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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: lurie iw. 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.
Maternal uniparental disomy 7--review and further delineation of the phenotype.
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: lurie iw. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928
Trisomy 2p: analysis of unusual phenotypic findings.
Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hoeller A, Schinzel A. Lurie IW, et al. Am J Med Genet. 1995 Jan 16;55(2):229-36. doi: 10.1002/ajmg.1320550216. Am J Med Genet. 1995. PMID: 7717424 Review.
Chromosomal map of human brain malformations.
Tyshchenko N, Lurie I, Schinzel A. Tyshchenko N, et al. Hum Genet. 2008 Aug;124(1):73-80. doi: 10.1007/s00439-008-0528-2. Epub 2008 Jun 18. Hum Genet. 2008. PMID: 18563447 Free article.
Isochromosome 18p results from maternal meiosis II nondisjunction.
Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Höller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. Kotzot D, et al. Among authors: lurie iw. Eur J Hum Genet. 1996;4(3):168-74. doi: 10.1159/000472191. Eur J Hum Genet. 1996. PMID: 8840117
99 results