List of works - Elżbieta Ciara

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

scientific article

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

scientific article

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

scientific article

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

scientific article published on 23 April 2012

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

scientific article published on 09 September 2016

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

scientific article

Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

scientific article published on 08 April 2020

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

scientific article published on 31 March 2016

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

scientific article

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

scientific journal article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

scientific article published on 3 May 2017

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

scientific article published in January 2016

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

scientific article

Chloroquine is a potent inhibitor of glutamate dehydrogenase in liver and kidney-cortex of rabbit

scientific article published on January 1997

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

scientific article

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

scientific article published on 08 January 2020

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

scientific article published on 16 March 2019

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

scientific article published in March 2011

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

scientific article published in December 2004

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

scientific article published on 16 June 2010

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

scientific article published on 21 December 2020

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

scientific article published on 15 July 2010

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

scientific article (publication date: 2001)

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series

scientific article published on 22 November 2020

Ganglioglioma associated with alterations of NBN gene. A case report.

scientific article published in January 2009

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

scientific article published on 21 November 2019

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

scientific article published in 2022

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

scientific article

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

scientific article published on 01 April 2012

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

scientific article published on 21 November 2008

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

scientific article published on 11 November 2014

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

scientific article published on 30 January 2013

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

scientific article

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

scientific article published on 23 September 2020

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

scientific article published on 3 January 2018

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

scientific article published on 25 October 2020

MEDULLOBLASTOMA

Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).

scientific article published in May 2013

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

scientific article published in January 2006

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

scientific article published on 08 December 2007

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

scientific article published on 20 December 2018

Molecular studies of Polish patients with respiratory chain complex I deficiency

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

scientific article published on 21 May 2020

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

scientific article

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

scientific article published on 26 June 2020

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

scientific article published on 16 July 2021

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

scientific article published on 28 July 2013

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

scientific article published on 30 March 2019

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

scientific article published on 23 December 2016

PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION

scientific article published on 01 January 2016

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

article

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

scientific article

Phenotype expansion and development in Kosaki Overgrowth Syndrome

scientific article published on 11 December 2017

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

scientific article published on 01 January 2020

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

scientific article

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

scientific article published on 10 November 2021

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

scientific article published on 18 September 2020

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

scientific article

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

scientific article published on 24 July 2020

The frequency of NBN molecular variants in pediatric astrocytic tumors.

scientific article

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

scientific article

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

scientific article published on 26 April 2020

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

article

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

scientific article published on 01 February 1999

Tyrosinemia type III in an asymptomatic girl

scientific article

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

scientific article published on 19 December 2017

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

scientific article published on 02 February 2015

Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci

scientific article published on July 2010

[Hyperammonaemia type II as one of the congenital urea cycle defects]

scientific article published on 01 January 1999

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

List of works by Elżbieta Ciara

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

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

Abstracts

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Chloroquine is a potent inhibitor of glutamate dehydrogenase in liver and kidney-cortex of rabbit

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series

Ganglioglioma associated with alterations of NBN gene. A case report.

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Leigh syndrome caused by mutations in is associated with a better prognosis

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

MEDULLOBLASTOMA

Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

Molecular studies of Polish patients with respiratory chain complex I deficiency

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

Phenotype expansion and development in Kosaki Overgrowth Syndrome

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

The frequency of NBN molecular variants in pediatric astrocytic tumors.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

Tyrosinemia type III in an asymptomatic girl

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities