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1
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4444376916
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Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
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Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004; 160:407-420. Reviews the clinical diagnostic criteria used for familial hypercholesterolaemia and the genes involved. Familial hypercholesterolaemia mutations identified, and their prevalence in different populations, are cited. Includes a comprehensive reference list.
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(2004)
Am J Epidemiol
, vol.160
, pp. 407-420
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Austin, M.A.1
Hutter, C.M.2
Zimmern, R.L.3
Humphries, S.E.4
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2
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0034662322
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Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study
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Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000; 321:148.
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BMJ
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Neil, H.A.1
Hammond, T.2
Huxley, R.3
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4
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0034676774
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Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia
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Bhatnagar D, Morgan J, Siddiq S, et al. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. BMJ 2000; 321:1497-1500.
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BMJ
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Bhatnagar, D.1
Morgan, J.2
Siddiq, S.3
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5
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0035915685
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Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
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Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001; 357:165-168.
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Lancet
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Umans-Eckenhausen, M.A.1
Defesche, J.C.2
Sijbrands, E.J.3
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6
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0036607353
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Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia
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Marks D, Wonderling D, Thorogood M, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002; 324:1303.
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BMJ
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Marks, D.1
Wonderling, D.2
Thorogood, M.3
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7
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1642366131
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Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in the Netherlands
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Wonderling D, Umans-Eckenhausen MA, Marks D, et al. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004; 4:97-104. Data from the nationwide screening programme in the Netherlands demonstrate the cost-effectiveness of genetic screening in terms of cost per life year gained. Life expectancy data for familial hypercholesterolaemia patients pre and post the statin era were taken from the Simon Broome register.
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(2004)
Semin Vasc Med
, vol.4
, pp. 97-104
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Wonderling, D.1
Umans-Eckenhausen, M.A.2
Marks, D.3
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8
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0035744687
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How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views
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van Maarle MC, Stouthard ME, Marang-van de Mheen PJ, et al. How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views. Commun Genet 2001; 4:244-252.
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Commun Genet
, vol.4
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Van Maarle, M.C.1
Stouthard, M.E.2
Marang-Van De Mheen, P.J.3
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9
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1642364524
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Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a family-based screening program
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Leren TP, Manshaus T, Skovholt U, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004; 4:75-85. The results of the Norwegian family tracing programme, 2000-2003, are reported. Genetic counsellors and general practitioners implement the programme in a low-density population. Fifty-three percent of affected, adult relatives were on lipid-lowering therapy before screening; this increased to 81% following diagnosis of familial hypercholesterolaemia.
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(2004)
Semin Vasc Med
, vol.4
, pp. 75-85
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Leren, T.P.1
Manshaus, T.2
Skovholt, U.3
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10
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0037541585
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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
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Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
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Atherosclerosis
, vol.168
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Marks, D.1
Thorogood, M.2
Neil, H.A.3
Humphries, S.E.4
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11
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0025944056
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Risk of fatal coronary heart disease in familial hypercholesterolaemia
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Scientific Steering Committee on behalf of the Simon Broome Register. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991; 303:893-896.
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(1991)
BMJ
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12
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0027301629
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Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
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Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993; 72:171-176.
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Am J Cardiol
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Williams, R.R.1
Hunt, S.C.2
Schumacher, M.C.3
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13
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17044427538
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The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
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Damgaard D, Larsen ML, Nissen PH, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005; 180:155-160. The ability of three sets of clinical criteria (Simon Broome, MEDPED and Dutch Lipid Clinic Network) to predict the molecular analysis of 408 familial hypercholesterolaemia patients was evaluated. At high specificities (definite familial hypercholesterolaemia) the tests have poor sensitivity and vice versa.
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(2005)
Atherosclerosis
, vol.180
, pp. 155-160
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Damgaard, D.1
Larsen, M.L.2
Nissen, P.H.3
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14
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1642296165
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Familial hypercholesterolemia in Spain: Case-finding program, clinical and genetic aspects
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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.
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(2004)
Semin Vasc Med
, vol.4
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Pocovi, M.1
Civeira, F.2
Alonso, R.3
Mata, P.4
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15
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8844287571
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Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis
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Sozen M, Whittall R, Humphries SE. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis. Atheroscler Suppl 2004; 5:7-11.
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Atheroscler Suppl
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Sozen, M.1
Whittall, R.2
Humphries, S.E.3
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16
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9444281943
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Cascade genetic screening for familial hypercholesterolemia
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Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004; 66:483-487. This mini review focuses on the organization of a cascade genetic screening programme for familial hypercholesterolaemia as well as cost-efficiency assessments, health benefits, possible adverse effects and the screening of children. The author concludes that cascade genetic screening for familial hypercholesterolaemia leads to health benefits and is cost-effective without causing psychological or social damage.
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(2004)
Clin Genet
, vol.66
, pp. 483-487
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Leren, T.P.1
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17
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3142717531
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Efficacy and safety of statin therapy in children with familial hypercholesterolemia: A randomized controlled trial
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Wiegman A, Hutten BA, Groot E, et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA 2004; 292:331-337. Two hundred and fourteen children with familial hypercholesterolaemia were assigned to a randomized, double-blind, placebo-controlled trial to determine the 2-year efficacy and safety of pravastatin. A significant regression in carotid intima-media thickness was observed in the treated group. No adverse effects were reported.
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(2004)
JAMA
, vol.292
, pp. 331-337
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Wiegman, A.1
Hutten, B.A.2
Groot, E.3
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18
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2442679496
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Clinical management of children and young adults with heterozygous familial hypercholesterolaemia in the UK
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Greene O, Durrington P. Clinical management of children and young adults with heterozygous familial hypercholesterolaemia in the UK. J R Soc Med 2004; 97:226-229.
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J R Soc Med
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, pp. 226-229
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Greene, O.1
Durrington, P.2
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19
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17144387029
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Cascade testing in familial hypercholesterolaemia: How should family members be contacted?
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Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005; 13:401-408. The alternative methods by which relatives can be contacted (via family members or healthcare workers) are examined for familial hypercholesterolaemia. Direct contact by healthcare workers is considered to be ethically justifiable for familial hypercholesterolaemia, and to improve the efficiency of the cascade process.
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(2005)
Eur J Hum Genet
, vol.13
, pp. 401-408
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Newson, A.J.1
Humphries, S.E.2
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20
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0031058511
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Patients' attitudes toward detection of heterozygous familial hypercholesterolemia
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Andersen LK, Jensen HK, Juul S, Faergeman O. Patients' attitudes toward detection of heterozygous familial hypercholesterolemia. Arch Intern Med 1997; 157:553-560.
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Arch Intern Med
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Andersen, L.K.1
Jensen, H.K.2
Juul, S.3
Faergeman, O.4
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21
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18544391486
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Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: A longitudinal study among participants
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van Maarle MC, Stouthard ME, Bonsel GJ. Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants. J Med Genet 2003; 40:e3.
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(2003)
J Med Genet
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Van Maarle, M.C.1
Stouthard, M.E.2
Bonsel, G.J.3
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22
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3042761430
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Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
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Marteau T, Senior V, Humphries SE, et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A 2004; 128:285-293. The impact of genetic testing was assessed in 341 familial hypercholesterolaemia families who were randomly allocated to routine clinical testing or to routine clinical testing plus genetic testing. The main finding was that a molecular diagnosis does not reduce the perceived control over hypercholesterolaemia, but does affect perceptions of how control is best achieved.
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(2004)
Am J Med Genet A
, vol.128
, pp. 285-293
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Marteau, T.1
Senior, V.2
Humphries, S.E.3
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23
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1442274587
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Effect of statin treatment for familial hypercholesterolaemia on life assurance: Results of consecutive surveys in 1990 and 2002
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Neil HA, Hammond T, Mant D, Humphries SE. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. BMJ 2004; 328:500-501. The same 26 life assurance companies were asked to assess a fictional familial hypercholesterolaemia patient in 1990 (no treatment) and in 2002 (before and after statin treatment). The authors concluded that risk is now being assessed more realistically, that it is based on phenotype rather than genotype, and relatives of familial hypercholesterolaemia patients should not be deterred from testing because of concerns about life assurance.
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(2004)
BMJ
, vol.328
, pp. 500-501
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Neil, H.A.1
Hammond, T.2
Mant, D.3
Humphries, S.E.4
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24
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1542374224
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Genetic screening of patients with familial hypercholesterolemia and insurability for life insurance policies and disability cover policies [in Dutch]
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Homsma SJ, Lansberg PJ, Kastelein JJ. Genetic screening of patients with familial hypercholesterolemia and insurability for life insurance policies and disability cover policies [in Dutch]. Ned Tijdschr Geneeskd 2004; 148:493-496.
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(2004)
Ned Tijdschr Geneeskd
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, pp. 493-496
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Homsma, S.J.1
Lansberg, P.J.2
Kastelein, J.J.3
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