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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM. Huang L, et al. Among authors: chudley ae. Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005. Am J Hum Genet. 2011. PMID: 22152675 Free PMC article.
Paracentric inversion 11q in Canadian Hutterites.
Chodirker BN, Greenberg CR, Pabello PD, Chudley AE. Chodirker BN, et al. Among authors: chudley ae. Hum Genet. 1992 Jun;89(4):450-2. doi: 10.1007/BF00194321. Hum Genet. 1992. PMID: 1618494
Fragile 19p13 in a family with mental illness.
Chodirker BN, Chudley AE, Ray M, Wickstrom DE, Riordan DL. Chodirker BN, et al. Among authors: chudley ae. Clin Genet. 1987 Jan;31(1):1-6. doi: 10.1111/j.1399-0004.1987.tb02759.x. Clin Genet. 1987. PMID: 3568428
Zimmerman-Laband syndrome and profound mental retardation.
Chodirker BN, Chudley AE, Toffler MA, Reed MH. Chodirker BN, et al. Among authors: chudley ae. Am J Med Genet. 1986 Nov;25(3):543-7. doi: 10.1002/ajmg.1320250317. Am J Med Genet. 1986. PMID: 3789014
247 results