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Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: temple ik. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
Partial lipodystrophy syndromes--a further male case.
Reardon W, Temple IK, Mackinnon H, Leonard JV, Baraitser M. Reardon W, et al. Among authors: temple ik. Clin Genet. 1990 Nov;38(5):391-5. doi: 10.1111/j.1399-0004.1990.tb03602.x. Clin Genet. 1990. PMID: 2282720
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: temple ik. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.
An atypical case of hypomethylation at multiple imprinted loci.
Baple EL, Poole RL, Mansour S, Willoughby C, Temple IK, Docherty LE, Taylor R, Mackay DJ. Baple EL, et al. Among authors: temple ik. Eur J Hum Genet. 2011 Mar;19(3):360-2. doi: 10.1038/ejhg.2010.218. Epub 2011 Jan 5. Eur J Hum Genet. 2011. PMID: 21206512 Free PMC article.
223 results