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Connection

Frederick Raal to Mutation

This is a "connection" page, showing publications Frederick Raal has written about Mutation.
Connection Strength

1,512
  1. Evolocumab in patients with homozygous familial hypercholesterolemia in India. J Clin Lipidol. 2021 Nov-Dec; 15(6):814-821.
    View in: PubMed
    Score: 0,172
  2. Evinacumab for Homozygous Familial Hypercholesterolemia. N Engl J Med. 2020 08 20; 383(8):711-720.
    View in: PubMed
    Score: 0,159
  3. Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa. Clin Genet. 1998 Jul; 54(1):74-8.
    View in: PubMed
    Score: 0,137
  4. Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa. Curr Opin Lipidol. 2018 04; 29(2):72-79.
    View in: PubMed
    Score: 0,134
  5. Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab. Arterioscler Thromb Vasc Biol. 2018 03; 38(3):592-598.
    View in: PubMed
    Score: 0,132
  6. Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. J Am Coll Cardiol. 2017 Aug 29; 70(9):1162-1170.
    View in: PubMed
    Score: 0,129
  7. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. Clin Genet. 1997 Jun; 51(6):394-8.
    View in: PubMed
    Score: 0,127
  8. Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study. Atherosclerosis. 2016 May; 248:238-44.
    View in: PubMed
    Score: 0,117
  9. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis. 2012 Aug; 223(2):262-8.
    View in: PubMed
    Score: 0,088
  10. Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria. Circ Genom Precis Med. 2022 10; 15(5):e003324.
    View in: PubMed
    Score: 0,046
  11. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis. 2000 Jun; 150(2):421-8.
    View in: PubMed
    Score: 0,039
  12. Efficacy of vitamin E compared with either simvastatin or atorvastatin in preventing the progression of atherosclerosis in homozygous familial hypercholesterolemia. Am J Cardiol. 1999 Dec 01; 84(11):1344-6, A7.
    View in: PubMed
    Score: 0,038
  13. Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa. Cardiovasc J Afr. 2019 Sep/Oct; 30(5):297-304.
    View in: PubMed
    Score: 0,037
  14. Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report. Arterioscler Thromb Vasc Biol. 2016 08; 36(8):1647-50.
    View in: PubMed
    Score: 0,029
  15. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov; 243(1):257-9.
    View in: PubMed
    Score: 0,028
  16. 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. Eur Heart J. 2014 Aug 21; 35(32):2146-57.
    View in: PubMed
    Score: 0,026
  17. 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. Eur Heart J. 2013 Dec; 34(45):3478-90a.
    View in: PubMed
    Score: 0,024
  18. Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype. Clin Chim Acta. 2007 Mar; 378(1-2):33-7.
    View in: PubMed
    Score: 0,015
  19. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001 Aug; 28(4):365-70.
    View in: PubMed
    Score: 0,011
  20. Lipoprotein(a) in homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2000 Feb; 20(2):522-8.
    View in: PubMed
    Score: 0,010
  21. Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. Hum Mutat. 1998; Suppl 1:S232-3.
    View in: PubMed
    Score: 0,008
  22. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. Arterioscler Thromb. 1993 Jul; 13(7):1076-81.
    View in: PubMed
    Score: 0,006
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.