Lodewijk A. Sandkuijl
Leiden University Medical Center
55 Papers
637 Citations
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. Previous affiliations of Lodewijk A. Sandkuijl include Erasmus University Rotterdam.
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Papers
Cdkn2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (fammm) syndrome families
TL;DR: Combined multi-point linkage analysis in seven Dutch families with FAMMM syndrome confirmed the location of a melanoma susceptibility (MLM) gene in the 9p21 area and the occurrence of a shared high-risk haplotype in six of the families strongly suggests a founder effect in the Leiden region.
109
•Journal Article
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.
Huda Y. Zoghbi,C. Jodice,Lodewijk A. Sandkuijl,Thomas J. Kwiatkowski,Alanna E. McCall,Huntoon Sa,P Lulli,Maria Spadaro,Litt M,Howard M. Cann +9 more
TL;DR: Analysis of HSCA1 recombinants in this region of chromosome 6 revealed relatively high recombination frequencies between HLA and each of the other two markers and relatively low frequencies between the latter and SCA1, predicting that the SCA 1 locus would tend to segregate away from HLA together with D6S89 or TCTE1.
107
Clinical and genetic heterogeneity in benign hereditary chorea.
Guido J. Breedveld,Alan K. Percy,Marcy E. MacDonald,B. B. A. De Vries,Christos Yapijakis,Leon S. Dure,E. F. Ippel,Lodewijk A. Sandkuijl,Peter Heutink,Willem F. M. Arts +9 more
TL;DR: BHC is a clinically and genetically heterogeneous disorder, with one well-defined clinical syndrome mapping to chromosome 14q, and in the unlinked families, symptoms and signs were more heterogeneous as to age at onset and the occurrence of myoclonic jerks or dystonia.
76
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Peter Heutink,T. Haitjema,Guido J. Breedveld,Bart Janssen,Lodewijk A. Sandkuijl,Carola Bontekoe,C. J. J. Westerman,Ben A. Oostra +7 more
TL;DR: It is concluded that HHT is a genetically heterogeneous disorder and the results indicate that the presence of PAVM may be more common in patients with a chromosome 9 linked form of HHT than in Patients with the non-linked form.
75
•Journal Article
Incorrect specification of marker allele frequencies: effects on linkage analysis.
TL;DR: Before linkage analyses are performed for specific pedigrees, it is recommended that simulation analyses be performed, followed by uncertainty and sensitivity analyses, because identification of erroneous frequencies may result in false-positive evidence for linkage.
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