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A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. Tesi B, et al. Among authors: burnyte b. J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. J Allergy Clin Immunol. 2018. PMID: 29522846 Free PMC article. No abstract available.
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I. Pelnena D, et al. Among authors: burnyte b. Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Oct;29(7):1115-1120. doi: 10.1080/24701394.2017.1413365. Epub 2017 Dec 12. Mitochondrial DNA A DNA Mapp Seq Anal. 2018. PMID: 29228836
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E, Maldžienė Ž, Mikštienė V, Petraitytė G, Rančelis T, Dapkūnas J, Burnytė B, Benušienė E, Sasnauskienė A, Grikinienė J, Griškevičiūtė E, Utkus A, Preikšaitienė E. Siavrienė E, et al. Among authors: burnyte b. Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526. Medicina (Kaunas). 2022. PMID: 36363484 Free PMC article.
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. Mikstiene V, et al. Among authors: burnyte b. BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9. BMC Genet. 2016. PMID: 26896187 Free PMC article.
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. Aleksiūnienė B, et al. Among authors: burnyte b. Medicine (Baltimore). 2017 Apr;96(16):e6521. doi: 10.1097/MD.0000000000006521. Medicine (Baltimore). 2017. PMID: 28422838 Free PMC article.
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T. Meyer R, et al. Among authors: burnyte b. Orphanet J Rare Dis. 2021 Jan 22;16(1):42. doi: 10.1186/s13023-021-01683-x. Orphanet J Rare Dis. 2021. PMID: 33482836 Free PMC article.
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Grigalionienė K, Burnytė B, Balkelienė D, Ambrozaitytė L, Utkus A. Grigalionienė K, et al. Among authors: burnyte b. Mol Genet Genomic Med. 2023 Jan;11(1):e2059. doi: 10.1002/mgg3.2059. Epub 2022 Oct 1. Mol Genet Genomic Med. 2023. PMID: 36181358 Free PMC article.
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. Malcorps M, et al. Among authors: burnyte b. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. Orphanet J Rare Dis. 2022. PMID: 36242072 Free PMC article.
39 results