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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: kucinskas v. Medicina (Kaunas). 2023 Jun 29;59(7):1225. doi: 10.3390/medicina59071225. Medicina (Kaunas). 2023. PMID: 37512036 Free PMC article.
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.
Libert F, Cochaux P, Beckman G, Samson M, Aksenova M, Cao A, Czeizel A, Claustres M, de la Rúa C, Ferrari M, Ferrec C, Glover G, Grinde B, Güran S, Kucinskas V, Lavinha J, Mercier B, Ogur G, Peltonen L, Rosatelli C, Schwartz M, Spitsyn V, Timar L, Beckman L, Parmentier M, Vassart G. Libert F, et al. Among authors: kucinskas v. Hum Mol Genet. 1998 Mar;7(3):399-406. doi: 10.1093/hmg/7.3.399. Hum Mol Genet. 1998. PMID: 9466996
Genetic structure of Europeans: a view from the North-East.
Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgár N, Toniolo D, Gasparini P, D'Adamo P, Klovins J, Nikitina-Zake L, Kucinskas V, Kasnauskiene J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julià A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A. Nelis M, et al. Among authors: kucinskas v. PLoS One. 2009;4(5):e5472. doi: 10.1371/journal.pone.0005472. Epub 2009 May 8. PLoS One. 2009. PMID: 19424496 Free PMC article.
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: kucinskas v. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.
159 results