Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1995 • 5,291 citations

Genetic Dissection of Complex Traits

1994 • 3,497 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Faster sequential genetic linkage computations.

1993 • 1,378 citations

THE TROMSØHEART-STUDY

1977 • 1,212 citations

Lipoproteins, Cardiovascular Disease, and Death

1981 • 540 citations

The Tromsø Heart Study

1983 • 500 citations

Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease.

1995 • 416 citations

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

1994 • 325 citations

Tangier Disease

1961 • 264 citations

Homozygous Tangier disease and cardiovascular disease

1994 • 257 citations

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1994 • 243 citations

DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

1987 • 154 citations

A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

1991 • 120 citations

HDL-Mediated Efflux of Intracellular Cholesterol Is Impaired in Fibroblasts From Tangier Disease Patients

1995 • 120 citations

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

1991 • 118 citations

Cystinosis

1968 • 109 citations

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

1995 • 108 citations

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

1993 • 89 citations

A note on multiple testing procedures in linkage analysis.

1991 • 86 citations

The High Density Lipoprotein- and Apolipoprotein A-I-Induced Mobilization of Cellular Cholesterol Is Impaired in Fibroblasts from Tangier Disease Subjects

1994 • 79 citations

Characterization of high density lipoproteins in patients heterozygous for Tangier disease.

1977 • 61 citations

Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms.

1996 • 47 citations

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

1994 • 25 citations