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1.

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.

Pranckėnienė L, Preikšaitienė E, Gueneau L, Reymond A, Kučinskas V.

Genomics Insights. 2019 Apr 2;12:1178631019839010. doi: 10.1177/1178631019839010. eCollection 2019.

2.

Insights Into de novo Mutation Variation in Lithuanian Exome.

Pranckėnienė L, Jakaitienė A, Ambrozaitytė L, Kavaliauskienė I, Kučinskas V.

Front Genet. 2018 Aug 14;9:315. doi: 10.3389/fgene.2018.00315. eCollection 2018.

3.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R.

Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

4.

Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Baronas K, Rančelis T, Pranculis A, Domarkienė I, Ambrozaitytė L, Kučinskas V.

Acta Med Litu. 2018;25(1):7-13. doi: 10.6001/actamedica.v25i1.3698.

5.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

6.

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Stavusis J, Inashkina I, Lace B, Pelnena D, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M, Erenpreiss J.

Hum Hered. 2016;82(3-4):140-146. doi: 10.1159/000481434. Epub 2017 Nov 2.

PMID:
29131013
7.

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

Tumiene B, Čiuladaitė Ž, Preikšaitienė E, Mameniškienė R, Utkus A, Kučinskas V.

J Appl Genet. 2017 Nov;58(4):467-474. doi: 10.1007/s13353-017-0408-3. Epub 2017 Sep 21.

PMID:
28933030
8.

Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

Rančelis T, Arasimavičius J, Ambrozaitytė L, Kavaliauskienė I, Domarkienė I, Karčiauskaitė D, Kučinskienė ZA, Kučinskas V.

Genet Res (Camb). 2017 Aug 30;99:e6. doi: 10.1017/S0016672317000040.

PMID:
28851476
9.

The most common technologies and tools for functional genome analysis.

Gasperskaja E, Kučinskas V.

Acta Med Litu. 2017;24(1):1-11. doi: 10.6001/actamedica.v24i1.3457.

10.

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Aleksiūnienė B, Matulevičiūtė R, Matulevičienė A, Burnytė B, Krasovskaja N, Ambrozaitytė L, Mikštienė V, Dirsė V, Utkus A, Kučinskas V.

Medicine (Baltimore). 2017 Apr;96(16):e6521. doi: 10.1097/MD.0000000000006521.

11.

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.

Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V.

Balkan J Med Genet. 2017 Mar 8;19(2):95-100. doi: 10.1515/bjmg-2016-0043. eCollection 2016 Dec 1.

12.

Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study.

Burokienė N, Domarkienė I, Ambrozaitytė L, Uktverytė I, Meškienė R, Karčiauskaitė D, Kasiulevičius V, Šapoka V, Kučinskas V, Kučinskienė ZA.

Adv Med Sci. 2017 Mar;62(1):121-128. doi: 10.1016/j.advms.2016.08.005. Epub 2017 Feb 27.

PMID:
28242483
13.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Maldžienė Ž, Preikšaitienė E, Ignotienė S, Kapitanova N, Utkus A, Kučinskas V.

Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23.

PMID:
28226328
14.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

15.

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Tumienė B, Voisin N, Preikšaitienė E, Petroška D, Grikinienė J, Samaitienė R, Utkus A, Reymond A, Kučinskas V.

Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9.

PMID:
28089741
16.

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V.

Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23.

PMID:
27880066
17.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172595.

18.

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes.

Gineviciene V, Jakaitiene A, Aksenov MO, Aksenova AV, Druzhevskaya AM, Astratenkova IV, Egorova ES, Gabdrakhmanova LJ, Tubelis L, Kucinskas V, Utkus A.

Biol Sport. 2016 Sep;33(3):199-206. doi: 10.5604/20831862.1201051. Epub 2016 May 3.

19.

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.

Preiksaitiene E, Benušienė E, Ciuladaite Z, Šliužas V, Mikštienė V, Kučinskas V.

Taiwan J Obstet Gynecol. 2016 Jun;55(3):410-4. doi: 10.1016/j.tjog.2016.04.018.

20.

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T.

Clin Genet. 2017 Jan;91(1):73-78. doi: 10.1111/cge.12803. Epub 2016 Jun 30.

PMID:
27172843
21.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.

BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z.

22.

CNV analysis in the Lithuanian population.

Urnikyte A, Domarkiene I, Stoma S, Ambrozaityte L, Uktveryte I, Meskiene R, Kasiulevičius V, Burokiene N, Kučinskas V.

BMC Genet. 2016 May 4;17(1):64. doi: 10.1186/s12863-016-0373-6.

23.

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T.

BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.

24.

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A.

BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9.

25.

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.

Preikšaitienė E, Ambrozaitytė L, Maldžienė Ž, Morkūnienė A, Cimbalistienė L, Rančelis T, Utkus A, Kučinskas V.

Acta Med Litu. 2016;23(2):73-85. doi: 10.6001/actamedica.v23i2.3324.

26.

Heterogeneity of nutritional habits of Lithuanian ethnolinguistic groups: population-based study.

Jakaitienė A, Austys D, Burokienė N, Kasiulevičius V, Stukas R, Kučinskas V.

Acta Med Litu. 2016;23(2):63-72. doi: 10.6001/actamedica.v23i2.3323.

27.

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

Preiksaitiene E, Benušienė E, Matulevičienė A, Grigalionienė K, Utkus A, Kučinskas V.

Am J Med Genet A. 2016 Mar;170(3):781-4. doi: 10.1002/ajmg.a.37466. Epub 2015 Nov 24. No abstract available.

PMID:
26602066
28.

Y-Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern-Baltic Region.

Pliss L, Timša L, Rootsi S, Tambets K, Pelnena I, Zole E, Puzuka A, Sabule A, Rozane S, Lace B, Kucinskas V, Krumina A, Ranka R, Baumanis V.

Ann Hum Genet. 2015 Nov;79(6):418-30. doi: 10.1111/ahg.12130. Epub 2015 Sep 28.

29.

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.

Matulevičienė A, Meškienė R, Morkūnienė A, Ambrozaitytė L, Meškauskas R, Garunkštienė R, Drazdienė N, Utkus A, Kučinskas V.

Clin Dysmorphol. 2016 Jan;25(1):7-11. doi: 10.1097/MCD.0000000000000100.

PMID:
26379196
30.

Challenges in exome analysis by LifeScope and its alternative computational pipelines.

Pranckevičiene E, Rančelis T, Pranculis A, Kučinskas V.

BMC Res Notes. 2015 Sep 7;8:421. doi: 10.1186/s13104-015-1385-4.

31.

Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data.

Kushniarevich A, Utevska O, Chuhryaeva M, Agdzhoyan A, Dibirova K, Uktveryte I, Möls M, Mulahasanovic L, Pshenichnov A, Frolova S, Shanko A, Metspalu E, Reidla M, Tambets K, Tamm E, Koshel S, Zaporozhchenko V, Atramentova L, Kučinskas V, Davydenko O, Goncharova O, Evseeva I, Churnosov M, Pocheshchova E, Yunusbayev B, Khusnutdinova E, Marjanović D, Rudan P, Rootsi S, Yankovsky N, Endicott P, Kassian A, Dybo A; Genographic Consortium, Tyler-Smith C, Balanovska E, Metspalu M, Kivisild T, Villems R, Balanovsky O.

PLoS One. 2015 Sep 2;10(9):e0135820. doi: 10.1371/journal.pone.0135820. eCollection 2015.

32.

Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Čiuladaitė Ž, Burnytė B, Vansevičiūtė D, Dagytė E, Kučinskas V, Utkus A.

Mol Cytogenet. 2015 Apr 21;8:29. doi: 10.1186/s13039-015-0124-9. eCollection 2015.

33.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.

Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.

PMID:
25900314
34.

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Kempa I, Ambrozaitytė L, Stavusis J, Akota I, Barkane B, Krumina A, Matulevičienė A, Utkus A, Kučinskas V, Lace B.

Stomatologija. 2014;16(3):94-101.

35.

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.

Ciuladaite Z, Preiksaitiene E, Utkus A, Kučinskas V.

Cytogenet Genome Res. 2014;144(2):109-13. doi: 10.1159/000368863. Epub 2014 Nov 15.

PMID:
25401700
36.

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

Knappskog S, Gansmo LB, Dibirova K, Metspalu A, Cybulski C, Peterlongo P, Aaltonen L, Vatten L, Romundstad P, Hveem K, Devilee P, Evans GD, Lin D, Van Camp G, Manolopoulos VG, Osorio A, Milani L, Ozcelik T, Zalloua P, Mouzaya F, Bliznetz E, Balanovska E, Pocheshkova E, Kučinskas V, Atramentova L, Nymadawa P, Titov K, Lavryashina M, Yusupov Y, Bogdanova N, Koshel S, Zamora J, Wedge DC, Charlesworth D, Dörk T, Balanovsky O, Lønning PE.

Oncotarget. 2014 Sep 30;5(18):8223-34.

37.

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Preiksaitiene E, Krasovskaja N, Utkus A, Kasnauskiene J, Meškienė R, Paulauskiene I, Valevičienė NR, Kučinskas V.

Clin Dysmorphol. 2015 Jan;24(1):7-12. doi: 10.1097/MCD.0000000000000059.

PMID:
25304119
38.

Ancient human genomes suggest three ancestral populations for present-day Europeans.

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X-linked ichthyosis: differential diagnosis of low maternal oestriol level.

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J Obstet Gynaecol. 2014 Nov;34(8):737-9. doi: 10.3109/01443615.2014.925857. Epub 2014 Jun 24. Review. No abstract available.

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RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.

Domarkienė I, Pranculis A, Germanas S, Jakaitienė A, Vitkus D, Dženkevičiūtė V, Kučinskienė Z, Kučinskas V.

Balkan J Med Genet. 2013 Dec;16(2):17-22. doi: 10.2478/bjmg-2013-0026.

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Considering specific clinical features as evidence of pathogenic copy number variants.

Preiksaitiene E, Molytė A, Kasnauskiene J, Ciuladaite Z, Utkus A, Patsalis PC, Kučinskas V.

J Appl Genet. 2014 May;55(2):189-96. doi: 10.1007/s13353-014-0197-x. Epub 2014 Feb 18.

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Variation in the ACE, PPARGC1A and PPARA genes in Lithuanian football players.

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Eur J Sport Sci. 2014;14 Suppl 1:S289-95. doi: 10.1080/17461391.2012.691117. Epub 2012 May 31.

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Array CGH analysis of a cohort of Russian patients with intellectual disability.

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Heterogeneity of oral clefts in relation to associated congenital anomalies.

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Medicina (Kaunas). 2013;49(2):61-6.

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A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Utkus A, Peciulyte A, Kučinskas V.

Am J Med Genet A. 2013 Jun;161A(6):1487-90. doi: 10.1002/ajmg.a.35911. Epub 2013 Apr 30.

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Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.

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J Child Neurol. 2014 Mar;29(3):399-405. doi: 10.1177/0883073812471429. Epub 2013 Jan 22.

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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.

Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P.

Eur J Hum Genet. 2013 Jun;21(6):659-65. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19.

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Reconstructing the population history of European Romani from genome-wide data.

Mendizabal I, Lao O, Marigorta UM, Wollstein A, Gusmão L, Ferak V, Ioana M, Jordanova A, Kaneva R, Kouvatsi A, Kučinskas V, Makukh H, Metspalu A, Netea MG, de Pablo R, Pamjav H, Radojkovic D, Rolleston SJ, Sertic J, Macek M Jr, Comas D, Kayser M.

Curr Biol. 2012 Dec 18;22(24):2342-9. doi: 10.1016/j.cub.2012.10.039. Epub 2012 Dec 6.

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Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.

Kasnauskiene J, Cimbalistiene L, Utkus A, Ciuladaite Z, Preiksaitiene E, Pečiulytė A, Kučinskas V.

Cytogenet Genome Res. 2013;139(1):52-8. doi: 10.1159/000342544. Epub 2012 Oct 2.

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A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.

Eur J Med Genet. 2012 Nov;55(11):656-9. doi: 10.1016/j.ejmg.2012.07.008. Epub 2012 Jul 27.

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