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Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Ophoff RA, et al. Among authors: sandkuijl la. Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28. Am J Hum Genet. 2001. PMID: 11438888 Free PMC article.
Genetic heterogeneity of familial hemiplegic migraine.
Ophoff RA, van Eijk R, Sandkuijl LA, Terwindt GM, Grubben CP, Haan J, Lindhout D, Ferrari MD, Frants RR. Ophoff RA, et al. Among authors: sandkuijl la. Genomics. 1994 Jul 1;22(1):21-6. doi: 10.1006/geno.1994.1340. Genomics. 1994. PMID: 7959770
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.
115 results