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ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ. Babbs C, et al. Among authors: harteveld cl. J Med Genet. 2020 Jun;57(6):414-421. doi: 10.1136/jmedgenet-2019-106528. Epub 2020 Jan 31. J Med Genet. 2020. PMID: 32005695 Free PMC article.
Refinement of the genetic cause of ATR-16.
Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC. Harteveld CL, et al. Hum Genet. 2007 Nov;122(3-4):283-92. doi: 10.1007/s00439-007-0399-y. Epub 2007 Jun 28. Hum Genet. 2007. PMID: 17598130
Alpha-thalassaemia.
Harteveld CL, Higgs DR. Harteveld CL, et al. Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. Orphanet J Rare Dis. 2010. PMID: 20507641 Free PMC article. Review.
Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.
Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL. Clark B, et al. Br J Haematol. 2018 Jan;180(1):160-164. doi: 10.1111/bjh.14294. Epub 2016 Jul 29. Br J Haematol. 2018. PMID: 27469621 Free article. No abstract available.
180 results