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1,887 results

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Page 1
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE. Kraan CM, et al. Among authors: field m. Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595813 Free article.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: field m. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.
Maternal attitudes to newborn screening for fragile X syndrome.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. Christie L, et al. Among authors: field m. Am J Med Genet A. 2013 Feb;161A(2):301-11. doi: 10.1002/ajmg.a.35752. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303663
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE. Inaba Y, et al. Among authors: field m. Clin Chem. 2014 Jul;60(7):963-73. doi: 10.1373/clinchem.2013.217331. Epub 2014 Apr 28. Clin Chem. 2014. PMID: 24778142
Fragile X protein in newborn dried blood spots.
Adayev T, LaFauci G, Dobkin C, Caggana M, Wiley V, Field M, Wotton T, Kascsak R, Nolin SL, Glicksman A, Hosmer N, Brown WT. Adayev T, et al. Among authors: field m. BMC Med Genet. 2014 Oct 28;15:119. doi: 10.1186/s12881-014-0119-0. BMC Med Genet. 2014. PMID: 25348928 Free PMC article.
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. Corbett MA, et al. Among authors: field m. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612912
Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial.
Quinn VF, Meiser B, Kirk J, Tucker KM, Watts KJ, Rahman B, Peate M, Saunders C, Geelhoed E, Gleeson M, Barlow-Stewart K, Field M, Harris M, Antill YC, Cicciarelli L, Crowe K, Bowen MT, Mitchell G. Quinn VF, et al. Among authors: field m. Genet Med. 2017 Apr;19(4):448-456. doi: 10.1038/gim.2016.130. Epub 2016 Sep 29. Genet Med. 2017. PMID: 27684037 Free article. Clinical Trial.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE. Arpone M, et al. Among authors: field m. Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x. Sci Rep. 2018. PMID: 29483611 Free PMC article.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T. Ewans LJ, et al. Among authors: field m. Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595814 Free article.
1,887 results