Wyniki wyszukiwania

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Podstawowe kierunki i sposoby zabezpieczenia rolnictwa Litwy w srodki techniczne

100%

Kucinskas V.

Prace Przemysłowego Instytutu Maszyn Rolniczych

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1995

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tom 40

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nr 4

44-46

2

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta

63%

Benusiene E., Kucinskas V.

Journal of Applied Genetics

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2003

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tom 44

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nr 1

3

Recombinant chromosome 14 due to maternal pericentric inversion

51%

Sliuzas V., Utkus A., Kucinskas V.

Journal of Applied Genetics

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2008

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tom 49

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nr 2

205-207

Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband’s G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.lqter). This abnormality has been confirmed by custom ВАС FISH analysis. His mother’s karyotype was 46,XX,inv(14)(p11.2q32.1).

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First reported case of lysinuric pratein intolerance [LPI] in Lithuania, confirmed biochemically and DNA analysis

51%

Cimbalostiene L., Lehnert W., Huopoen K., Kucinskas V.

Journal of Applied Genetics

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2007

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tom 48

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nr 3

277-280

We report on an 18-year-old Lithuanian girl with hepatosplenomegaly noticed at birth, which progressed thereafter. The patient had to wait about 17 years for an accurate diagnosis and appropriate therapy. Lactase deficiency, congenital cataract of the right eye, and osteoporosis were observed. Episodes of drowsiness were caused by intake of high-protein food. Laboratory findings included slight hyperammonaemia, high plasma Citr, Ala, Gly, Glu, Ser levels, as well as citrullinuria, lysinuria, glutaminuria, alaninuria, argininuria, prolinuria, hydroxyprolinuria, ornithinuria, and orotic aciduria. Aversion to high-protein diet strongly suggested a disorder resulting in hyperammonaemia. Citrullinaemia was suspected. Subsequently the diagnosis ofLPI was made on the basis of biochemical and clinical features. Molecular genetic testing revealed a mutation in the SLC7A7 gene, confirming the diagnosis.

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Few associations of candidate genes with nonysyndromic orofacial clefts in the population of Lithuania

51%

Morkuniene A., Steponaviciute D., Utkus A., Kucinskas V.

Journal of Applied Genetics

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2007

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tom 48

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nr 1

89-91

Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (P = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.

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Considering specific clinical features as evidence of pathogenic copy number variants

39%

Preiksaitiene E., Molyte A., Kasnauskiene J., Ciuladaite Z., Utkus A., Patsalis P. C., Kucinskas V.

Journal of Applied Genetics

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2014

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tom 55

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nr 2

7

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

39%

Tumiene B., Ciuladaite Z., Preiksaitiene E., Mameniskiene R., Utkus A., Kucinskas V.

Journal of Applied Genetics

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2017

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tom 58

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nr 4

8

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Mutations in the human rhodopsin gene and polymorphisms in peripherin-RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients

33%

Kucinskas V., Payne A. M., Ambrasiene D., Jurgelevicius V., Steponaviciute D., Arciuliene J. V., Daktaraviciene E., Bhattacharya S.

Journal of Applied Genetics

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1999

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tom 40

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nr 1

Ograniczanie wyników

Podstawowe kierunki i sposoby zabezpieczenia rolnictwa Litwy w srodki techniczne

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta

Recombinant chromosome 14 due to maternal pericentric inversion

First reported case of lysinuric pratein intolerance [LPI] in Lithuania, confirmed biochemically and DNA analysis

Few associations of candidate genes with nonysyndromic orofacial clefts in the population of Lithuania

Considering specific clinical features as evidence of pathogenic copy number variants

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

Mutations in the human rhodopsin gene and polymorphisms in peripherin-RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients