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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Kolehmainen J, et al. Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2. Am J Hum Genet. 2003. PMID: 12730828 Free PMC article.
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Kolehmainen J, et al. Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12. Am J Hum Genet. 2004. PMID: 15141358 Free PMC article.
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2.
Tahvanainen E, Forsius H, Damsten M, Karila E, Kolehmainen J, Weissenbach J, Sistonen P, de la Chapelle A. Tahvanainen E, et al. Among authors: kolehmainen j. Genomics. 1995 Dec 10;30(3):409-14. doi: 10.1006/geno.1995.1258. Genomics. 1995. PMID: 8825624
The genetics of cornea plana congenita.
Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A. Tahvanainen E, et al. Among authors: kolehmainen j. J Med Genet. 1996 Feb;33(2):116-9. doi: 10.1136/jmg.33.2.116. J Med Genet. 1996. PMID: 8929947 Free PMC article.
Cohen syndrome in the Ohio Amish.
Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Falk MJ, et al. Among authors: kolehmainen j. Am J Med Genet A. 2004 Jul 1;128A(1):23-8. doi: 10.1002/ajmg.a.30033. Am J Med Genet A. 2004. PMID: 15211651
Report of the Third International Workshop on Human Chromosome 8 Mapping. San Antonio, Texas, October 25-27, 1996.
Leach RJ, Banga SS, Ben-Othame K, Chughtai S, Clarke R, Daiger SP, Kolehmainen J, Kumar S, Kuo M, Macoska J, Mada N, Naylor SL, Nunes M, O'Connell P, Pebusque MJ, Pekkel V, Porter CJ, Simons CT, Sohocki MM, Trapman J, Wells D, Westbrook C, Wood S. Leach RJ, et al. Among authors: kolehmainen j. Cytogenet Cell Genet. 1996;75(2-3):71-84. doi: 10.1159/000134460. Cytogenet Cell Genet. 1996. PMID: 9040775 No abstract available.
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