-
1
-
-
84864772507
-
Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment
-
Aug
-
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012 Aug;223(2):262-268.
-
(2012)
Atherosclerosis
, vol.223
, Issue.2
, pp. 262-268
-
-
Raal, F.J.1
Santos, R.D.2
-
2
-
-
0036860336
-
The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark
-
Nov
-
Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull 2002 Nov;49(4):318-345.
-
(2002)
Dan Med Bull
, vol.49
, Issue.4
, pp. 318-345
-
-
Jensen, H.K.1
-
3
-
-
79956278397
-
Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
National Lipid Association Expert Panel on Familial Hypercholesterolemia. Jun
-
Hopkins PN, Toth PP, Ballantyne CM, Rader DJ; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011 Jun;5(3)(Suppl):S9-S17.
-
(2011)
J Clin Lipidol
, vol.5
, Issue.3 SUPPL.
-
-
Hopkins, P.N.1
Toth, P.P.2
Ballantyne, C.M.3
Rader, D.J.4
-
4
-
-
79958846829
-
Familial hypercholesterolemia: Epidemiology, Neolithic origins and modern geographic distribution
-
Jan-Feb
-
Liyanage KE, Burnett JR, Hooper AJ, van Bockxmeer FM. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci 2011 Jan-Feb;48(1):1-18.
-
(2011)
Crit Rev Clin Lab Sci
, vol.48
, Issue.1
, pp. 1-18
-
-
Liyanage, K.E.1
Burnett, J.R.2
Hooper, A.J.3
van Bockxmeer, F.M.4
-
5
-
-
79956267846
-
Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
-
National Lipid Association Expert Panel on Familial Hypercholesterolemia. Jun
-
Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011 Jun;5(3)(Suppl):S1-S8.
-
(2011)
J Clin Lipidol
, vol.5
, Issue.3 SUPPL.
-
-
Goldberg, A.C.1
Hopkins, P.N.2
Toth, P.P.3
Ballantyne, C.M.4
Rader, D.J.5
Robinson, J.G.6
-
6
-
-
51249096285
-
Familial hypercholesterolaemia: Summary of NICE guidance
-
Guideline Development Group
-
Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095.
-
(2008)
BMJ
, vol.337
-
-
Wierzbicki, A.S.1
Humphries, S.E.2
Minhas, R.3
-
7
-
-
84875963024
-
First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene
-
May
-
Al-Hinai AT, Al-Abri A, Al-Dhuhli H, Al-Waili K, Al-Sabti H, Al-Yaarubi S, et al. First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene. Angiology 2013 May;64(4):287-292.
-
(2013)
Angiology
, vol.64
, Issue.4
, pp. 287-292
-
-
Al-Hinai, A.T.1
Al-Abri, A.2
Al-Dhuhli, H.3
Al-Waili, K.4
Al-Sabti, H.5
Al-Yaarubi, S.6
-
8
-
-
0023239477
-
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
-
Sep
-
Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med 1987 Sep;317(12):734-737.
-
(1987)
N Engl J Med
, vol.317
, Issue.12
, pp. 734-737
-
-
Hobbs, H.H.1
Brown, M.S.2
Russell, D.W.3
Davignon, J.4
Goldstein, J.L.5
-
9
-
-
0024558277
-
Homozygous familial hypercholesterolemia among French Canadians in Québec Province
-
Mar-Apr
-
Moorjani S, Roy M, Gagné C, Davignon J, Brun D, Toussaint M, et al. Homozygous familial hypercholesterolemia among French Canadians in Québec Province. Arteriosclerosis 1989 Mar-Apr;9(2):211-216.
-
(1989)
Arteriosclerosis
, vol.9
, Issue.2
, pp. 211-216
-
-
Moorjani, S.1
Roy, M.2
Gagné, C.3
Davignon, J.4
Brun, D.5
Toussaint, M.6
-
10
-
-
0030871680
-
Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec
-
Jul
-
Vohl MC, Moorjani S, Roy M, Gaudet D, Torres AL, Minnich A, et al. Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec. Clin Genet 1997 Jul;52(1):1-6.
-
(1997)
Clin Genet
, vol.52
, Issue.1
, pp. 1-6
-
-
Vohl, M.C.1
Moorjani, S.2
Roy, M.3
Gaudet, D.4
Torres, A.L.5
Minnich, A.6
-
11
-
-
33645928247
-
Heterozygous familial hypercholesterolemia: An underrecognized cause of early cardiovascular disease
-
Apr
-
Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006 Apr;174(8):1124-1129.
-
(2006)
CMAJ
, vol.174
, Issue.8
, pp. 1124-1129
-
-
Yuan, G.1
Wang, J.2
Hegele, R.A.3
-
12
-
-
0027421158
-
South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population
-
Dec
-
Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, et al. South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population. Hum Genet 1993 Dec;92(6):567-570.
-
(1993)
Hum Genet
, vol.92
, Issue.6
, pp. 567-570
-
-
Defesche, J.C.1
van Diermen, D.E.2
Lansberg, P.J.3
Lamping, R.J.4
Reymer, P.W.5
Hayden, M.R.6
-
13
-
-
0041743167
-
Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
-
Jun
-
Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003 Jun;111(12):1795-1803.
-
(2003)
J Clin Invest
, vol.111
, Issue.12
, pp. 1795-1803
-
-
Rader, D.J.1
Cohen, J.2
Hobbs, H.H.3
-
14
-
-
17444398612
-
Pathogenesis, detection and treatment of Achilles tendon xanthomas
-
Apr
-
Tsouli SG, Kiortsis DN, Argyropoulou MI, Mikhailidis DP, Elisaf MS. Pathogenesis, detection and treatment of Achilles tendon xanthomas. Eur J Clin Invest 2005 Apr;35(4):236-244.
-
(2005)
Eur J Clin Invest
, vol.35
, Issue.4
, pp. 236-244
-
-
Tsouli, S.G.1
Kiortsis, D.N.2
Argyropoulou, M.I.3
Mikhailidis, D.P.4
Elisaf, M.S.5
-
15
-
-
56349147086
-
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia
-
Dec
-
Kolansky DM, Cuchel M, Clark BJ, Paridon S, McCrindle BW, Wiegers SE, et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008 Dec;102(11):1438-1443.
-
(2008)
Am J Cardiol
, vol.102
, Issue.11
, pp. 1438-1443
-
-
Kolansky, D.M.1
Cuchel, M.2
Clark, B.J.3
Paridon, S.4
McCrindle, B.W.5
Wiegers, S.E.6
-
16
-
-
4043093508
-
Current management of severe homozygous hypercholesterolaemias
-
Aug
-
Naoumova RP, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 2004 Aug;15(4):413-422.
-
(2004)
Curr Opin Lipidol
, vol.15
, Issue.4
, pp. 413-422
-
-
Naoumova, R.P.1
Thompson, G.R.2
Soutar, A.K.3
-
17
-
-
52049109169
-
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
-
Spanish Familial Hypercholesterolaemia Group. Oct
-
Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, et al; Spanish Familial Hypercholesterolaemia Group. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008 Oct;200(2):315-321.
-
(2008)
Atherosclerosis
, vol.200
, Issue.2
, pp. 315-321
-
-
Alonso, R.1
Mata, N.2
Castillo, S.3
Fuentes, F.4
Saenz, P.5
Muñiz, O.6
-
18
-
-
9644287995
-
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
-
Dec
-
Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004 Dec;256(6):482-490.
-
(2004)
J Intern Med
, vol.256
, Issue.6
, pp. 482-490
-
-
Jansen, A.C.1
van Aalst-Cohen, E.S.2
Tanck, M.W.3
Trip, M.D.4
Lansberg, P.J.5
Liem, A.H.6
-
19
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group. Oct
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991 Oct;303(6807):893-896.
-
(1991)
BMJ
, vol.303
, Issue.6807
, pp. 893-896
-
-
-
20
-
-
0034856325
-
Medical informatics and health care in Oman
-
Sep-Oct
-
Dhar A. Medical informatics and health care in Oman. J Am Med Inform Assoc 2001 Sep-Oct;8(5):515-517.
-
(2001)
J Am Med Inform Assoc
, vol.8
, Issue.5
, pp. 515-517
-
-
Dhar, A.1
-
21
-
-
84873302752
-
Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure
-
Jan
-
Al-Waili K, Al-Zidi WA, Al-Abri AR, Al-Rasadi K, Al-Sabti HA, Shah K, et al. Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure. Oman Med J 2013 Jan;28(1):48-52.
-
(2013)
Oman Med J
, vol.28
, Issue.1
, pp. 48-52
-
-
Al-Waili, K.1
Al-Zidi, W.A.2
Al-Abri, A.R.3
Al-Rasadi, K.4
Al-Sabti, H.A.5
Shah, K.6
-
22
-
-
4444376916
-
Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
-
Sep
-
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004 Sep;160(5):407-420.
-
(2004)
Am J Epidemiol
, vol.160
, Issue.5
, pp. 407-420
-
-
Austin, M.A.1
Hutter, C.M.2
Zimmern, R.L.3
Humphries, S.E.4
-
23
-
-
79951610731
-
Treatment beliefs and attending follow-up visits in a lipid clinic
-
Feb
-
Elis A, Lishner M, Melamed S. Treatment beliefs and attending follow-up visits in a lipid clinic. Br J Health Psychol 2011 Feb;16(Pt 1):61-71.
-
(2011)
Br J Health Psychol
, vol.16
, Issue.PART 1
, pp. 61-71
-
-
Elis, A.1
Lishner, M.2
Melamed, S.3
-
24
-
-
84857094006
-
A Qualitative Study on the Attitudes and Beliefs towards Help Seeking for Emotional Distress in Omani Women and Omani General Practitioners: Implications for Post-Graduate Training
-
Jul
-
Al-Busaidi ZQ. A Qualitative Study on the Attitudes and Beliefs towards Help Seeking for Emotional Distress in Omani Women and Omani General Practitioners: Implications for Post-Graduate Training. Oman Med J 2010 Jul;25(3):190-198.
-
(2010)
Oman Med J
, vol.25
, Issue.3
, pp. 190-198
-
-
Al-Busaidi, Z.Q.1
-
25
-
-
84876350157
-
The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening
-
Mar
-
Martín J, Cervero A, Mir P, Martinez-Conejero JA, Pellicer A, Simón C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril 2013 Mar;99(4):1054-1061, e3.
-
(2013)
Fertil Steril
, vol.99
, Issue.4
-
-
Martín, J.1
Cervero, A.2
Mir, P.3
Martinez-Conejero, J.A.4
Pellicer, A.5
Simón, C.6
-
26
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Jul
-
Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993 Jul;72(2):171-176.
-
(1993)
Am J Cardiol
, 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
-
27
-
-
11144355236
-
Seasonal variation in serum cholesterol levels: Treatment implications and possible mechanisms
-
Apr
-
Ockene IS, Chiriboga DE, Stanek EJ III, Harmatz MG, Nicolosi R, Saperia G, et al. Seasonal variation in serum cholesterol levels: treatment implications and possible mechanisms. Arch Intern Med 2004 Apr;164(8):863-870.
-
(2004)
Arch Intern Med
, vol.164
, Issue.8
, pp. 863-870
-
-
Ockene, I.S.1
Chiriboga, D.E.2
Stanek III, E.J.3
Harmatz, M.G.4
Nicolosi, R.5
Saperia, G.6
-
28
-
-
1642366131
-
Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands
-
Feb
-
Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche JC, Kastelein JJ, Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004 Feb;4(1):97-104.
-
(2004)
Semin Vasc Med
, vol.4
, Issue.1
, pp. 97-104
-
-
Wonderling, D.1
Umans-Eckenhausen, M.A.2
Marks, D.3
Defesche, J.C.4
Kastelein, J.J.5
Thorogood, M.6
-
29
-
-
0035915685
-
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
-
Jan
-
Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001 Jan;357(9251):165-168.
-
(2001)
Lancet
, vol.357
, Issue.9251
, pp. 165-168
-
-
Umans-Eckenhausen, M.A.1
Defesche, J.C.2
Sijbrands, E.J.3
Scheerder, R.L.4
Kastelein, J.J.5
-
30
-
-
1642364524
-
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a family-based screening program
-
Feb
-
Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004 Feb;4(1):75-85.
-
(2004)
Semin Vasc Med
, 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
-
31
-
-
1642296165
-
Familial hypercholesterolemia in Spain: Case-finding program, clinical and genetic aspects
-
Feb
-
Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004 Feb;4(1):67-74.
-
(2004)
Semin Vasc Med
, vol.4
, Issue.1
, pp. 67-74
-
-
Pocovi, M.1
Civeira, F.2
Alonso, R.3
Mata, P.4
-
32
-
-
78649680360
-
Preventing cardiovascular disease: A review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand
-
Nov
-
Muir LA, George PM, Laurie AD, Reid N, Whitehead L. Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. N Z Med J 2010 Nov;123(1326):97-102.
-
(2010)
N Z Med J
, vol.123
, Issue.1326
, pp. 97-102
-
-
Muir, L.A.1
George, P.M.2
Laurie, A.D.3
Reid, N.4
Whitehead, L.5
-
33
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Sep
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009 Sep;461(7261):272-276.
-
(2009)
Nature
, vol.461
, Issue.7261
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
-
34
-
-
84881533073
-
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
-
Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet 2013;14:83.
-
(2013)
BMC Med Genet
, vol.14
, pp. 83
-
-
Craigen, W.J.1
Graham, B.H.2
Wong, L.J.3
Scaglia, F.4
Lewis, R.A.5
Bonnen, P.E.6
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