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List of works by Algirdas Utkus

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay

scientific article published on 01 October 2019

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

article

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

scientific article published on 01 August 2020

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

scientific article published on 16 April 2020

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

scientific article published on 9 February 2018

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

scientific article published on 23 February 2017

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

scientific article published on April 30, 2013

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

scientific article published on 17 July 2019

A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation

scientific article published in August 2014

AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes.

scientific article

Analysis of Lithuanian CYP2D6 polymorphism and its relevance to psychiatric care of the local population

scientific article published on 19 January 2019

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

scientific article published on January 2014

Autosomal recessive hypercholesterolemia: Case report

scientific article published on 23 September 2019

Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

scientific article

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome

scientific article published on 12 December 2017

Considering specific clinical features as evidence of pathogenic copy number variants

scientific article published on 18 February 2014

Contemporary scope of inborn errors of metabolism involving epilepsy or seizures

scientific article published on 13 July 2018

DNA methyltransferases inhibitors effectively induce gene expression changes suggestive of cardiomyogenic differentiation of human amniotic fluid-derived mesenchymal stem cells via chromatin remodeling

scientific article published on 20 February 2019

Epigenetic alterations in amniotic fluid mesenchymal stem cells derived from normal and fetus-affected gestations: A focus on myogenic and neural differentiations

scientific article published on 28 January 2019

Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users

scientific article published on 10 April 2020

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

scientific article published on 23 November 2016

Fetal biometry: Relevance in obstetrical practice

scientific article published on 9 February 2018

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

scientific article published on 01 January 2007

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy

scientific article published on 01 January 2016

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

scientific article published on 30 March 2020

Heterogeneity of oral clefts in relation to associated congenital anomalies

scientific article published in January 2013

Histone Modifications Pattern Associated With a State of Mesenchymal Stem Cell Cultures Derived From Amniotic Fluid of Normal and Fetus-Affected Gestations.

scientific article published on 5 April 2017

Homicide victims and mechanisms in Lithuania from 2004 to 2016

scientific article published on 21 April 2019

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

scientific article published on 01 January 2016

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

scientific article published on 9 January 2017

Inhibitory capacity of Rhus coriaria L. extract and its major component methyl gallate on Streptococcus mutans biofilm formation by optical profilometry: Potential applications for oral health

scientific article published on June 2017

Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin deficiency in Central Eastern Europe

scientific article published on January 2014

Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

scientific article published on 08 August 2019

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

scientific article published on 20 July 2019

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report

scientific article

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra

scientific article

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

scientific article

Recombinant chromosome 14 due to maternal pericentric inversion

scientific article published on 01 January 2008

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion

scientific article published on 15 November 2014

Relevance of nasal potential difference in diagnosis of cystic fibrosis among children

scientific article

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

scientific article

SERPINA1 gene polymorphisms in a population-based ALSPAC cohort

scientific article published on 12 July 2019

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings

scientific article published on 24 November 2015

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

scientific article published on 19 February 2016

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified

scientific article published on 23 February 2015

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

scientific article published on 29 January 2014

Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate

scientific article published on 01 April 2011

X-linked juvenile retinoschisis: phenotypic and genetic characterization

[Fabry's disease: a clinical case and literature review]

scientific article published on 01 January 2007

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