-
1
-
-
0000600880
-
Familial Hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Goldstein JL, Hobbs H, Brown MS. Familial Hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:2863-913.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.2
Brown, M.S.3
-
2
-
-
0032539940
-
Cholesterol reduction yields clinical benefit: Impact on statins trials
-
Gould AL, Rossouw JE, Santanello NC, Heyse JF, Furberg CD. Cholesterol reduction yields clinical benefit: impact on statins trials. Circulation 1998;97:946-52.
-
(1998)
Circulation
, vol.97
, pp. 946-952
-
-
Gould, A.L.1
Rossouw, J.E.2
Santanello, N.C.3
Heyse, J.F.4
Furberg, C.D.5
-
3
-
-
18444404884
-
The UMD-LDLR database: Additions to the software and 490 new entries to the database
-
Villeger L, Abifadel M, Allard D, Rabes JP, Thiart R, Kotze MJ, et al. The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat 2002;20:81-7.
-
(2002)
Hum Mutat
, vol.20
, pp. 81-87
-
-
Villeger, L.1
Abifadel, M.2
Allard, D.3
Rabes, J.P.4
Thiart, R.5
Kotze, M.J.6
-
4
-
-
8844228187
-
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia
-
Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atheroscler Suppl 2004;5:1-5.
-
(2004)
Atheroscler Suppl
, vol.5
, pp. 1-5
-
-
Muller, P.Y.1
Miserez, A.R.2
-
6
-
-
0024558892
-
Association between a specific apoB mutation and familial defective apoB100
-
Soria LF, Ludwig EH, Clarke HRG, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apoB mutation and familial defective apoB100. Proc Natl Acad Sci U S A 1989;86:587-91.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 587-591
-
-
Soria, L.F.1
Ludwig, E.H.2
Hrg, C.3
Vega, G.L.4
Grundy, S.M.5
McCarthy, B.J.6
-
7
-
-
0029090626
-
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia
-
Gaffney D, Reid JM, Cameron IM, Vass K, Caslake M, Sheperd J, et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia. Arterioscler Thromb Vasc Biol 1995;15:1025-9.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1025-1029
-
-
Gaffney, D.1
Reid, J.M.2
Cameron, I.M.3
Vass, K.4
Caslake, M.5
Sheperd, J.6
-
8
-
-
0028898785
-
Mutation screening of the codon 3500of the apoB gene by denaturing gradient-gel electrophoresis
-
Nissen H, Hansen PS, Faergeman O, Horder M. Mutation screening of the codon 3500of the apoB gene by denaturing gradient-gel electrophoresis. Clin Chem 1995;41:419-23.
-
(1995)
Clin Chem
, vol.41
, pp. 419-423
-
-
Nissen, H.1
Hansen, P.S.2
Faergeman, O.3
Horder, M.4
-
9
-
-
17144363236
-
Proprotein convertase subtilisin kexin 9: The third locus implicated in autosomal dominant hypercholesterolemia
-
Maxwell KN, Breslow JL. Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia. Curr Opin Lipidol 2005;16:167-72.
-
(2005)
Curr Opin Lipidol
, vol.16
, pp. 167-172
-
-
Maxwell, K.N.1
Breslow, J.L.2
-
10
-
-
8644267517
-
Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population
-
Ejarque I, Real JT, Chaves FJ, Blesa S, Gonzalez V, Milian E et al. Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population. Med Clin 2004;123:456-9.
-
(2004)
Med Clin
, vol.123
, pp. 456-459
-
-
Ejarque, I.1
Real, J.T.2
Chaves, F.J.3
Blesa, S.4
Gonzalez, V.5
Milian, E.6
-
11
-
-
11844264852
-
Familial defective apolipoprotein B versus familial hypercholesterolemia: An assessment of risk
-
Fouchier SW, Defesche JC, Kastelein JJ, Sijbrands EJ. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk. Semin Vasc Med 2004;4:259-64.
-
(2004)
Semin Vasc Med
, vol.4
, pp. 259-264
-
-
Fouchier, S.W.1
Defesche, J.C.2
Kastelein, J.J.3
Sijbrands, E.J.4
-
12
-
-
0035956620
-
Influence of FH Valencia 1 and 2 mutations of the LDL receptor gene on the response to simvastatin in subjects with molecularly defined heterozygous familial hypercholesterolemia in Spain
-
Real JT, Chaves FJ, Civera M, Garcia-Garcia AB, Ascaso JF, Armengod ME, et al. Influence of FH Valencia 1 and 2 mutations of the LDL receptor gene on the response to simvastatin in subjects with molecularly defined heterozygous familial hypercholesterolemia in Spain. Med Clin 2001;116:81-5.
-
(2001)
Med Clin
, vol.116
, pp. 81-85
-
-
Real, J.T.1
Chaves, F.J.2
Civera, M.3
Garcia-Garcia, A.B.4
Ascaso, J.F.5
Armengod, M.E.6
-
13
-
-
0035055956
-
Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population
-
Chaves FJ, Real JT, Garcia-Garcia AB, Puig O, Ordovas JM, Ascaso JF, et al. Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population. Eur J Clin Invest 2001;31:309-17.
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 309-317
-
-
Chaves, F.J.1
Real, J.T.2
Garcia-Garcia, A.B.3
Puig, O.4
Ordovas, J.M.5
Ascaso, J.F.6
-
14
-
-
0034751795
-
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: Influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol
-
Chaves FJ, Real JT, Garcia-Garcia AB, Civera M, Armengod ME, Ascaso JF, et al. Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. J Clin Endocrinol Metab 2001;86:4926-32.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4926-4932
-
-
Chaves, F.J.1
Real, J.T.2
Garcia-Garcia, A.B.3
Civera, M.4
Armengod, M.E.5
Ascaso, J.F.6
-
15
-
-
26844558116
-
Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background
-
Choumerianou DM, Dedoussis GV. Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background. Clin Chem Lab Med 2005;43:793-801.
-
(2005)
Clin Chem Lab Med
, vol.43
, pp. 793-801
-
-
Choumerianou, D.M.1
Dedoussis, G.V.2
-
16
-
-
0035514175
-
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis
-
Garcia-Garcia AB, Real JT, Puig O, Cebolla E, Marin-Garcia P, Martinez Ferrandis JI, et al. Molecular genetics of familial hypercholesterolemia in Spain: ten novel LDLR mutations and population analysis. Hum Mutat 2001;18:458-9.
-
(2001)
Hum Mutat
, vol.18
, pp. 458-459
-
-
Garcia-Garcia, A.B.1
Real, J.T.2
Puig, O.3
Cebolla, E.4
Marin-Garcia, P.5
Martinez Ferrandis, J.I.6
-
17
-
-
6044219926
-
Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR
-
Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat 2004:24-187.
-
(2004)
Hum Mutat
, pp. 24-187
-
-
Mozas, P.1
Castillo, S.2
Tejedor, D.3
Reyes, G.4
Alonso, R.5
Franco, M.6
-
18
-
-
1642296165
-
Familial hypercholesterolemia in Spain: Case-finding program, clinical and genetic aspects
-
Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004;4:67-74.
-
(2004)
Semin Vasc Med
, vol.4
, pp. 67-74
-
-
Pocovi, M.1
Civeira, F.2
Alonso, R.3
Mata, P.4
-
19
-
-
23444435523
-
Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia
-
Tejedor D, Castillo S, Mozas P, Jimenez E, Lopez M, Tejedor MT, et al., Spanish FH Group. Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem 2005;51:1137-44.
-
(2005)
Clin Chem
, vol.51
, pp. 1137-1144
-
-
Tejedor, D.1
Castillo, S.2
Mozas, P.3
Jimenez, E.4
Lopez, M.5
Tejedor, M.T.6
-
20
-
-
0024346890
-
Use of silica gel polymer for DNA extraction with organic solvents
-
Tilzer L, Thomas S, Moreno RF. Use of silica gel polymer for DNA extraction with organic solvents. Anal Biochem 1989;183:13-5.
-
(1989)
Anal Biochem
, vol.183
, pp. 13-15
-
-
Tilzer, L.1
Thomas, S.2
Moreno, R.F.3
-
21
-
-
0034054303
-
Universal primer quantitative fluorescent multiplex (UPQFM) PCR: A method to detect major and minor rearrangements of the low density lipoprotein receptor gene
-
Heath KE, Day IN, Humphries SE. Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. J Med Genet 2000;37:272-80.
-
(2000)
J Med Genet
, vol.37
, pp. 272-280
-
-
Heath, K.E.1
Day, I.N.2
Humphries, S.E.3
-
22
-
-
33646932802
-
Semiquantitative multiplex PCR: A useful tool for large rearrangement screening and characterization
-
in press
-
Garcia-Garcia AB, Blesa S, Martinez-Hervas S, Mansego ML, Gonzalez-Albert V, Ascaso JF, et al. Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization. Hum Mutat 2006; (in press).
-
(2006)
Hum Mutat
-
-
Garcia-Garcia, A.B.1
Blesa, S.2
Martinez-Hervas, S.3
Mansego, M.L.4
Gonzalez-Albert, V.5
Ascaso, J.F.6
-
23
-
-
0033959557
-
Expression of an LDL receptor allele with two different mutations (E256K and I402T)
-
Ekstrom U, Abrahamson M, Sveger T, Sun XM, Soutar AK, Nilsson-Ehle P. Expression of an LDL receptor allele with two different mutations (E256K and I402T). Mol Pathol 2000;53:31-6.
-
(2000)
Mol Pathol
, vol.53
, pp. 31-36
-
-
Ekstrom, U.1
Abrahamson, M.2
Sveger, T.3
Sun, X.M.4
Soutar, A.K.5
Nilsson-Ehle, P.6
-
24
-
-
0036725318
-
The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
-
Whittall RA, Matheus S, Cranston T, Miller GJ, Humphries SE. The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels. J Med Genet 2002;39:e57.
-
(2002)
J Med Genet
, vol.39
-
-
Whittall, R.A.1
Matheus, S.2
Cranston, T.3
Miller, G.J.4
Humphries, S.E.5
|