Searched for: subject%3A%22Pedigree%22
(1 - 14 of 14)
document
Gaubius Instituut TNO Preventie en Gezondheid (author), Hoekstra, C. (author), Meijer, P. (author), Kluft, C. (author), Heutink, P. (author), Smit, G. (author), de Geus, E. (author), Smit, J.H. (author), van Bruggen, A. (author), Montgomery, G.W. (author), Boomsma, D.I. (author)
To locate the genes that make a substantial contribution to variation in natural dizygotic twinning in humans, large-scale studies are needed. New studies should not stop at DNA genotyping, but collect material that allow gene-expression analysis, transcriptomics, proteomics and endocrinology. In this article we describe a pilot study to examine...
article 2004
document
Gaubius Instituut TNO Preventie en Gezondheid (author), Neale, M.C. (author), de Knijff, P. (author), Havekes, L.M. (author), Boomsma, D.I. (author)
ApoE levels and chromosome 19 ApoE polymorphisms were measured in a sample of 156 Dutch families. Each pedigree consisted of parents aged 35-65 years and their twin offspring aged 14-21 years. A significant effect of the chromosome 19 apoE locus on quantitative plasma levels of apolipoprotein E was observed. The ApoE polymorphism explained 16%...
article 2000
document
Sijbrands, E.J.G. (author), Hoffer, M.J.V. (author), Meinders, A.E. (author), Havekes, L.M. (author), Frants, R.R. (author), Smelt, A.H.M. (author), de Knijff, P. (author), Gaubius instituut TNO (author)
More than 90% of patients with type III hyperlipoproteinemia are homozygous carriers of the apolipoprotein (apo) E*2 allele. The great majority of these apoE2(Arg158→Cys) homozygotes in the general population, however, are normolipidemic. Apparently, expression of the hyperlipidemic state requires additional genetic and/or environmental factors,...
article 1999
document
Bank, R.A. (author), Robins, S.P. (author), Wijmenga, C. (author), Breslau-Siderius, L.J. (author), Bardoel, A.F.J. (author), van der Sluijs, H.A. (author), Pruijs, H.E.H. (author), Tekoppele, J.M. (author)
Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile bones, and short stature. We report that lysine residues within the telopeptides of collagen type I in bone are underhydroxylated, leading to aberrant crosslinking, but that the lysine residues in the triple helix are normally modified. In contrast to...
article 1999
document
Hoffer, M.J.V. (author), Bredie, S.J.H. (author), Snieder, H. (author), Reymer, P.W.A. (author), Demacker, P.N.M. (author), Havekes, L.M. (author), Boomsma, D.I. (author), Stalenhoef, A.F.H. (author), Frants, R.R. (author), Kastelein, J.J.P. (author), Gaubius Instituut TNO (author)
Familial combined hyperlipidemia (FCHL) is a frequent cause of premature coronary artery disease. Affected family members are characterized by different combinations of elevated cholesterol and/or triglyceride levels. A reduction in lipoprotein lipase (LPL) activity has been observed in a subgroup of FCHL patients. Recently, we have demonstrated...
article 1998
document
Hoffer, M.J.V. (author), Bredie, S.J.H. (author), Boomsma, D.I. (author), Reymer, P.W.A. (author), Kastelein, J.J.P. (author), de Knijff, P. (author), Demacker, P.N.M. (author), Stalenhoef, A.F.H. (author), Havekes, L.M. (author), Frants, R.R. (author), Gaubius Instituut TNO (author)
Familial combined hyperlipidaemia (FCHL) is one of the major genetic causes of coronary heart disease (CHD) and is characterised by elevated levels of plasma cholesterol and/or triglycerides in individuals within a single family. Decreased lipoprotein lipase (LPL) activity has been found in some cases of FCHL. A recent study revealed a common...
article 1996
document
Hennis, B.C. (author), Boomsma, D.I. (author), van Boheemen, P.A. (author), Engesser, L. (author), Kievit, P. (author), Dooijewaard, G. (author), Kluft, C. (author), TNO Preventie en Gezondheid (author)
A pedigree-based maximum likelihood method developed by Lange et al. (12) was used to study the contribution of a newly defined di-allelic polymorphism in histidine-rich glycoprotein (HRG) to the plasma levels of HRG. In four families (n = 99) and 20 volunteers we found a heritability of 70%, an age effect of 3% and an effect of individual...
article 1995
document
Hennis, B.C. (author), van Boheemen, P.A. (author), Wakabayashi, S. (author), Koide, T. (author), Hoffmann, J.J.M.L. (author), Kievit, P. (author), Dooijewaard, G. (author), Jansen, J.G. (author), Klutf, C. (author), TNO Preventie en Gezondheid (author)
Two forms of histidine-rich glycoprotein (HRG) were detected on SDS-PAGE by silver staining and immunoblotting after isolation of the protein from pooled plasma using immune-affinity chromatography followed by chromatography with heparin-Sepharose. Both forms were single-chain molecules and the apparent molecular weights of form 1 and form 2...
article 1995
document
Hennis, B.C. (author), van Boheemen, P.A. (author), Koeleman, B.P.C. (author), Boomsma, D.I. (author), Engesser, L. (author), van Wees, A.G.M. (author), Novakova, I. (author), Brommer, E.J.P. (author), Kluft, C. (author), Gaubius Instituut TNO (author)
Recent studies describe families with both elevated plasma HRG levels and thrombosis. In order to study the possibility that allelic variants of the HRG locus are associated with differences in HRG level, we studied linkage between HRG levels and a dinucleotide repeat polymorphism in a Dutch family which was selected on the presence of both...
article 1995
document
Lombardi, P. (author), Hoffer, M.J.V. (author), Top, B. (author), de Wit, E. (author), Gevers Leuven, J.A. (author), Frants, R.R. (author), Havekes, L.M. (author), Gaubius Instituut TNO (author)
In this report, we describe the characterization of a mutation in the low density lipoprotein (LDL) receptor gene of a true homozygous familial hypercholesterolemic (FH) patient. The combined use of denaturing gradient gel electrophoresis (DGGE) and DNA sequence analysis revealed a unique A to G transition in the penultimate 3'-nucleotide of...
article 1993
document
Gaubius Instituut TNO (author), de Knijff, P. (author), van den Maagdenberg, A.M.J.M. (author), Stalenhoef, A.F.H. (author), Leuven, J.A.G. (author), Demacker, P.N.M. (author), Kuyt, L.P. (author), Frants, R.R. (author), Havekes, L.M. (author)
By the careful screening of familial dysbetalipoproteinemic (FD) patients, five probands showing heterozygosity for the APOE*3-Leiden allele were found. Genealogical studies revealed that these probands share common ancestry in the 17th century. In a group of 128 family members, spanning three generations, 37 additional heterozygous APOE*3...
article 1991
document
Engesser, L. (author), Brommer, E.J.P. (author), Kluft, C. (author), Briet, E. (author), Gaubius Instituut TNO (author)
Two hundred and three patients with venous thrombophilia were investigated in order to find out whether an elevated plasma concentration of plasminogen activator inhibitor (PAI) could be a cause of their tendency to thrombosis. The patients were studied in an asymptomatic period about 3 months after their last thromboembolic episode. PAI...
article 1989
document
Kluft, C. (author), Nieuwenhuis, H.K. (author), Rijken, D.C. (author), Groeneveld, E. (author), Wijngaards, G. (author), van Berkel, W. (author), Dooijewaard, G. (author), Sixma, J.J. (author), Gaubius instituut TNO (author)
??2-Antiplasmin (??2-AP) is a major fibrinolysis inhibitor, whose complete, congenital absence has been found to be associated with a distinct hemorrhagic diathesis. We studied a 15-yr-old male with a hemorrhagic diathesis after trauma from early childhood on. This bleeding tendency was associated with a minimal ??2-AP level recorded...
article 1987
document
Kluft, C. (author), Vellenga, E. (author), Brommer, E.J.P. (author), Wijngaards, G. (author), Gaubius instituut TNO (author)
This study concerns a case of congenital homozygous deficiency in ??2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints...
article 1982
Searched for: subject%3A%22Pedigree%22
(1 - 14 of 14)