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Page 1
Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.
Zebrauskiene D, Sadauskiene E, Dapkunas J, Kairys V, Balciunas J, Konovalovas A, Masiuliene R, Petraityte G, Valeviciene N, Mataciunas M, Barysiene J, Mikstiene V, Tomkuviene M, Preiksaitiene E. Zebrauskiene D, et al. Among authors: mikstiene v. Clin Epigenetics. 2024 Jun 6;16(1):76. doi: 10.1186/s13148-024-01686-y. Clin Epigenetics. 2024. PMID: 38845031 Free PMC article.
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: mikstiene v. Medicina (Kaunas). 2023 Jun 29;59(7):1225. doi: 10.3390/medicina59071225. Medicina (Kaunas). 2023. PMID: 37512036 Free PMC article.
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: mikstiene v. Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526. Medicina (Kaunas). 2022. PMID: 36363484 Free PMC article.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Petraitytė G, Mikštienė V, Siavrienė E, Cimbalistienė L, Maldžienė Ž, Rančelis T, Vaitėnienė EM, Ambrozaitytė L, Dapkūnas J, Dzindzalieta R, Pranckevičienė E, Kučinskas V, Utkus A, Preikšaitienė E. Petraitytė G, et al. Among authors: mikstiene v. Medicina (Kaunas). 2022 Feb 26;58(3):351. doi: 10.3390/medicina58030351. Medicina (Kaunas). 2022. PMID: 35334527 Free PMC article.
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
Siavrienė E, Petraitytė G, Burnytė B, Morkūnienė A, Mikštienė V, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: mikstiene v. BMC Musculoskelet Disord. 2021 Dec 4;22(1):1020. doi: 10.1186/s12891-021-04920-3. BMC Musculoskelet Disord. 2021. PMID: 34863162 Free PMC article.
Genome Editing in Medicine: Tools and Challenges.
Petraitytė G, Preikšaitienė E, Mikštienė V. Petraitytė G, et al. Among authors: mikstiene v. Acta Med Litu. 2021;28(2):205-219. doi: 10.15388/Amed.2021.28.2.8. Epub 2021 Aug 17. Acta Med Litu. 2021. PMID: 35637939 Free PMC article. Review.
21 results