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A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. Among authors: olney ah. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
Mapping of the human complement factor I gene to 4q25.
Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH, Sanger WG, Goldberger G. Shiang R, et al. Among authors: olney ah. Genomics. 1989 Jan;4(1):82-6. doi: 10.1016/0888-7543(89)90318-2. Genomics. 1989. PMID: 2563353
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. Milewicz DM, et al. Among authors: olney ah. Am J Med Genet A. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657. Am J Med Genet A. 2010. PMID: 20734336 Free PMC article.
18q22.3 --> 18q23 deletion syndrome and cleft palate.
Eudy JD, Pickering DL, Lutz R, Platt K, Dave BJ, Olney AH, Sanger WG. Eudy JD, et al. Among authors: olney ah. Am J Med Genet A. 2010 Apr;152A(4):1046-8. doi: 10.1002/ajmg.a.33336. Am J Med Genet A. 2010. PMID: 20358626 No abstract available.
In memory of Murray Feingold (1930-2015).
Schaefer GB, Nowak CB, Olney AH. Schaefer GB, et al. Among authors: olney ah. Am J Med Genet A. 2016 Jul;170(7):1727-31. doi: 10.1002/ajmg.a.37729. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27149416 No abstract available.
Turner syndrome.
Olney AH, Schaefer GB. Olney AH, et al. Ear Nose Throat J. 1998 Oct;77(10):812. Ear Nose Throat J. 1998. PMID: 9818531 No abstract available.
57 results