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Page 1
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Among authors: naumchik i. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.
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: naumchik i. Mol Cytogenet. 2010 Mar 8;3:5. doi: 10.1186/1755-8166-3-5. Mol Cytogenet. 2010. PMID: 20211012 Free PMC article.
Heteromorphic variants of chromosome 9.
Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H, Aroutiounian R, Polityko AD, Kulpanovich AI, Egorova T, Jaroshevich E, Frolova A, Shorokh N, Naumchik IV, Volleth M, Schreyer I, Nelle H, Stumm M, Wegner RD, Reising-Ackermann G, Merkas M, Brecevic L, Martin T, Rodríguez L, Bhatt S, Ziegler M, Kreskowski K, Weise A, Sazci A, Vorsanova S, Cioffi Mde B, Ergul E. Kosyakova N, et al. Among authors: naumchik iv. Mol Cytogenet. 2013 Apr 1;6(1):14. doi: 10.1186/1755-8166-6-14. Mol Cytogenet. 2013. PMID: 23547710 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: naumchik i. J Histochem Cytochem. 2005 Mar;53(3):361-4. doi: 10.1369/jhc.4A6402.2005. J Histochem Cytochem. 2005. PMID: 15750020
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: naumchik i. 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
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: naumchik iv. 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: naumchik iv. 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.
[Translocation 11q;22q: a clinico-cytogenetic study].
Lur'e IV, Rumiantseva NV, Podleshchuk LV, Kozlova SI, Kulak VD, Naumchik IV, Gorelik LB, Zolotukhina TV, Kuznetsov MI. Lur'e IV, et al. Among authors: naumchik iv. Genetika. 1992 Oct;28(10):129-35. Genetika. 1992. PMID: 1468637 Russian.
18 results