Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Laima Ambrozaitytė"'
Autor:
Romena Laukienė, Laima Ambrozaityte, Loreta Cimbalistienė, Algirdas Utkus, Algirdas Edvardas Tamosiunas
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1384 (2022)
The aim of the study was to evaluate the diagnostic utility of specific miRNAs in the preoperative assessment of thyroid nodules. One hundred and sixty thyroid fine needle aspiration biopsy (FNAB) samples with suspected thyroid carcinoma were collect
Externí odkaz:
https://doaj.org/article/ffb1b2c25b1a4d398233429e9352e85e
Autor:
Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with i
Externí odkaz:
https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5
Autor:
Gabrielė Žukauskaitė, Ingrida Domarkienė, Tautvydas Rančelis, Ingrida Kavaliauskienė, Karolis Baronas, Vaidutis Kučinskas, Laima Ambrozaitytė
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 2 (2024)
Abstract Genomic effect variants associated with survival and protection against complex diseases vary between populations due to microevolutionary processes. The aim of this study was to analyse diversity and distribution of effect variants in a con
Externí odkaz:
https://doaj.org/article/43bfdab6a1b1459098f2f4cedc275e8a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The implementation of next-ge
Externí odkaz:
https://doaj.org/article/78143742ef154dcc97f3618a8d1aa48b
Autor:
Evaldas Kazlauskas, Giedre Smailyte, Ingrida Domarkienė, Vaidutis Kučinskas, Aušra Matulevičienė, Ask Elklit, Gabrielė Žukauskaitė, Laima Ambrozaitytė
Publikováno v:
Global Health Action, Vol 16, Iss 1 (2023)
The adverse effects on the health of the Chornobyl nuclear power plant accident clean-up workers have been reported previously. However, there is a lack of studies on the mental health of Chornobyl clean-up workers. The current study explored psychol
Externí odkaz:
https://doaj.org/article/9333e712054e46e39656e30667df911d
Autor:
Gabrielė Žukauskaitė, Ingrida Domarkienė, Aušra Matulevičienė, Svetlana Dauengauer-Kirlienė, Vaidutis Kučinskas, Laima Ambrozaitytė
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2972-2983 (2023)
Some people resist or recover from health challenges better than others. We studied Lithuanian clean-up workers of the Chornobyl nuclear disaster (LCWC) who worked in the harshest conditions and, despite high ionising radiation doses as well as other
Externí odkaz:
https://doaj.org/article/1a544d481aee4f9194f1628e420efa57
Autor:
Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduc
Externí odkaz:
https://doaj.org/article/5b144b7492a24501b535e885d1c7a127
Autor:
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Publikováno v:
Medicina, Vol 59, Iss 7, p 1225 (2023)
Background and Objectives: Heterozygous pathogenic variants in the MED13L gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characte
Externí odkaz:
https://doaj.org/article/8fb6d50c5202490fb522ae07fa5b5fd9
Autor:
Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė, Loreta Cimbalistienė, Živilė Maldžienė, Tautvydas Rančelis, Evelina Marija Vaitėnienė, Laima Ambrozaitytė, Justas Dapkūnas, Ramūnas Dzindzalieta, Erinija Pranckevičienė, Vaidutis Kučinskas, Algirdas Utkus, Eglė Preikšaitienė
Publikováno v:
Medicina, Vol 58, Iss 3, p 351 (2022)
Background and Objectives: The pathogenic variants of SLC9A6 are a known cause of a rare, X-linked neurological disorder called Christianson syndrome (CS). The main characteristics of CS are developmental delay, intellectual disability, and neurologi
Externí odkaz:
https://doaj.org/article/97018b0d79f4492c9e8785620a93365c
Publikováno v:
International Journal of Ophthalmology, Vol 11, Iss 11, Pp 1875-1878 (2018)
Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian popula
Externí odkaz:
https://doaj.org/article/7c39e1f162a4424a9e0641f059702faf