L
Lodewijk A. Sandkuijl
Researcher at Leiden University Medical Center
Publications - 55
Citations - 5561
Lodewijk A. Sandkuijl is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Locus (genetics) & Genetic linkage. The author has an hindex of 36, co-authored 55 publications receiving 5406 citations. Previous affiliations of Lodewijk A. Sandkuijl include Erasmus University Rotterdam.
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Journal ArticleDOI
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Omer T. Njajou,Norbert Vaessen,Marijke Joosse,Berghuis B,van Dongen Jw,Martijn H. Breuning,P.J.L.M. Snijders,Rutten Wp,Lodewijk A. Sandkuijl,Ben A. Oostra,van Duijn Cm,Peter Heutink +11 more
TL;DR: A mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.
Journal ArticleDOI
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Yvonne M.C. Hendriks,Anja Wagner,Hans Morreau,Fred H. Menko,Astrid Stormorken,Franz Quehenberger,Lodewijk A. Sandkuijl,Pål Møller,Maurizio Genuardi,Hans C. van Houwelingen,Carli M. J. Tops,Marjo van Puijenbroek,Paul Verkuijlen,Gemma G. Kenter,Anneke M. van Mil,Hanne Meijers-Heijboer,Gita B Tan,Martijn H. Breuning,Riccardo Fodde,Juul T. Wijnen,A H J T Bröcker-Vriends,Hans F. A. Vasen +21 more
TL;DR: The aim of this study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers, and recommended starting colonoscopic surveillance in female MSH 6 mutation carriers from age 30 years.
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PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
C M van Duijn,Marieke C. J. Dekker,Vincenzo Bonifati,R.J. Galjaard,Jeanine J. Houwing-Duistermaat,P.J.L.M. Snijders,Leon Testers,Guido J. Breedveld,Martin W.I.M. Horstink,Lodewijk A. Sandkuijl,J. C. van Swieten,B.A. Oostra,Peter Heutink +12 more
TL;DR: It is concluded that on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism is identified.
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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
Petra G.M. van Overveld,Richard J F L Lemmers,Lodewijk A. Sandkuijl,Leo Enthoven,Sara T. Winokur,F. Bakels,George W. Padberg,Gert-Jan B. van Ommen,Rune R. Frants,Silvère M. van der Maarel +9 more
TL;DR: Results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.
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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.
TL;DR: Linkage disequilibrium studies have significantly increased the informativeness of the analyses and helped to locate the critical DNA region for the APECED locus to just 500 kilobases, a much more precise definition than linkage analyses alone could achieve.