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UNLABELLED We have generated the program easyLINKAGE that combines automated setup and performance of linkage analyses and simulation under an easy to handle graphical user interface for Microsoft Windows 2000/XP and standard UNIX systems. The program package supports two-point linkage analyses (FastLink v4.1 and SPLink v1.09), multi-point linkage analyses(More)
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and(More)
UNLABELLED We extended the original easyLINKAGE program by enabling linkage analyses for large-scale SNP data in addition to those of microsatellites. We implemented new modules for Allegro, Merlin, SimWalk, GeneHunter Imprinting, GeneHunter TwoLocus, SuperLink and extended FastSLink by automatic loop breaking and new outputs. We added conditional linkage(More)
Background—Targeted therapies to stabilize the clinical manifestations and prolong pregnancy in preeclampsia do not exist. Soluble fms-like tyrosine kinase 1 (sFlt-1), an alternatively spliced variant of the vascular endothelial growth factor receptor 1, induces a preeclampsia-like phenotype in experimental models and circulates at elevated levels in human(More)
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndrome and identified eight mutations within(More)
Distal myopathies are a heterogeneous group of disorders characterized by progressive weakness and muscular atrophy, beginning in distal limb muscles and affecting proximal limb muscles at a later stage. We studied a large German kindred with 10 affected members. Weakness and atrophy of the anterior tibial muscles started between the ages of 8 and 16 years,(More)
A parameterization is presented for the optical properties of water clouds in the infrared spectrum. The cloud optical properties are parameterized in terms of the cloud's liquid water content and the effective radius defined from the droplet size distribution. Rational functions are used for the parameterization. The coefficients for the rational functions(More)
Patients on renal replacement therapy are often unaware of their underlying condition and hence suffer from so-called end-stage renal disease (ESRD) of unknown origin. However, an exact diagnosis is not only important for better estimating the prognosis, but also when preparing for kidney transplantation. Whilst patients with FSGS without a confirmed(More)
Genome-wide association studies use hundreds of thousands of markers making it challenging to present and finally interpret the results. We developed a graphical, web-based solution for an interactive exploration of the results of case-control studies, with a tight integration of related gene information and tissue-specific expression data. Association(More)
Complex disorders such as type 2 diabetes or coronary heart disease are of major public interest because they affect millions of individuals. To unravel the genetic background of those traits, genome-wide linkage scans with microsatellite markers have been performed, followed by association studies of single-nucleotide poly-morphisms (SNPs) in the(More)