Literature DB >> 7894220

European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

H Schuster1, S Humphries.   

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Year:  1994        PMID： 7894220     DOI： 10.1007/bf00190749

Source DB:  PubMed          Journal:  Clin Investig        ISSN： 0941-0198


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  74 in total

1.  A study of familial hypercholesterolaemia in Iceland using RFLPs.

Authors:  R Taylor; J Bryant; V Gudnason; G Sigurdsson; S Humphries
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

2.  Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

Authors:  N Loux; B Saint-Jore; G Collod; P Benlian; J P Cambou; M Denat; C Junien; C Boileau
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

Review 3.  Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia.

Authors:  N B Myant
Journal:  Atherosclerosis       Date:  1993-12       Impact factor: 5.162

Review 4.  LDL-apheresis: results of longterm treatment and vascular outcome.

Authors:  C Keller
Journal:  Atherosclerosis       Date:  1991-01       Impact factor: 5.162

5.  Interaction between low density lipoprotein receptor (LDLR) and apolipoprotein E (apoE) alleles contributes to normal variation in lipid level.

Authors:  J C Pedersen; K Berg
Journal:  Clin Genet       Date:  1989-05       Impact factor: 4.438

6.  A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).

Authors:  N Lelli; R Garuti; P Pedrazzi; M Ghisellini; M L Simone; R Tiozzo; L Cattin; M Valenti; M Rolleri; S Bertolini
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

7.  Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes.

Authors:  J A Cuthbert; C A East; D W Bilheimer; P E Lipsky
Journal:  N Engl J Med       Date:  1986-04-03       Impact factor: 91.245

8.  Effect of apolipoprotein E polymorphism and XbaI polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia.

Authors:  J P Ojala; E Helve; C Ehnholm; K Aalto-Setälä; K K Kontula; M J Tikkanen
Journal:  J Intern Med       Date:  1991-11       Impact factor: 8.989

9.  A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

Authors:  A K Soutar
Journal:  Nucleic Acids Res       Date:  1991-08-11       Impact factor: 16.971

10.  Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

Authors:  H H Hobbs; E Leitersdorf; C C Leffert; D R Cryer; M S Brown; J L Goldstein
Journal:  J Clin Invest       Date:  1989-08       Impact factor: 14.808
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  2 in total

1.  Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

Authors:  U M Koivisto; J S Viikari; K Kontula
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

2.  Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Authors:  Vassil A Mihaylov; Anelia D Horvath; Alexey S Savov; Elina F Kurshelova; Ivanka D Paskaleva; Assen R Goudev; Ivaylo R Stoilov; Varban S Ganev
Journal:  J Hum Genet       Date:  2004-03-10       Impact factor: 3.172
  2 in total

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