Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Violeta Mikstiene"'
Autor:
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in
Externí odkaz:
https://doaj.org/article/9fa109b82e7f4d818b1ad473453435d8
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, Kamilė Šiaurytė, Violeta Mikštienė, Loreta Cimbalistienė, Dovilė Kriaučiūnienė, Aušra Matulevičienė, Algirdas Utkus, Eglė Preikšaitienė
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with or without hormonal resistance. Pathogenic variants in the PRKAR1A and PDE4D genes are known genetic causes of this condition. The latter gene
Externí odkaz:
https://doaj.org/article/98a20fbf7d584d77a7fc98e358505ab6
Autor:
Sigita Glaveckaitė, Violeta Mikštienė, Eglė Preikšaitienė, Rimvydas Norvilas, Ramūnas Janavičius, Nomeda Rima Valevičienė
Publikováno v:
Cardiogenetics, Vol 11, Iss 1, Pp 31-38 (2021)
Hypertrophic cardiomyopathy and left ventricular noncompaction commonly occur as separate disorders with distinct clinical and pathoanatomical features. However, these cardiomyopathies may have a similar genetic origin with mutations encoding sarcome
Externí odkaz:
https://doaj.org/article/7e378e29b4f3483497dc86f5f97dfaad
Publikováno v:
Acta Medica Lituanica, Vol 28, Iss 2 (2021)
Studies which seek fundamental, thorough knowledge of biological processes, and continuous advancement in natural sciences and biotechnology enable the establishment of molecular strategies and tools to treat disorders caused by genetic mutations. Ov
Externí odkaz:
https://doaj.org/article/b823f542421e4f8e9e0a818327eee771
Autor:
Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Tautvydas Rančelis, Justas Dapkūnas, Birutė Burnytė, Eglė Benušienė, Aušra Sasnauskienė, Jurgita Grikinienė, Eglė Griškevičiūtė, Algirdas Utkus, Eglė Preikšaitienė
Publikováno v:
Medicina, Vol 58, Iss 11, p 1526 (2022)
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many affected individuals have clinical features overlapping with Fryns syndrome and are mainly characte
Externí odkaz:
https://doaj.org/article/0d4f223e52f746da93d29b17009c6014
Autor:
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growth retardation, and
Externí odkaz:
https://doaj.org/article/0db1e7231b70465c9622cfe8367cc483
Autor:
Dovilė Gabartaitė, Dovilė Jančauskaitė, Violeta Mikštienė, Eglė Preikšaitienė, Rimvydas Norvilas, Nomeda Valevičienė, Germanas Marinskis, Audrius Aidietis, Jūratė Barysienė
Publikováno v:
Acta Medica Lituanica, Vol 28, Iss 1 (2021)
Background. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants o
Externí odkaz:
https://doaj.org/article/1e023c6293134de8a1475d28a4390c83
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
Autor:
Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, Eglė Preikšaitienė, Violeta Mikštienė, Alexandre Reymond, Vaidutis Kučinskas
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11. Methods This c
Externí odkaz:
https://doaj.org/article/922f08ea3ea848a4875ea2cac84b7549