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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
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.
Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526.
Medicina (Kaunas). 2022.
PMID: 36363484
Free PMC article.
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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: siavriene e.
Medicina (Kaunas). 2022 Feb 26;58(3):351. doi: 10.3390/medicina58030351.
Medicina (Kaunas). 2022.
PMID: 35334527
Free PMC article.
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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.
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.
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Siavrienė E, Preikšaitienė E, Maldžienė Ž, Mikštienė V, Rančelis T, Ambrozaitytė L, Gueneau L, Reymond A, Kučinskas V.
Siavrienė E, et al.
Gene. 2020 Aug 30;753:144816. doi: 10.1016/j.gene.2020.144816. Epub 2020 May 27.
Gene. 2020.
PMID: 32473250
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De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Pranckėnienė L, Siavrienė E, Gueneau L, Preikšaitienė E, Mikštienė V, Reymond A, Kučinskas V.
Pranckėnienė L, et al. Among authors: siavriene e.
Mol Genet Genomic Med. 2019 Dec;7(12):e1006. doi: 10.1002/mgg3.1006. Epub 2019 Oct 19.
Mol Genet Genomic Med. 2019.
PMID: 31628733
Free PMC article.
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Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E, Mikštienė V, Radzevičius D, Maldžienė Ž, Rančelis T, Petraitytė G, Tamulytė G, Kavaliauskienė I, Šarkinas L, Utkus A, Kučinskas V, Preikšaitienė E.
Siavrienė E, et al.
Mol Genet Genomic Med. 2019 Sep;7(9):e878. doi: 10.1002/mgg3.878. Epub 2019 Jul 20.
Mol Genet Genomic Med. 2019.
PMID: 31325247
Free PMC article.
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A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E.
Siavrienė E, et al.
BMC Med Genet. 2019 Jul 17;20(1):127. doi: 10.1186/s12881-019-0859-y.
BMC Med Genet. 2019.
PMID: 31315586
Free PMC article.
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