiology 2011 40 2 478 9 Epub 2011 Feb 17 10.1093/ije/dyr015 21330345
-
(2011)
International Journal of Epidemiology
, vol.40
, Issue.2
, pp. 478-9
-
-
Clarke, A.1
-
51
-
-
10744233618
-
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
-
DOI 10.1016/j.atherosclerosis.2003.11.010
-
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. F Civeira, Atherosclerosis 2004 173 55 68 10.1016/j.atherosclerosis.2003.11.010 15177124 (Pubitemid 38224196)
-
(2004)
Atherosclerosis
, vol.173
, Issue.1
, pp. 55-68
-
-
Civeira, F.1
Pocovi, M.2
Alegria, E.3
Alonso, R.4
Carmena, R.5
Casasnovas, J.A.6
Defesche, J.C.7
Jensen, H.K.8
Hopkins, P.N.9
Illingworth, D.R.10
Luengo, E.11
Masana, L.12
Mata, P.13
Perez-Jimenez, F.14
Schaefer, E.J.15
Thompson, G.R.16
-
52
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group, BMJ (Clinical research ed.) 1991 303 893 6
-
(1991)
BMJ (Clinical Research Ed.)
, vol.303
, pp. 893-6
-
-
-
53
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
DOI 10.1016/0002-9149(93)90155-6
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. RR Williams SC Hunt MC Schumacher, American Journal of Cardiology 1993 72 171 6 10.1016/0002-9149(93)90155-6 8328379 (Pubitemid 23205873)
-
(1993)
American Journal of Cardiology
, vol.72
, Issue.2
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, M.C.3
Hegele, R.A.4
Leppert, M.F.5
Ludwig, E.H.6
Hopkins, P.N.7
-
54
-
-
18044401323
-
Screening for familial hypercholesterolaemia. Early identification and treatment of patients is important
-
10.1136/bmj.322.7293.1062. 11349663
-
Screening for familial hypercholesterolaemia. Early identification and treatment of patients is important. P Nicholls I Young K Lyttle,, et al. BMJ 2001 322 1062 10.1136/bmj.322.7293.1062 11349663
-
(2001)
BMJ
, vol.322
, pp. 1062
-
-
Nicholls, P.1
Young, I.2
Lyttle, K.3
-
55
-
-
0034011554
-
Cholesterol screening in children and adolescents
-
Cholesterol screening in children and adolescents. TB Newman AM Garber, Pediatrics 2000 105 637 638 10.1542/peds.105.3.637 10699121 (Pubitemid 30129683)
-
(2000)
Pediatrics
, vol.105
, Issue.3
, pp. 637-638
-
-
Newman, T.B.1
Garber, A.M.2
-
57
-
-
77954956771
-
Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia
-
10.1097/MOL.0b013e32833c14e2. 20613514
-
Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. BN Datta IFW McDowell A Rees, Current Opinion in Lipidology 2010 21 366 371 10.1097/MOL.0b013e32833c14e2 20613514
-
(2010)
Current Opinion in Lipidology
, vol.21
, pp. 366-371
-
-
Datta, B.N.1
McDowell, I.F.W.2
Rees, A.3
-
58
-
-
9444281943
-
Cascade genetic screening for familial hypercholesterolemia
-
DOI 10.1111/j.1399-0004.2004.00320.x
-
Cascade genetic screening for familial hypercholesterolemia. TP Leren, Clinical Genetics 2004 66 483 487 10.1111/j.1399-0004.2004.00320.x 15521974 (Pubitemid 39562009)
-
(2004)
Clinical Genetics
, vol.66
, Issue.6
, pp. 483-487
-
-
Leren, T.P.1
-
59
-
-
36348954968
-
No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study
-
DOI 10.1016/j.clinbiochem.2007.09.012, PII S0009912007003633
-
No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: a descriptive study. M Nybo K Brusgaard AB Hansen, Clinical biochemistry 2007 40 1347 52 10.1016/j.clinbiochem.2007.09.012 17961529 (Pubitemid 350153642)
-
(2007)
Clinical Biochemistry
, vol.40
, Issue.18
, pp. 1347-1352
-
-
Nybo, M.1
Brusgaard, K.2
Hansen, A.B.3
-
60
-
-
77957736659
-
Molecular diagnosis of familial hypercholesterolemia: An important tool for cardiovascular risk stratification
-
Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification. AC Alves AM Medeiros V Francisco,, et al. Portugese Journal of Cardiology 2010 29 907 21
-
(2010)
Portugese Journal of Cardiology
, vol.29
, pp. 907-21
-
-
Alves, A.C.1
Medeiros, A.M.2
Francisco, V.3
-
62
-
-
0032556362
-
Molecular epidemiology of familial hypercholesterolaemia
-
Molecular epidemiology of familial hypercholesterolaemia. JC Defesche JJ Kastelein, Lancet 1998 352 1643 4 9853432 (Pubitemid 28526118)
-
(1998)
Lancet
, vol.352
, Issue.9141
, pp. 1643-1644
-
-
Defesche, J.C.1
Kastelein, J.J.P.2
-
63
-
-
34748870952
-
Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis
-
10.1136/bmj.39300.616076.55. 17855284
-
Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. DS Wald JP Bestwick NJ Wald, BMJ 2007 335 599 10.1136/bmj.39300.616076.55 17855284
-
(2007)
BMJ
, vol.335
, pp. 599
-
-
Wald, D.S.1
Bestwick, J.P.2
Wald, N.J.3
-
64
-
-
0035915685
-
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
-
DOI 10.1016/S0140-6736(00)03587-X
-
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. MA Umans-Eckenhausen JC Defesche EJ Sijrbrands,, et al. Lancet 2001 357 165 8 10.1016/S0140-6736(00)03587-X 11213091 (Pubitemid 32108086)
-
(2001)
Lancet
, vol.357
, Issue.9251
, pp. 165-168
-
-
Umans-Eckenhausen, M.A.W.1
Defesche, J.C.2
Sijbrands, E.J.G.3
Scheerder, R.L.J.M.4
Kastelein, J.J.P.5
-
65
-
-
1642366131
-
Cost-Effectiveness Analysis of the Genetic Screening Program for Familial Hypercholesterolemia in the Netherlands
-
DOI 10.1055/s-2004-822992
-
Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. D Wonderling MA Umans-Eckenhausen D Marks,, et al. Seminars in vascular medicine 2004 4 97 104 15199439 (Pubitemid 38393297)
-
(2004)
Seminars in Vascular Medicine
, vol.4
, Issue.1
, pp. 97-104
-
-
Wonderling, D.1
Umans-Eckenhausen, M.A.W.2
Marks, D.3
Defesche, J.C.4
Kastelein, J.J.P.5
Thorogood, M.6
-
66
-
-
77957880779
-
Defining the challenges of FH Screening for familial hypercholesterolemia
-
10.1016/j.jacl.2010.08.022. 21122674
-
Defining the challenges of FH Screening for familial hypercholesterolemia. JC Defesche, Journal of Clinical Lipidology 2010 4 338 341 10.1016/j.jacl.2010.08.022 21122674
-
(2010)
Journal of Clinical Lipidology
, vol.4
, pp. 338-341
-
-
Defesche, J.C.1
-
67
-
-
1642364524
-
Application of Molecular Genetics for Diagnosing Familial Hypercholesterolemia in Norway: Results from a Family-Based Screening Program
-
DOI 10.1055/s-2004-822989
-
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. TP Leren T Manshaus U Skovholt,, et al. Seminars in vascular medicine 2004 4 75 85 15199436 (Pubitemid 38393294)
-
(2004)
Seminars in Vascular Medicine
, vol.4
, Issue.1
, pp. 75-85
-
-
Leren, T.P.1
Manshaus, T.2
Skovholt, U.3
Skodje, T.4
Nossen, I.E.5
Teie, C.6
Sorensen, S.7
Bakken, K.S.8
-
68
-
-
38349058652
-
Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening
-
10.1159/000111637. 18196915
-
Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. TP Leren TH Finborud TE Manshaus,, et al. Community Genetics 2008 11 26 35 10.1159/000111637 18196915
-
(2008)
Community Genetics
, vol.11
, pp. 26-35
-
-
Leren, T.P.1
Finborud, T.H.2
Manshaus, T.E.3
-
69
-
-
1642296165
-
Familial Hypercholesterolemia in Spain: Case-Finding Program, Clinical and Genetic Aspects
-
DOI 10.1055/s-2004-822988
-
Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. M Pocovi F Civeira R Alonso,, et al. Seminars in Vascular Medicine 2004 4 67 74 15199435 (Pubitemid 38393293)
-
(2004)
Seminars in Vascular Medicine
, vol.4
, Issue.1
, pp. 67-74
-
-
Pocovi, M.1
Civeira, F.2
Alonso, R.3
Mata, P.4
-
70
-
-
54549111350
-
Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia
-
10.1016/j.amjcard.2008.06.056. 18940289
-
Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia. F Civeira E Ros E Jarauta,, et al. The American Journal of Cardiology 2008 102 1187 93 10.1016/j.amjcard.2008.06.056 18940289
-
(2008)
The American Journal of Cardiology
, vol.102
, pp. 1187-93
-
-
Civeira, F.1
Ros, E.2
Jarauta, E.3
-
72
-
-
78649680360
-
Preventing cardiovascular disease: A review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand
-
21326404
-
Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. LA Muir PM George AD Laurie,, et al. New Zealand Medical Journal 2010 123 97 102 21326404
-
(2010)
New Zealand Medical Journal
, vol.123
, pp. 97-102
-
-
Muir, L.A.1
George, P.M.2
Laurie, A.D.3
-
74
-
-
77953949143
-
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
-
20236128
-
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. A Taylor D Wang K Patel,, et al. Clinical Genetics 2010 77 572 580 20236128
-
(2010)
Clinical Genetics
, vol.77
, pp. 572-580
-
-
Taylor, A.1
Wang, D.2
Patel, K.3
-
75
-
-
33745624604
-
Molecular genetic testing for familial hypercholesterolemia in the Netherlands: A stepwise screening strategy enhances the mutation detection rate
-
DOI 10.1089/gte.2006.10.77
-
Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate. MP Lombardi EJ Redeker DH van Gent,, et al. Genetic Testing 2006 10 77 84 10.1089/gte.2006.10.77 16792510 (Pubitemid 43993292)
-
(2006)
Genetic Testing
, vol.10
, Issue.2
, pp. 77-84
-
-
Lombardi, M.P.1
Redeker, E.J.W.2
Van Gent, D.H.M.3
Smeele, K.L.4
Weerdesteijn, R.5
Mannens, M.M.A.M.6
-
76
-
-
33644796185
-
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia
-
DOI 10.1111/j.1399-0004.2006.00585.x
-
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. K Brusgaard P Jordan H Hansen,, et al. Clinical Genetics 2006 69 277 283 10.1111/j.1399-0004.2006.00585.x 16542394 (Pubitemid 43349012)
-
(2006)
Clinical Genetics
, vol.69
, Issue.3
, pp. 277-283
-
-
Brusgaard, K.1
Jordan, P.2
Hansen, H.3
Hansen, A.B.4
Horder, M.5
-
77
-
-
17044427538
-
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
-
10.1016/j.atherosclerosis.2004.12.001. 15823288
-
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. D Damgaard ML Larsen PH Nissen,, et al. Atherosclerosis 2005 180 155 160 10.1016/j.atherosclerosis.2004.12.001 15823288
-
(2005)
Atherosclerosis
, vol.180
, pp. 155-160
-
-
Damgaard, D.1
Larsen, M.L.2
Nissen, P.H.3
-
78
-
-
61849108194
-
Evaluation of high-resolution melting analysis for screening the LDL receptor gene
-
10.1016/j.clinbiochem.2008.11.015. 19118540
-
Evaluation of high-resolution melting analysis for screening the LDL receptor gene. AD Laurie PM George, Clinical Biochemistry 2009 42 528 535 10.1016/j.clinbiochem.2008.11.015 19118540
-
(2009)
Clinical Biochemistry
, vol.42
, pp. 528-535
-
-
Laurie, A.D.1
George, P.M.2
-
79
-
-
8844280077
-
Genetic screening of patients with familial hypercholesterolaemia (FH): A New Zealand perspective
-
DOI 10.1016/j.atherosclerosissup.2004.09.001, PII S156756880400073X
-
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. AD Laurie RS Scott PM George, Atherosclerosis Supplements 2004 5 13 15 15556094 (Pubitemid 39535761)
-
(2004)
Atherosclerosis Supplements
, vol.5
, Issue.5
, pp. 13-15
-
-
Laurie, A.D.1
Scott, R.S.2
George, P.M.3
-
80
-
-
0037326907
-
Systematic family screening for familial hypercholesterolemia in Iceland
-
DOI 10.1161/01.ATV.0000051874.51341.8C
-
Systematic Family Screening for Familial Hypercholesterolemia in Iceland. B Thorsson G Sigurdsson V Gudnason, Arteriosclerosis Thrombosis and Vascular Biology 2003 23 335 338 10.1161/01.ATV.0000051874.51341.8C (Pubitemid 36231949)
-
(2003)
Arteriosclerosis, Thrombosis, and Vascular Biology
, vol.23
, Issue.2
, pp. 335-338
-
-
Thorsson, B.1
Sigurdsson, G.2
Gudnason, V.3
-
81
-
-
22544433489
-
Implementation of cascade testing for the detection of familial hypercholesterolaemia
-
Implementation of cascade testing for the detection of familial hypercholesterolaemia. SG Hadfield SE Humphries, Current Opinion in Lipidology 2005 16 428 433 10.1097/01.mol.0000174152.76554.d6 15990592 (Pubitemid 41017627)
-
(2005)
Current Opinion in Lipidology
, vol.16
, Issue.4
, pp. 428-433
-
-
Hadfield, S.G.1
Humphries, S.E.2
|