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Page 1
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Lynch SA, Foulds N, Thuresson AC, Collins AL, Annerén G, Hedberg BO, Delaney CA, Iremonger J, Murray CM, Crolla JA, Costigan C, Lam W, Fitzpatrick DR, Regan R, Ennis S, Sharkey F. Lynch SA, et al. Eur J Hum Genet. 2011 May;19(5):534-9. doi: 10.1038/ejhg.2010.215. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267005 Free PMC article.
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. Li F, et al. Among authors: sharkey fh. Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132918
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Among authors: sharkey fh. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.
Chromosome analysis: what and when to request.
Sharkey FH, Maher E, FitzPatrick DR. Sharkey FH, et al. Arch Dis Child. 2005 Dec;90(12):1264-9. doi: 10.1136/adc.2004.068668. Arch Dis Child. 2005. PMID: 16301555 Free PMC article. Review.
21 results