| 1 | COH1, GOLGA2, VPS13B
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| Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
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| Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC.
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| J Biol Chem 286(43):37665-75. doi: 10.1074/jbc.M111.267971. Epub 2011 Aug 24.
2011
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| 2 | COH1, VPS13B
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| Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
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| El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L.
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| J Med Genet 47(8):549-53.PMID: 20656880 2010
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| 3 | COH1, VPS13B
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| Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
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| Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.
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| Am J Med Genet A 146A(17):2221-6.
2008
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| 4 | VPS13B, COH1
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| Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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| Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.
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| J Hum Genet 52(12):1011-7. Epub 2007 Nov 8. 2007
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| 5 | VPS13B
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| Delineation of cohen syndrome following a large-scale genotype-phenotype screen.
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| Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Traskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, C M Black G, D C Manson F.
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| Am J Hum Genet 75(1):122-7. Epub 2004 May 12. 2004
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| 6 | VPS13B
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| Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome.
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| Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D.
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| Am J Hum Genet 75(1):138-45. Epub 2004 May 20. 2004
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| 7 | VPS13B
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| Cohen syndrome in the Ohio Amish.
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| Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Traskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML.
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| Am J Med Genet 128A(1):23-8. 2004
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| 8 | VPS13B
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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.
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| Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Traskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, Chapelle Ad Ade L, Lehesjoki AE.
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| Am J Hum Genet 72(6):1359-69. Epub 2003 May 02. 2003
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| 9 | VPS13B
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| Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.
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| Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J.
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| J Med Genet 40(4):233-41. 2003
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| 10 | VPS13B
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| Refined mapping of the Cohen syndrome gene by linkage disequilibrium.
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| Kolehmainen J, Norio R, Kivitie-Kallio S, Tahvanainen E, de la Chapelle A, Lehesjoki AE.
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| Eur J Hum Genet 5(4):206-13. 1997
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| 11 | VPS13B
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| Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
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| Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A.
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| Nat Genet 7(2):201-4. 1994
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