Detalhe da pesquisa
1.
Putative protective genomic variation in the Lithuanian population.
Genet Mol Biol
; 47(2): e20230030, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626572
2.
Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster.
Curr Issues Mol Biol
; 45(4): 2972-2983, 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185719
3.
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Medicina (Kaunas)
; 59(7)2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37512036
4.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Medicina (Kaunas)
; 58(3)2022 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35334527
5.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
6.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Am J Med Genet A
; 182(3): 536-542, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833209
7.
Analysis of Lithuanian CYP2D6 polymorphism and its relevance to psychiatric care of the local population.
Nord J Psychiatry
; 73(1): 31-35, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661435
8.
A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
Cytogenet Genome Res
; 154(1): 6-11, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29421787
9.
Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
Genet Res (Camb)
; 99: e6, 2017 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851476
10.
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
BMC Med Genet
; 17: 20, 2016 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969265
11.
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
BMC Genet
; 17: 45, 2016 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26896187
12.
Higher levels of plasma Adrenocorticotropic hormone (ACTH) are associated with lower suicidal ideation in depressed patients compared to controls and suicide attempters, independently from depression severity.
Compr Psychoneuroendocrinol
; 19: 100235, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737407
13.
Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics.
Genes (Basel)
; 14(8)2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628681
14.
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Orphanet J Rare Dis
; 18(1): 307, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37784170
15.
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Mol Genet Genomic Med
; 11(1): e2059, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181358
16.
Psychological distress 35 years after the Chornobyl accident in the Lithuanian clean-up workers.
Glob Health Action
; 16(1): 2233843, 2023 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459245
17.
Significantly elevated phosphatidylethanol levels in recent suicide attempters, but not in depressed controls and healthy volunteers.
J Psychiatr Res
; 158: 245-254, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608540
18.
Diagnostic Significance of FNAB miRNA Expression in Papillary Thyroid Carcinoma.
Diagnostics (Basel)
; 12(6)2022 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741194
19.
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Orphanet J Rare Dis
; 17(1): 374, 2022 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36242072
20.
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate.
Birth Defects Res A Clin Mol Teratol
; 91(4): 218-25, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21462296