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Mapping 250K/500K SNP assay

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12 GeneChip ® <strong>Mapping</strong> <strong>500K</strong> Assay Manual<br />

29. Gissen, P., Johnson, C.A., Morgan, N.V., Stapelbroek, J.M.,<br />

Forshew, T., Cooper, W.N., McKiernan, P.J., Klomp, L.W.,<br />

Morris, A.A., Wraith, J.E., McClean, P., Lynch, S.A., Thompson,<br />

R.J., Lo, B., Quarrell, O.W., Di Rocco, M., Trembath, R.C.,<br />

Mandel, H., Wali, S., Karet, F.E., Knisely, A.S., Houwen, R.H.,<br />

Kelly, D.A., Maher, E.R. Mutations in VPS33B, encoding a<br />

regulator of SNARE-dependent membrane fusion, cause<br />

arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.<br />

Nat Genet 36:400-4 (2004).<br />

30. Uhlenberg, B., Schuelke, M., Ruschendorf, F., Ruf, N., Kaindl,<br />

A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu,<br />

F., Topaloglu, H., Nurnberg, P., Hubner, C., Weschke, B.,<br />

Gartner, J. Mutations in the gene encoding gap junction protein<br />

alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.<br />

Am J Hum Genet 75:251-60 (2004).<br />

31. Janecke, A.R., Thompson, D.A., Utermann, G., Becker, C.,<br />

Hubner, C.A., Schmid, E., McHenry, C.L., Nair, A.R.,<br />

Ruschendorf, F., Heckenlively, J., Wissinger, B., Nurnberg, P.,<br />

Gal, A. Mutations in RDH12 encoding a photoreceptor cell<br />

retinol dehydrogenase cause childhood-onset severe retinal<br />

dystrophy. Nat Genet 36:850-4 (2004).<br />

32. Hao, K., Li, C., Rosenow, C., Hung, Wong, W. Estimation of<br />

genotype error rate using samples with pedigree information--an<br />

application on the GeneChip <strong>Mapping</strong> 10K array. Genomics<br />

84:623-30 (2004).<br />

33. Weber, S., Mir, S., Schlingmann, K.P., Nurnberg, G., Becker, C.,<br />

Kara, P.E., Ozkayin, N., Konrad, M., Nurnberg, P., Schaefer, F.<br />

Gene locus ambiguity in posterior urethral valves/prune-belly<br />

syndrome. Pediatr Nephrol 20:1036-1042 (2005).<br />

34. Metherell, L.A., Chapple, J.P., Cooray, S., David, A., Becker, C.,<br />

Ruschendorf, F., Naville, D., Begeot, M., Khoo, B., Nurnberg, P.,<br />

Huebner, A., Cheetham, M.E., Clark, A.J. Mutations in MRAP,<br />

encoding a new interacting partner of the ACTH receptor, cause<br />

familial glucocorticoid deficiency type 2. Nat Genet 37:166-70<br />

(2005).

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