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Amniocytes can serve a dual function as a source of iPS cells and feeder layers.
Anchan RM, Quaas P, Gerami-Naini B, Bartake H, Griffin A, Zhou Y, Day D, Eaton JL, George LL, Naber C, Turbe-Doan A, Park PJ, Hornstein MD, Maas RL. Anchan RM, et al. Hum Mol Genet. 2011 Mar 1;20(5):962-74. doi: 10.1093/hmg/ddq542. Epub 2010 Dec 14. Hum Mol Genet. 2011. PMID: 21156717 Free PMC article.
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Saadi I, et al. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21703590 Free PMC article.
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. Lu W, et al. PLoS Genet. 2007 May 25;3(5):e80. doi: 10.1371/journal.pgen.0030080. PLoS Genet. 2007. PMID: 17530927 Free PMC article.
26 results