The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
暂无分享,去创建一个
Matthew K Ito | Gerald F Watts | Brian McCrindle | J. Knowles | D. Rader | B. McCrindle | G. Watts | Matthew K. Ito | S. Gidding | S. D. de Ferranti | M. A. Champagne | F. Raal | R. Santos | A. Wierzbicki | M. Lopes-Virella | Samuel S Gidding | Joshua W Knowles | J. Defesche | Sarah D de Ferranti | Anthony S Wierzbicki | Raul D Santos | Mary Ann Champagne | Joep Defesche | Frederick Raal | Daniel Rader | Maria Lopes-Virella
[1] M. Taskinen,et al. 'Ten Commandments' from the 2016 ESC/EAS Guidelines for the management of dyslipidaemias. , 2011, European heart journal.
[2] Jennifer G. Robinson,et al. Efficacy and safety of evolocumab in reducing lipids and cardiovascular events. , 2015, The New England journal of medicine.
[3] Jennifer G. Robinson,et al. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events. , 2015, The New England journal of medicine.
[4] E. Sijbrands,et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. , 2015, European heart journal.
[5] A. Hofman,et al. Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach , 2014, European Journal of Human Genetics.
[6] R. Santos,et al. Long-term efficacy and safety of mipomersen in patients with familial hypercholesterolaemia: 2-year interim results of an open-label extension , 2013, European heart journal.
[7] S. Humphries,et al. Statins for children with familial hypercholesterolemia. , 2020, The Cochrane database of systematic reviews.
[8] G. Watts,et al. Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment , 2015, International Journal of Behavioral Medicine.
[9] Diederik F Van Wijk,et al. Nonpharmacological lipoprotein apheresis reduces arterial inflammation in familial hypercholesterolemia. , 2014, Journal of the American College of Cardiology.
[10] J. Kastelein,et al. Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia. , 2014, JAMA.
[11] J. Borén,et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society , 2014, Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir.
[12] Z. Ademi,et al. Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia. , 2014, Journal of clinical lipidology.
[13] K. Frick,et al. Cost-effectiveness of Nurse Practitioner/Community Health Worker Care to Reduce Cardiovascular Health Disparities , 2014, The Journal of cardiovascular nursing.
[14] Jennifer G. Robinson,et al. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. , 2014, Circulation.
[15] J. Ordovás,et al. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. , 2014, Journal of the American College of Cardiology.
[16] S. Tsimikas,et al. The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies. , 2014, Journal of the American College of Cardiology.
[17] R. Rosenson,et al. An assessment by the Statin Muscle Safety Task Force: 2014 update. , 2014, Journal of clinical lipidology.
[18] A. Sturm. The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia , 2014, Current Genetic Medicine Reports.
[19] Andrew B. Kirke,et al. Familial hypercholesterolaemia in primary care: knowledge and practices among general practitioners in Western Australia. , 2014, Heart, lung & circulation.
[20] D. Rader,et al. Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia. , 2014, Circulation.
[21] S. Yamashita,et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. , 2014, Journal of clinical lipidology.
[22] Emily C. O'Brien,et al. Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. , 2014, American heart journal.
[23] F. Sacks,et al. Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide. , 2014, JAMA internal medicine.
[24] A. Tonkin. Faculty Opinions recommendation of Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. , 2014 .
[25] Jennifer G. Robinson,et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. , 2014, American journal of human genetics.
[26] N. Seidah,et al. APOE p.Leu167del mutation in familial hypercholesterolemia. , 2013, Atherosclerosis.
[27] S. Gabriel,et al. Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia , 2013, Arteriosclerosis, thrombosis, and vascular biology.
[28] G. Watts,et al. The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: developing a new framework for future therapies. , 2013, International journal of cardiology.
[29] Z. Ademi,et al. A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia. , 2013, International journal of cardiology.
[30] F. Raal,et al. Effect of the Proprotein Convertase Subtilisin/Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia , 2013, Circulation.
[31] G. Francis,et al. Design and baseline data of a pediatric study with rosuvastatin in familial hypercholesterolemia. , 2013, Journal of clinical lipidology.
[32] L. Ose,et al. Screening methods in the diagnosis and assessment of children and adolescents with familial hypercholesterolemia , 2013, Expert review of cardiovascular therapy.
[33] D. Blom,et al. Recent advances in the treatment of homozygous familial hypercholesterolaemia , 2013, Current opinion in lipidology.
[34] L. Game,et al. Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia , 2013, Molecular genetics & genomic medicine.
[35] D. Mikhailidis,et al. New therapies to reduce low-density lipoprotein cholesterol , 2013, Current opinion in cardiology.
[36] J. Knowles,et al. Role of international registries in enhancing the care of familial hypercholesterolaemia. , 2013, International journal of evidence-based healthcare.
[37] E. Ribeiro,et al. Extensive xanthomas and severe subclinical atherosclerosis in homozygous familial hypercholesterolemia. , 2013, Journal of the American College of Cardiology.
[38] J. Kleijnen,et al. Systematic review of the accuracy of dual-source cardiac CT for detection of arterial stenosis in difficult to image patient groups. , 2013, Radiology.
[39] Sonia Shah,et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study , 2013, The Lancet.
[40] X. Alomar Serrallach,et al. Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations. , 2013, The American journal of cardiology.
[41] G. Watts,et al. Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care , 2013, Journal of paediatrics and child health.
[42] J. Kastelein,et al. Diagnosis and treatment of familial hypercholesterolaemia. , 2013, European heart journal.
[43] B. Zinman,et al. Coronary artery calcium score prediction of all cause mortality and cardiovascular events in people with type 2 diabetes: systematic review and meta-analysis , 2013, British medical journal.
[44] D. Zambón,et al. Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes , 2013, Expert review of cardiovascular therapy.
[45] K. Thirlaway,et al. Individuals’ experiences of, and responses to, a negative genetic test result for familial hypercholesterolaemia , 2013, Journal of health psychology.
[46] P. Iversen,et al. Maternal familial hypercholesterolaemia (FH) confers altered haemostatic profile in offspring with and without FH. , 2013, Thrombosis research.
[47] D. Gaudet,et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study , 2013, The Lancet.
[48] Mathilde Varret,et al. Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation , 2013, Human mutation.
[49] D. Simons-Morton,et al. Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Summary Report , 2011, Pediatrics.
[50] U. Julius,et al. Lipoprotein apheresis: state of the art and novelties. , 2013, Atherosclerosis. Supplements.
[51] M. Banach,et al. Management of familial heterozygous hypercholesterolemia. Position paper of the Polish Lipid Expert Forum. , 2013, Polskie Archiwum Medycyny Wewnetrznej.
[52] G. Thompson. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. , 2013, Atherosclerosis. Supplements.
[53] J. Frohlich,et al. Regional and national familial hypercholesterolemia registries: present international application, importance, and needs for Canada. , 2013, The Canadian journal of cardiology.
[54] K. Williams,et al. Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis. , 2012, Journal of the American College of Cardiology.
[55] A. Wierzbicki,et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia , 2012, Heart.
[56] J. Kastelein,et al. The PCSK9 decade , 2012, Journal of Lipid Research.
[57] F. Raal,et al. Low-Density Lipoprotein Cholesterol–Lowering Effects of AMG 145, a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease in Patients With Heterozygous Familial Hypercholesterolemia: The Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterole , 2012, Circulation.
[58] G. Watts,et al. Opportunistic screening for familial hypercholesterolaemia via a community laboratory , 2012, Annals of clinical biochemistry.
[59] Z. Ademi,et al. Familial hypercholesterolaemia: a review with emphasis on evidence for treatment, new models of care and health economic evaluations. , 2012, International journal of evidence-based healthcare.
[60] Andrew C. R. Martin,et al. Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment , 2012, Annals of human genetics.
[61] P. Clifton,et al. A new model of care for familial hypercholesterolaemia: what is the role of cardiology? , 2012, Heart, lung & circulation.
[62] D. Goff,et al. Comparison of novel risk markers for improvement in cardiovascular risk assessment in intermediate-risk individuals. , 2012, JAMA.
[63] T. van der Weijden,et al. Being at risk for cardiovascular disease: Perceptions and preventive behavior in people with and without a known genetic predisposition , 2012, Psychology, health & medicine.
[64] F. Raal,et al. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. , 2012, Atherosclerosis.
[65] M. Pencina,et al. Coronary Computed Tomographic Angiography and Risk of All-Cause Mortality and Nonfatal Myocardial Infarction in Subjects Without Chest Pain Syndrome From the CONFIRM Registry (Coronary CT Angiography Evaluation for Clinical Outcomes: An International Multicenter Registry) , 2012, Circulation.
[66] K. Arnesen,et al. Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia. , 2012, Journal of clinical lipidology.
[67] J. Kastelein,et al. Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia: A Cross-Sectional Study in 26 406 Individuals Tested for Genetic FH , 2012, Circulation. Cardiovascular genetics.
[68] G. Watts,et al. Detection and care of familial hypercholesterolaemia in the community: is there a role for the pharmacist? , 2012, International Journal of Clinical Pharmacy.
[69] S. Daniels,et al. Developing the 2011 Integrated Pediatric Guidelines for Cardiovascular Risk Reduction , 2012, Pediatrics.
[70] J. Kastelein,et al. Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study , 2012, European Journal of Human Genetics.
[71] D. Wald,et al. The evaluation of cascade testing for familial hypercholesterolemia , 2012, American journal of medical genetics. Part A.
[72] S. Yamashita,et al. Guidelines for the management of familial hypercholesterolemia. , 2012, Journal of atherosclerosis and thrombosis.
[73] M. Yacoub,et al. Translational Lessons from a Case of Combined Heart and Liver Transplantation for Familial Hypercholesterolemia 20 Years Post-operatively , 2012, Journal of Cardiovascular Translational Research.
[74] J. Goss,et al. Homozygous Familial Hypercholesterolemia: Case Series and Review of the Literature , 2012, Case reports in transplantation.
[75] S. Daniels. Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Summary Report , 2011, Pediatrics.
[76] C. Town,et al. Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy , 2011, Circulation.
[77] D. Wald,et al. Child-parent screening for familial hypercholesterolemia. , 2011, The Journal of pediatrics.
[78] P. Iversen,et al. Pregnancy Outcomes in Familial Hypercholesterolemia: A Registry-Based Study , 2011, Circulation.
[79] J. Emery,et al. Familial hypercholesterolaemia: a model of care for Australasia. , 2011, Atherosclerosis. Supplements.
[80] C. de Beaufort,et al. Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization. , 2011, Atherosclerosis.
[81] K. Horstman,et al. The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries , 2011, Scandinavian journal of public health.
[82] P. Kolh,et al. ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). , 2011, European heart journal.
[83] M Thorogood,et al. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies , 2011, Heart.
[84] E. Guallar,et al. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART) , 2011, Lipids in Health and Disease.
[85] Jennifer G. Robinson,et al. Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. , 2011, Journal of clinical lipidology.
[86] S. Daniels,et al. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. , 2011, Journal of clinical lipidology.
[87] S. Cordner,et al. Alerting genetic relatives to a risk of serious inherited disease without a patient's consent , 2011, The Medical journal of Australia.
[88] E. Sijbrands,et al. CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia , 2011, Heart.
[89] Jennifer G. Robinson,et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. , 2011, Journal of clinical lipidology.
[90] R. O'rourke,et al. Is Optimal Medical Therapy as Used in the COURAGE Trial Feasible for Widespread Use? , 2011, Current treatment options in cardiovascular medicine.
[91] G. Filler. Challenges in pediatric transplantation: The impact of chronic kidney disease and cardiovascular risk factors on long‐term outcomes and recommended management strategies , 2011, Pediatric transplantation.
[92] S. Day,et al. Psychological Issues in Genetic Testing for Inherited Cardiovascular Diseases , 2011, Circulation. Cardiovascular genetics.
[93] V. Nobili,et al. Preemptive liver transplantation in a child with familial hypercholesterolemia , 2010, Pediatric transplantation.
[94] K. Widhalm,et al. Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia. , 2011, The Journal of pediatrics.
[95] C. Rochitte,et al. Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia. , 2010, Atherosclerosis.
[96] J. Borén,et al. Lipoprotein(a) as a cardiovascular risk factor: current status , 2010, European heart journal.
[97] I. Mcdowell,et al. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia , 2010, Current opinion in lipidology.
[98] W. Neal,et al. Universal Versus Targeted Blood Cholesterol Screening Among Youth: The CARDIAC Project , 2010, Pediatrics.
[99] S. G. Hadfield,et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project , 2010, Clinical genetics.
[100] D. Gaudet,et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial , 2010, The Lancet.
[101] E. Sijbrands,et al. Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal , 2010, PloS one.
[102] R. Weinstein,et al. Guidelines on the use of therapeutic apheresis in clinical practice—Evidence‐based approach from the apheresis applications committee of the American Society for Apheresis , 2010, Journal of clinical apheresis.
[103] E. Sijbrands,et al. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. , 2009, Atherosclerosis.
[104] S. Humphries,et al. Identification and management of familial hypercholesterolaemia: what does it mean to primary care? , 2009, The British journal of general practice : the journal of the Royal College of General Practitioners.
[105] Lawrence J. Fine,et al. ACCF/AHA/ACP 2009 competence and training statement: a curriculum on prevention of cardiovascular disease: a report of the American College of Cardiology Foundation/American Heart Association/American College of Physicians Task Force on Competence and Training (Writing Committee to Develop a Compete , 2009, Circulation.
[106] C. Müller. Xanthomata, Hypercholesterolemia, Angina Pectoris. , 2009 .
[107] P. Hopkins,et al. Benefits of the MEDPED treatment support program for patients with familial hypercholesterolemia. , 2009, Journal of clinical lipidology.
[108] J. Goldstein,et al. The LDL receptor. , 2009, Arteriosclerosis, thrombosis, and vascular biology.
[109] B. Astaneh,et al. Triple coronary artery bypass graft in a 10-year-old child with familial hypercholesterolemia , 2009, General thoracic and cardiovascular surgery.
[110] S. G. Hadfield,et al. Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project , 2009, Annals of clinical biochemistry.
[111] S. Humphries,et al. Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia , 2008, Heart.
[112] J. Oliva,et al. Análisis coste-efectividad de un programa de cribado genético en familiares directos de pacientes con hipercolesterolemia familiar en España , 2009 .
[113] J. Oliva,et al. [Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia]. , 2009, Revista espanola de cardiologia.
[114] D. Rader,et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. , 2008, The American journal of cardiology.
[115] J. Witteman,et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study , 2008, BMJ : British Medical Journal.
[116] B. Kleinman,et al. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. , 2008, The American journal of cardiology.
[117] G. Watts,et al. Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology. , 2008, Heart, lung & circulation.
[118] C. Rochitte,et al. No correlation and low agreement of imaging and inflammatory atherosclerosis' markers in familial hypercholesterolemia. , 2008, Atherosclerosis.
[119] S. Humphries,et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? , 2008, Current opinion in lipidology.
[120] S. Humphries,et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing , 2008, Clinical chemistry and laboratory medicine.
[121] G. Thompson. Recommendations for the use of LDL apheresis. , 2008, Atherosclerosis.
[122] C. Rochitte,et al. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. , 2008, Atherosclerosis.
[123] D. Rader,et al. A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia. , 2008, Atherosclerosis.
[124] M. Pencina,et al. General Cardiovascular Risk Profile for Use in Primary Care: The Framingham Heart Study , 2008, Circulation.
[125] H. Schlitt,et al. Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL‐receptor gene mutation , 2007, Clinical transplantation.
[126] S. Humphries,et al. Identification and management of familial hypercholesterolaemia , 2008 .
[127] E. Sijbrands,et al. Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance , 2008, European Journal of Human Genetics.
[128] E. Sijbrands,et al. Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance , 2008, European Journal of Human Genetics.
[129] Mika Kähönen,et al. Association of Pathobiologic Determinants of Atherosclerosis in Youth risk score and 15-year change in risk score with carotid artery intima-media thickness in young adults (from the Cardiovascular Risk in Young Finns Study). , 2007, The American journal of cardiology.
[130] M. Modell,et al. Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre , 2007, Heart.
[131] K. Malterud,et al. How do patients at risk portray candidates for coronary heart disease? A qualitative interview study , 2007, Scandinavian journal of primary health care.
[132] S. Tonstad,et al. Marked changes in plasma lipids and lipoproteins during pregnancy in women with familial hypercholesterolemia. , 2006, Atherosclerosis.
[133] S. Gidding,et al. Metabolic syndrome with early aortic atherosclerosis in a child. , 2006, Journal of the cardiometabolic syndrome.
[134] K. Usher,et al. Developing the future nurse leaders of Fiji. , 2006, The Australian journal of advanced nursing : a quarterly publication of the Royal Australian Nursing Federation.
[135] K. Malterud,et al. Perceived Vulnerability to Heart Disease in Patients with Familial Hypercholesterolemia: A Qualitative Interview Study , 2006, The Annals of Family Medicine.
[136] Patricia Davidson,et al. Beyond the rhetoric: what do we mean by a 'model of care'? , 2006, The Australian journal of advanced nursing : a quarterly publication of the Royal Australian Nursing Federation.
[137] G. Suthers,et al. Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder , 2005, Journal of Medical Genetics.
[138] E. Sijbrands,et al. Low-Density Lipoprotein Receptor Genotype and Response to Pravastatin in Children With Familial Hypercholesterolemia: Substudy of an Intima-Media Thickness Trial , 2005, Circulation.
[139] G. Hermerén,et al. Familial hypercholesterolemia: ethical, practical and psychological problems from the perspective of patients. , 2005, Patient education and counseling.
[140] Zahi A Fayad,et al. Risk scores predict atherosclerotic lesions in young people. , 2005, Archives of internal medicine.
[141] T. Leren,et al. Cascade genetic screening for familial hypercholesterolemia , 2004, Clinical genetics.
[142] C. Stefanadis,et al. Exercise testing in asymptomatic patients with heterozygous familial hypercholesterolaemia , 2004, Coronary artery disease.
[143] B. Tate,et al. Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: Response to liver transplantation , 2004, The Australasian journal of dermatology.
[144] A. Soutar,et al. Current management of severe homozygous hypercholesterolaemias , 2004, Current opinion in lipidology.
[145] D. Panagiotakos,et al. Exercise capacity and heart rate recovery as predictors of coronary heart disease events, in patients with heterozygous Familial Hypercholesterolemia. , 2004, Atherosclerosis.
[146] S. Humphries,et al. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002 , 2004, BMJ : British Medical Journal.
[147] J. Kastelein,et al. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. , 2004, Seminars in vascular medicine.
[148] E. Sijbrands,et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia , 2004, The Lancet.
[149] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[150] J. Kastelein,et al. Silent ischaemia in familial hypercholesterolemia. , 2003, Atherosclerosis. Supplements.
[151] A. Soutar,et al. Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia , 2003, Arteriosclerosis, thrombosis, and vascular biology.
[152] M. Grootenhuis,et al. Quality of life, anxiety and concerns among statin‐treated children with familial hypercholesterolaemia and their parents. , 2003, Acta paediatrica.
[153] Jonathan D. Cohen,et al. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. , 2003, The Journal of clinical investigation.
[154] J. Weissenbach,et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia , 2003, Nature Genetics.
[155] C. Yutani,et al. Hypercholesterolemic valvulopathy: an aspect of malignant atherosclerosis. , 2003, Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy.
[156] J. Kastelein,et al. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia , 2003, Journal of internal medicine.
[157] E. Sijbrands,et al. Low-Density Lipoprotein Receptor Gene Mutations and Cardiovascular Risk in a Large Genetic Cascade Screening Population , 2002, Circulation.
[158] Margaret Thorogood,et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia , 2002, BMJ : British Medical Journal.
[159] D. Gaudet,et al. Efficacy and Safety of Ezetimibe Coadministered With Atorvastatin or Simvastatin in Patients With Homozygous Familial Hypercholesterolemia , 2002, Circulation.
[160] J. Kastelein,et al. Phenotypic variability in familial hypercholesterolaemia: an update , 2002, Current opinion in lipidology.
[161] B. McCrindle,et al. Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia , 2002, Cardiology in the Young.
[162] D. Blom,et al. Statins in homozygous familial hypercholesterolemia , 2002, Current atherosclerosis reports.
[163] I. Mellman,et al. A Novel Cellular Phenotype for Familial Hypercholesterolemia due to a Defect in Polarized Targeting of LDL Receptor , 2001, Cell.
[164] J J Kastelein,et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. , 2001, BMJ : British Medical Journal.
[165] J. Borén,et al. The Molecular Mechanism for the Genetic Disorder Familial Defective Apolipoprotein B100* , 2001, The Journal of Biological Chemistry.
[166] E. Sijbrands,et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands , 2001, The Lancet.
[167] D. Illingworth,et al. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. , 2000, Atherosclerosis.
[168] I. Young,et al. Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. , 1999, Atherosclerosis.
[169] J. Kastelein,et al. Opsporing van patiënten met familiaire hypercholesterolemie in Nederland , 1999 .
[170] J. Després,et al. Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men. , 1999, Atherosclerosis.
[171] M. Matsuzaki,et al. Assessment by transesophageal echography of atherosclerosis of the descending thoracic aorta in patients with hypercholesterolemia. , 1999, The American journal of cardiology.
[172] J. Kastelein,et al. [Tracing of patients with familial hypercholesterolemia in the Netherlands]. , 1999, Nederlands tijdschrift voor geneeskunde.
[173] S. Gidding,et al. Usefulness of electron beam tomography in adolescents and young adults with heterozygous familial hypercholesterolemia. , 1998, Circulation.
[174] P. Nihoyannopoulos,et al. Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia , 1998, Heart.
[175] R M Summers,et al. Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. , 1998, Circulation.
[176] R. Westendorp,et al. Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations. , 1998, Atherosclerosis.
[177] D. Illingworth,et al. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia. , 1997, Atherosclerosis.
[178] J L Witztum,et al. Fatty streak formation occurs in human fetal aortas and is greatly enhanced by maternal hypercholesterolemia. Intimal accumulation of low density lipoprotein and its oxidation precede monocyte recruitment into early atherosclerotic lesions. , 1997, The Journal of clinical investigation.
[179] J. Després,et al. Comparison of the effect of two low‐density lipoprotein receptor class mutations on coronary heart disease among French‐Canadian patients heterozygous for familial hypercholesterolaemia , 1997, European journal of clinical investigation.
[180] K. Retterstøl,et al. Results of intensive long-term treatment of familial hypercholesterolemia. , 1996, The American journal of cardiology.
[181] E. Makariou,et al. Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. , 1996, The American journal of cardiology.
[182] U. Müller,et al. Four Years’ Treatment Efficacy of Patients with Severe Hyperlipidemia. Lipid Lowering Drugs versus LDL-Apheresis , 1995, The International journal of artificial organs.
[183] A. Soutar,et al. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. , 1995, Arteriosclerosis, thrombosis, and vascular biology.
[184] V. Gudnason,et al. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. , 1994, Arteriosclerosis and thrombosis : a journal of vascular biology.
[185] P. Kovanen,et al. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo. , 1993, Arteriosclerosis and thrombosis : a journal of vascular biology.
[186] M. Hayden,et al. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. , 1993, Archives of internal medicine.
[187] M. Leppert,et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. , 1993, The American journal of cardiology.
[188] W. D. de Villiers,et al. Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia. , 1993, Atherosclerosis.
[189] J. H. MacMillan,et al. Detection of silent coronary artery disease in adolescents and young adults with familial hypercholesterolemia by single-photon emission computed tomography thallium-201 scanning. , 1992, The American journal of cardiology.
[190] H. Hobbs,et al. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia , 1992, Human mutation.
[191] O. Wiklund,et al. Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima-media thickness in the common carotid artery. , 1992, Arteriosclerosis and thrombosis : a journal of vascular biology.
[192] Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. , 1991, BMJ.
[193] T. Meyer,et al. Natural history and cardiac manifestations of homozygous familial hypercholesterolaemia. , 1990, The Quarterly journal of medicine.
[194] E. Boerwinkle,et al. Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. , 1990, The New England journal of medicine.
[195] T. Farag. Familial hypercholesterolemia. , 1988, Journal of the Royal Society of Medicine.
[196] M. Brown,et al. A receptor-mediated pathway for cholesterol homeostasis. , 1986, Science.
[197] U. Francke,et al. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[198] M. Brown,et al. Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight. , 1982, The Journal of biological chemistry.
[199] M. Brown,et al. Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygote. , 1976, Proceedings of the National Academy of Sciences of the United States of America.
[200] J. Goldstein,et al. Expression of the Familial Hypercholesterolemia Gene in Heterozygotes: Mechanism for a Dominant Disorder in Man , 1974, Science.
[201] J. Verter,et al. Coronary Artery Disease in 116 Kindred with Familial Type II Hyperlipoproteinemia , 1974, Circulation.
[202] M. Brown,et al. Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. , 1973, Proceedings of the National Academy of Sciences of the United States of America.
[203] L. Christiaens,et al. [ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA]. , 1964, Annales de pediatrie.
[204] A. Khachadurian. THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. , 1964, The American journal of medicine.
[205] K. Winkler. [Xanthomatous diseases of the skin]. , 1951, Zeitschrift fur Haut- und Geschlechtskrankheiten.
[206] M. Fliegelman,et al. ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMI , 1948 .