Temple IK - Search Results

1

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. Among authors: temple ik. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.

2

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.

Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. Chitty LS, et al. Among authors: temple ik. Am J Med Genet. 1991 Sep 15;40(4):417-20. doi: 10.1002/ajmg.1320400407. Am J Med Genet. 1991. PMID: 1746603 No abstract available.

3

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO. Elanko N, et al. Among authors: temple ik. Hum Mutat. 2001 Dec;18(6):535-41. doi: 10.1002/humu.1230. Hum Mutat. 2001. PMID: 11748846

4

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Lachlan KL, Temple IK, Mumford AD. Lachlan KL, et al. Among authors: temple ik. Eur J Hum Genet. 2004 Oct;12(10):790-6. doi: 10.1038/sj.ejhg.5201252. Eur J Hum Genet. 2004. PMID: 15280904

5

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S. Kalidas K, et al. Among authors: temple ik. J Hum Genet. 2005;50(1):21-25. doi: 10.1007/s10038-004-0212-x. Epub 2004 Dec 10. J Hum Genet. 2005. PMID: 15690106

6

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Turner C, Lachlan K, Amerasinghe N, Hodgkins P, Maloney V, Barber J, Temple IK. Turner C, et al. Among authors: temple ik. Eur J Hum Genet. 2005 Jun;13(6):716-20. doi: 10.1038/sj.ejhg.5201377. Eur J Hum Genet. 2005. PMID: 15785777

7

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

Ismail AR, Lachlan KL, Mumford AD, Temple IK, Hodgkins PR. Ismail AR, et al. Among authors: temple ik. Eur J Ophthalmol. 2006 Jan-Feb;16(1):153-60. doi: 10.1177/112067210601600125. Eur J Ophthalmol. 2006. PMID: 16496261

8

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Lachlan KL, et al. Among authors: temple ik. J Med Genet. 2007 Sep;44(9):579-85. doi: 10.1136/jmg.2007.049981. Epub 2007 May 25. J Med Genet. 2007. PMID: 17526800 Free PMC article.

9

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Benko S, et al. Among authors: temple ik. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473

10

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ. Poole RL, et al. Among authors: temple ik. Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863054 Free PMC article.

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