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Discriminating power of localized three-dimensional facial morphology.
Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. Hammond P, et al. Among authors: pober b. Am J Hum Genet. 2005 Dec;77(6):999-1010. doi: 10.1086/498396. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380911 Free PMC article.
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Kantarci S, et al. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632512 Free PMC article.
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE. Finegold DN, et al. Among authors: pober br. Hum Mol Genet. 2001 May 15;10(11):1185-9. doi: 10.1093/hmg/10.11.1185. Hum Mol Genet. 2001. PMID: 11371511
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO. Twigg SR, et al. Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335590 Free PMC article.
113 results