Lista de obras -

5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

artículo científico publicado en 2008

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

artículo científico publicado en 2005

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

artículo científico publicado en 2012

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

artículo científico publicado en 2010

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

artículo científico publicado en 2010

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

artículo científico publicado en 2014

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature

artículo científico publicado en 2016

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

artículo científico publicado en 2016

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

artículo científico publicado en 2016

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

artículo científico publicado en 2006

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

artículo científico publicado en 2014

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

artículo científico publicado en 2010

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

artículo científico publicado en 2014

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

artículo científico publicado en 2013

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis

artículo científico publicado en 2015

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

artículo científico publicado en 2015

Descriptive epidemiology of Down's syndrome in Estonia

artículo científico publicado en 2006

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

artículo científico publicado en 2003

Diffuse hypomyelination is not obligate for POLR3-related disorders

artículo científico publicado en 2016

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

artículo científico publicado en 2011

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

artículo científico publicado en 2015

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter

artículo científico publicado en 2002

Girl with partial Turner syndrome and absence epilepsy

artículo científico publicado en 2008

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

High incidence of low vitamin B12 levels in Estonian newborns

artículo científico publicado en 2018

Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening

artículo científico publicado en 2017

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature

artículo científico publicado en 2009

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

artículo científico publicado en 2010

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities

artículo científico publicado en 2014

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome

artículo científico publicado en 2014

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

artículo científico publicado en 2012

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

artículo científico publicado en 2015

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

artículo científico publicado en 2011

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

Ocular Manifestation of CACNA1A Pathogenic Variants

artículo científico publicado en 2016

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia

artículo científico publicado en 2003

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented

artículo científico publicado en 2006

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia

artículo científico publicado en 2010

Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population

artículo científico publicado en 2008

Prospective experience with contingent screening strategy for Down syndrome in Estonia

artículo científico publicado en 2010

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

artículo científico publicado en 2016

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss

artículo científico publicado en 2008

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

artículo científico publicado en 2004

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity

artículo científico publicado en 2015

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome

artículo científico publicado en 2015

The live-birth prevalence of mucopolysaccharidoses in Estonia

artículo científico publicado en 2012

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

artículo científico publicado en 2015

Lista de obras de

5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Descriptive epidemiology of Down's syndrome in Estonia

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

Diffuse hypomyelination is not obligate for POLR3-related disorders

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter

Girl with partial Turner syndrome and absence epilepsy

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

High incidence of low vitamin B12 levels in Estonian newborns

Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Novel (ovario) leukodystrophy related to AARS2 mutations

Ocular Manifestation of CACNA1A Pathogenic Variants

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia

Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population

Prospective experience with contingent screening strategy for Down syndrome in Estonia

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome

The live-birth prevalence of mucopolysaccharidoses in Estonia

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.