Detalhe da pesquisa
1.
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
2.
Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes.
J Obstet Gynaecol Res
; 49(3): 781-793, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519629
3.
A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
BMC Endocr Disord
; 21(1): 71, 2021 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858404
4.
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
5.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
BMC Musculoskelet Disord
; 17: 200, 2016 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142102
6.
Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice.
J Clin Med
; 13(8)2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673476
7.
Heterogeneity of oral clefts in relation to associated congenital anomalies.
Medicina (Kaunas)
; 49(2): 61-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23888340
8.
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome.
Eur J Med Genet
; 66(6): 104763, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054968
9.
A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.
Genes (Basel)
; 14(11)2023 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003005
10.
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
11.
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.
Genes (Basel)
; 13(4)2022 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456375
12.
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Am J Med Genet A
; 170(3): 781-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26602066
13.
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
14.
Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms.
Acta Med Litu
; 28(1): 77-85, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34393630
15.
Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.
Genes (Basel)
; 12(8)2021 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440405
16.
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Hum Mutat
; 31(10): E1709-66, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683928
17.
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
Birth Defects Res A Clin Mol Teratol
; 88(9): 748-56, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672350
18.
Juvenile Huntington's disease: two case reports and a review of the literature.
J Med Case Rep
; 14(1): 173, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998776
19.
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
J Clin Endocrinol Metab
; 105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32421827
20.
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.
Medicine (Baltimore)
; 96(16): e6521, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422838