Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146—-gln) variant results in a dominant mode of inheritance.

Autor: M Smit, P de Knijff, E van der Kooij-Meijs, C Groenendijk, AM van den Maagdenberg, JA Gevers Leuven, AF Stalenhoef, PM Stuyt, RR Frants, LM Havekes

Publikováno v: Journal of Lipid Research, Vol 31, Iss 1, Pp 45-53 (1990)

As determined by isoelectric focusing, most patients with familial dysbetalipoproteinemia (FD) exhibit the homozygous apolipoprotein (apo) E2E2 phenotype. Only rarely does FD develop in the more common heterozygous phenotypes E3E2 or E4E2. In fact, o

Externí odkaz: https://doaj.org/article/f9489dbda100486a85cd88f2a218192b

Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma

Autor: Pa, Velden, Ja, Metzelaar-Blok, Bergman W, Monique H, Hurks H, Rr, Frants, Nelleke Gruis, Mj, Jager

Publikováno v: Europe PubMed Central

Tumors often display unrestricted cell cycling attributable to a dysfunctional G(1)-S checkpoint. One of the mechanisms leading to such a defect is the inactivation of the cyclin-dependent kinase inhibitor p16(INK4a). Although inactivation of p16(INK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fcdc54252bafdfee958d540c04c1c12e
https://pubmed.ncbi.nlm.nih.gov/11431374

Genetic evidence for fetal origin of transcobalamin II in human cord blood

Autor: HJ Porck, M Frater-Schroder, RR Frants, L Kierat, AW Eriksson

Publikováno v: Blood. 62(1)

Phenotypes of transcobalamin II (TC2) were determined in 95 maternal- cord serum pairs in order to identify the origin of TC2 in human cord blood. Unsaturated (apo) TC2 in serum was labeled with radioactive (57Co) cobalamin (CbI) and separated into i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d635c3efe51c21a1f8341d5f2b0cdb5
https://pubmed.ncbi.nlm.nih.gov/6860794

Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come?

Autor: Nelleke Gruis, Pa, Velden, Bergman W, Rr, Frants

Publikováno v: Europe PubMed Central

By the genetic localization of the first melanoma susceptibility gene on chromosome 1p we thought that the puzzle on familial melanoma families would soon be solved. Now, almost fifteen years later we have learned that inherited melanoma is not a sim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6a132891f99610cf1bb39318a42037e0
http://europepmc.org/abstract/med/9752270

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Autor: Stam AH; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands., Kothari PH; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Shaikh A; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Gschwendter A; Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians Universität, D-81377 München, Germany., Jen JC; Department of Neurology, University of California at Los Angeles, Los Angeles, California 90095, USA., Hodgkinson S; Department of Neurology, Liverpool Hospital, Liverpool, New South Wales 2170, Australia., Hardy TA; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales 2139, Australia.; Brain and Mind Centre, University of Sydney, Australia., Hayes M; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales 2139, Australia., Kempster PA; Neurosciences Department, Monash Medical Centre, Clayton, Victoria 3168, Australia., Kotschet KE; Neurosciences Department, Monash Medical Centre, Clayton, Victoria 3168, Australia., Bajema IM; Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands., van Duinen SG; Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands., Maat-Schieman MLC; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands., de Jong PTVM; Department of Ophthalmology, Academic Medical Centre, 1100 DD Amsterdam, The Netherlands.; Department of Retinal Signaling, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1000 GC Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, The Netherlands., de Smet MD; Department of Ophthalmology, Academic Medical Centre, 1100 DD Amsterdam, The Netherlands., de Wolff-Rouendaal D; Department of Ophthalmology, Leiden University Medical Centre, Leiden, The Netherlands., Dijkman G; Department of Ophthalmology, Leiden University Medical Centre, Leiden, The Netherlands., Pelzer N; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands., Kolar GR; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Schmidt RE; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Lacey J; West County Radiology Group, Mercy Hospital in St Louis, MO 63141, USA., Joseph D; The Retina Institute, Department of Ophthalmology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Fintak DR; The Retina Institute, Department of Ophthalmology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Grand MG; The Retina Institute, Department of Ophthalmology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Brunt EM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Liapis H; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, 63110 USA., Hajj-Ali RA; Department of Rheumatic and Immunologic Disease, Cleveland Clinic, Cleveland, Ohio, 44195 USA., Kruit MC; Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands., van Buchem MA; Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands., Dichgans M; Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians Universität, D-81377 München, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Frants RR; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van den Maagdenberg AMJM; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Haan J; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Neurology, Alrijne Hospital, Leiderdorp, The Netherlands., Baloh RW; Department of Neurology, University of California at Los Angeles, Los Angeles, California 90095, USA., Atkinson JP; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Terwindt GM; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands., Ferrari MD; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.

Publikováno v: Brain : a journal of neurology [Brain] 2016 Nov 01; Vol. 139 (11), pp. 2909-2922.