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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Bartholdi D, et al. Among authors: kayserili h. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. J Med Genet. 2009. PMID: 19066168 Free article.
Identification of the parental origin of polysomy in two 49,XXXXY cases.
Celik A, Eraslan S, Gökgöz N, Ilgin H, Başaran S, Bökesoy I, Kayserili H, Yüksel-Apak M, Kirdar B. Celik A, et al. Among authors: kayserili h. Clin Genet. 1997 Jun;51(6):426-9. doi: 10.1111/j.1399-0004.1997.tb02504.x. Clin Genet. 1997. PMID: 9237509
Studies on the pathogenesis of Costello syndrome.
Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ. Mancini GM, et al. Among authors: kayserili h. J Med Genet. 2003 Apr;40(4):e37. doi: 10.1136/jmg.40.4.e37. J Med Genet. 2003. PMID: 12676910 Free PMC article. No abstract available.
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Uyguner O, et al. Among authors: kayserili h. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.
278 results