Lista de obras - KATRIN OUNAP - Dominio Público Uruguay

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

scientific article published on 18 May 2018

A female with Angelman syndrome and unusual limb deformities

artículo científico publicado en 2005

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome

artículo científico publicado en 2005

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

article

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

scientific article published on 11 June 2019

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

artículo científico publicado en 2017

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

artículo científico publicado en 2020

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter

artículo científico publicado en 2000

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

Can untreated PKU patients escape from intellectual disability? A systematic review

artículo científico publicado en 2018

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

artículo científico publicado en 2014

Complex I deficiency and Leigh syndrome through the eyes of a clinician

scientific article published on 30 October 2020

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

artículo científico publicado en 2018

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

artículo científico publicado en 2020

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

scientific article published on 10 November 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

artículo científico publicado en 2018

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

scientific article published on 15 March 2018

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

artículo científico publicado en 2008

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

artículo científico publicado en 2017

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

artículo científico publicado en 2018

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

scientific article published on 08 August 2019

Familial Williams-Beuren syndrome

scientific article published on 01 December 1998

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

artículo científico publicado en 2017

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

scientific article published on 05 February 2020

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

artículo científico publicado en 2011

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients

artículo científico publicado en 2013

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Incidence of Childhood Epilepsy in Estonia

artículo científico publicado en 2018

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

artículo científico publicado en 2014

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

artículo científico publicado en 2016

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes

artículo científico publicado en 2017

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

artículo científico publicado en 2017

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

artículo científico publicado en 2020

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

artículo científico publicado en 2014

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

artículo científico publicado en 2021

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

artículo científico publicado en 2011

MECP2 mutation analysis in patients with mental retardation.

artículo científico publicado en 2005

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

artículo científico publicado en 2011

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

scientific article published on 11 November 2011

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

artículo científico publicado en 2016

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

artículo científico publicado en 2015

POLRMT mutations impair mitochondrial transcription causing neurological disease

artículo científico publicado en 2021

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

artículo científico

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

artículo científico publicado en 2011

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

artículo científico publicado en 2016

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

artículo científico publicado en 2017

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

artículo científico publicado en 2019

The incidence and characterization of phenylketonuric patients in Estonia

scientific article published on 01 January 1996

The neonatal phenotype of Prader-Willi syndrome

artículo científico publicado en 2006

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

artículo científico publicado en 2023

Three families with mild PMM2-CDG and normal cognitive development.

artículo científico publicado en 2017

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

scientific article published on 01 November 2004

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

artículo científico publicado en 2018

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

artículo científico publicado en 2018

Two sisters with Silver-Russell phenotype

scientific article published on 01 December 2004

Lista de obras de KATRIN OUNAP

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

A female with Angelman syndrome and unusual limb deformities

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Can untreated PKU patients escape from intellectual disability? A systematic review

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

Complex I deficiency and Leigh syndrome through the eyes of a clinician

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

Familial Williams-Beuren syndrome

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Incidence of Childhood Epilepsy in Estonia

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

MECP2 mutation analysis in patients with mental retardation.

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

POLRMT mutations impair mitochondrial transcription causing neurological disease

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

The incidence and characterization of phenylketonuric patients in Estonia

The neonatal phenotype of Prader-Willi syndrome

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Three families with mild PMM2-CDG and normal cognitive development.

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

Two sisters with Silver-Russell phenotype