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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: hutter cm. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
Zabetian CP, Hutter CM, Yearout D, Lopez AN, Factor SA, Griffith A, Leis BC, Bird TD, Nutt JG, Higgins DS, Roberts JW, Kay DM, Edwards KL, Samii A, Payami H. Zabetian CP, et al. Among authors: hutter cm. Am J Hum Genet. 2006 Oct;79(4):752-8. doi: 10.1086/508025. Epub 2006 Aug 17. Am J Hum Genet. 2006. PMID: 16960813 Free PMC article.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. Jarvik GP, et al. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814192 Free PMC article.
Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease.
Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A, Roberts JW, Leis BC, Kay DM, Yearout D, Montimurro JS, Edwards KL, Samii A, Payami H. Zabetian CP, et al. Among authors: hutter cm. Ann Neurol. 2007 Aug;62(2):137-44. doi: 10.1002/ana.21157. Ann Neurol. 2007. PMID: 17514749 Free PMC article.
Orbital compartment syndrome in burn patients.
Singh CN, Klein MB, Sullivan SR, Sires BS, Hutter CM, Rice K, Jian-Amadi A. Singh CN, et al. Among authors: hutter cm. Ophthalmic Plast Reconstr Surg. 2008 Mar-Apr;24(2):102-6. doi: 10.1097/IOP.0b013e318163d2fb. Ophthalmic Plast Reconstr Surg. 2008. PMID: 18356713
Genome-wide linkage scan for the metabolic syndrome: the GENNID study.
Edwards KL, Hutter CM, Wan JY, Kim H, Monks SA. Edwards KL, et al. Among authors: hutter cm. Obesity (Silver Spring). 2008 Jul;16(7):1596-601. doi: 10.1038/oby.2008.236. Epub 2008 Apr 17. Obesity (Silver Spring). 2008. PMID: 18421265 Free article.
Association mapping of the PARK10 region for Parkinson's disease susceptibility genes.
Wan JY, Edwards KL, Hutter CM, Mata IF, Samii A, Roberts JW, Agarwal P, Checkoway H, Farin FM, Yearout D, Zabetian CP. Wan JY, et al. Among authors: hutter cm. Parkinsonism Relat Disord. 2014 Jan;20(1):93-8. doi: 10.1016/j.parkreldis.2013.10.001. Epub 2013 Oct 11. Parkinsonism Relat Disord. 2014. PMID: 24156912 Free PMC article.
213 results