Detalhe da pesquisa
1.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
2.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Medicina (Kaunas)
; 58(3)2022 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35334527
3.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
4.
A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
BMC Endocr Disord
; 21(1): 71, 2021 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858404
5.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
6.
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
BMC Genet
; 17: 45, 2016 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26896187
7.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
BMC Musculoskelet Disord
; 17: 200, 2016 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142102
8.
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Pediatr Int
; 56(4): 520-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373060
9.
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Am J Med Genet A
; 161A(6): 1291-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633437
10.
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Mol Genet Metab
; 105(2): 237-43, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22133300
11.
Diagnostic Significance of FNAB miRNA Expression in Papillary Thyroid Carcinoma.
Diagnostics (Basel)
; 12(6)2022 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741194
12.
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Am J Med Genet A
; 155A(10): 2501-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21998857
13.
Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: systematic review.
Endokrynol Pol
; 72(2): 145-152, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970479
14.
X-linked juvenile retinoschisis: phenotypic and genetic characterization.
Int J Ophthalmol
; 11(11): 1875-1878, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450322
15.
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
J Appl Genet
; 48(3): 277-80, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17666782
16.
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Acta Med Litu
; 23(2): 73-85, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356794
17.
Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.
J Appl Genet
; 52(4): 443-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21931978
18.
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Med Sci Monit
; 9(3): CR142-6, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12640344
19.
[Psychological adjustment of children with phenylketonuria]. / Fenilketonurija serganciu vaiku psichine sveikata.
Medicina (Kaunas)
; 38(4): 424-30, 2002.
Artigo
em Lituano
| MEDLINE | ID: mdl-12474792