Literature DB >> 5025321

Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism.

H G Schrott, J L Goldstein, W R Hazzard, M M McGoodwin, A G Motulsky.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1972        PMID： 5025321     DOI： 10.7326/0003-4819-76-5-711

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN： 0003-4819            Impact factor:   25.391


× No keyword cloud information.
  16 in total

1.  Bivariate analyses of cholesterol and triglyceride levels in families in which probands have type IIb lipoprotein phenotype.

Authors:  K K Namboodiri; R C Elston; C J Glueck; R Fallat; C R Buncher; R Tsang
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

2.  Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia.

Authors:  D W Bilheimer; Y K Ho; M S Brown; R G Anderson; J L Goldstein
Journal:  J Clin Invest       Date:  1978-03       Impact factor: 14.808

3.  William Allan Award Address: On the role and soul of a statistical geneticist.

Authors:  Jürg Ott
Journal:  Am J Hum Genet       Date:  2011-03-11       Impact factor: 11.025

Review 4.  [Cell receptor defects as the cause of endocrine and metabolic diseases (author's transl)].

Authors:  W Gerok
Journal:  Klin Wochenschr       Date:  1979-06-15

5.  Homozygous familial hypercholesterolemia: specificity of the biochemical defect in cultured cells and feasibility of prenatal detection.

Authors:  J L Goldstein; M J Harrod; M S Brown
Journal:  Am J Hum Genet       Date:  1974-03       Impact factor: 11.025

6.  Immunochemical quantification of human plasma Lp(a) lipoprotein.

Authors:  J J Albers; W R Hazzard
Journal:  Lipids       Date:  1974-01       Impact factor: 1.880

7.  Detection of genetic heterogeneity among pedigrees through complex segregation analysis: an application to hypercholesterolemia.

Authors:  P P Moll; T D Berry; W H Weidman; R Ellefson; H Gordon; B A Kottke
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

8.  Linkage studies in a large kindred with familial hypercholesterolemia.

Authors:  J Ott; H G Schrott; J L Goldstein; W R Hazzard; F H Allen; C T Falk; A G Motulsky
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

9.  Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

Authors:  J L Goldstein; H G Schrott; W R Hazzard; E L Bierman; A G Motulsky
Journal:  J Clin Invest       Date:  1973-07       Impact factor: 14.808

10.  Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol.

Authors:  J L Goldstein; M S Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1973-10       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.