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Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T. Vermeesch JR, et al. Among authors: rumyantseva n. Eur J Med Genet. 2005 Jul-Sep;48(3):319-27. doi: 10.1016/j.ejmg.2005.04.018. Eur J Med Genet. 2005. PMID: 16179227
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
Polityko A, Khurs O, Rumyantseva N, Naumchik I, Kosyakova N, Tönnies H, Sperling K, Neitzel H, Weise A, Liehr T. Polityko A, et al. Among authors: rumyantseva n. Mol Cytogenet. 2010 Mar 8;3:5. doi: 10.1186/1755-8166-3-5. Mol Cytogenet. 2010. PMID: 20211012 Free PMC article.
Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Rumyantseva N, Naumchik I. Polityko AD, et al. Among authors: rumyantseva n. J Histochem Cytochem. 2005 Mar;53(3):361-4. doi: 10.1369/jhc.4A6402.2005. J Histochem Cytochem. 2005. PMID: 15750020
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. Among authors: rumyantseva nv. Am J Med Genet. 1995 Jan 16;55(2):229-36. doi: 10.1002/ajmg.1320550216. Am J Med Genet. 1995. PMID: 7717424 Review.
Further delineation of the branchio-oculo-facial syndrome.
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Lin AE, et al. Among authors: rumyantseva nv. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Am J Med Genet. 1995. PMID: 7747785 Free article. Review.
Trisomy 20p: case report and genetic review.
Lurie IW, Rumyantseva NV, Zaletajev DV, Gurevich DB, Korotkova IA. Lurie IW, et al. Among authors: rumyantseva nv. J Genet Hum. 1985 Jan;33(1):67-75. J Genet Hum. 1985. PMID: 3981145
37 results