Kasnauskiene J - Search Results

1

Genetic structure of Europeans: a view from the North-East.

Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgár N, Toniolo D, Gasparini P, D'Adamo P, Klovins J, Nikitina-Zake L, Kucinskas V, Kasnauskiene J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julià A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A. Nelis M, et al. Among authors: kasnauskiene j. PLoS One. 2009;4(5):e5472. doi: 10.1371/journal.pone.0005472. Epub 2009 May 8. PLoS One. 2009. PMID: 19424496 Free PMC article.

2

Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.

Kasnauskiene J, Cimbalistiene L, Kucinskas V. Kasnauskiene J, et al. Genetika. 2008 Oct;44(10):1397-403. Genetika. 2008. PMID: 19062537

3

Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.

Kasnauskiene J, Cimbalistiene L, Kucinskas V. Kasnauskiene J, et al. Med Sci Monit. 2003 Mar;9(3):CR142-6. Med Sci Monit. 2003. PMID: 12640344

4

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Utkus A, Peciulyte A, Kučinskas V. Kasnauskiene J, et al. Am J Med Genet A. 2013 Jun;161A(6):1487-90. doi: 10.1002/ajmg.a.35911. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633123

5

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V. Ciuladaitė Z, et al. Among authors: kasnauskiene j. J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. J Appl Genet. 2011. PMID: 21931978 No abstract available.

6

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Preiksaitiene E, Kasnauskiene J, Ciuladaite Z, Tumiene B, Patsalis PC, Kučinskas V. Preiksaitiene E, et al. Among authors: kasnauskiene j. Am J Med Genet A. 2012 May;158A(5):1200-3. doi: 10.1002/ajmg.a.35300. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495914

7

The molecular basis of phenylketonuria in Lithuania.

Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V. Kasnauskiene J, et al. Hum Mutat. 2003 Apr;21(4):398. doi: 10.1002/humu.9113. Hum Mutat. 2003. PMID: 12655550

8

Considering specific clinical features as evidence of pathogenic copy number variants.

Preiksaitiene E, Molytė A, Kasnauskiene J, Ciuladaite Z, Utkus A, Patsalis PC, Kučinskas V. Preiksaitiene E, et al. Among authors: kasnauskiene j. J Appl Genet. 2014 May;55(2):189-96. doi: 10.1007/s13353-014-0197-x. Epub 2014 Feb 18. J Appl Genet. 2014. PMID: 24535828

9

Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.

Čiuladaitė Ž, Matulevičienė A, Bandanskytė A, Brazaitis A, Kasnauskienė J, Kučinskas V. Čiuladaitė Ž, et al. Among authors: kasnauskiene j. J Child Neurol. 2014 Mar;29(3):399-405. doi: 10.1177/0883073812471429. Epub 2013 Jan 22. J Child Neurol. 2014. PMID: 23340083

10

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Preiksaitiene E, Krasovskaja N, Utkus A, Kasnauskiene J, Meškienė R, Paulauskiene I, Valevičienė NR, Kučinskas V. Preiksaitiene E, et al. Among authors: kasnauskiene j. Clin Dysmorphol. 2015 Jan;24(1):7-12. doi: 10.1097/MCD.0000000000000059. Clin Dysmorphol. 2015. PMID: 25304119

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