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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: joosse m. 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.
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. Njajou OT, et al. Among authors: joosse m. Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038. Nat Genet. 2001. PMID: 11431687
Mutations in TITF-1 are associated with benign hereditary chorea.
Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Breedveld GJ, et al. Among authors: joosse m. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: joosse m. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422
68 results