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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Siavrienė E, Preikšaitienė E, Maldžienė Ž, Mikštienė V, Rančelis T, Ambrozaitytė L, Gueneau L, Reymond A, Kučinskas V. Siavrienė E, et al. Among authors: Preiksaitiene E. Gene. 2020 Aug 30;753:144816. doi: 10.1016/j.gene.2020.144816. Epub 2020 May 27. Gene. 2020. PMID: 32473250
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
Maldžienė Ž, Preikšaitienė E, Ignotienė S, Kapitanova N, Utkus A, Kučinskas V. Maldžienė Ž, et al. Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23. Cytogenet Genome Res. 2017. PMID: 28226328
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Pranckėnienė L, Preikšaitienė E, Gueneau L, Reymond A, Kučinskas V. Pranckėnienė L, et al. Among authors: Preiksaitiene E. Genomics Insights. 2019 Apr 2;12:1178631019839010. doi: 10.1177/1178631019839010. eCollection 2019. Genomics Insights. 2019. PMID: 31043788 Free PMC article.
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: Preiksaitiene E. BMC Med Genet. 2019 Jul 17;20(1):127. doi: 10.1186/s12881-019-0859-y. BMC Med Genet. 2019. PMID: 31315586 Free PMC article.
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E, Mikštienė V, Radzevičius D, Maldžienė Ž, Rančelis T, Petraitytė G, Tamulytė G, Kavaliauskienė I, Šarkinas L, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: Preiksaitiene E. Mol Genet Genomic Med. 2019 Sep;7(9):e878. doi: 10.1002/mgg3.878. Epub 2019 Jul 20. Mol Genet Genomic Med. 2019. PMID: 31325247 Free PMC article.
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
Pranckėnienė L, Siavrienė E, Gueneau L, Preikšaitienė E, Mikštienė V, Reymond A, Kučinskas V. Pranckėnienė L, et al. Among authors: Preiksaitiene E. Mol Genet Genomic Med. 2019 Dec;7(12):e1006. doi: 10.1002/mgg3.1006. Epub 2019 Oct 19. Mol Genet Genomic Med. 2019. PMID: 31628733 Free PMC article.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Preiksaitiene E, Voisin N, Gueneau L, Benušienė E, Krasovskaja N, Blažytė EM, Ambrozaitytė L, Rančelis T, Reymond A, Kučinskas V. Preiksaitiene E, et al. Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833209
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V. Preiksaitiene E, et al. Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23. Ophthalmic Genet. 2017. PMID: 27880066
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