Elzbieta Ciara

Elzbieta Ciara

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Elzbieta Ciara

Elzbieta Ciara

Publications by authors named "Elzbieta Ciara"

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44Publications

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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.

Int J Pediatr Otorhinolaryngol 2019 Jun 16;121:143-149. Epub 2019 Mar 16.

- Department of Pathology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ijporl.2019.03.015DOI Listing
June 2019

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

J Appl Genet 2019 May 30;60(2):163-174. Epub 2019 Mar 30.

Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00491-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483970PMC
May 2019

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

Muscle Nerve 2019 01 26;59(1):129-133. Epub 2018 Oct 26.

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a St, 01-211, Warsaw, Poland.

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http://dx.doi.org/10.1002/mus.26346DOI Listing
January 2019

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

JIMD Rep 2018 3;42:79-87. Epub 2018 Jan 3.

Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1007/8904_2017_83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226391PMC
January 2018

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

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

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

Clin Dysmorphol 2017 Apr;26(2):83-90

aDepartment of Medical Genetics, The Children's Memorial Health Institute bDepartment of Paediatrics, Medical University of Warsaw, Warsaw cDepartment of Medical Genetics, Medical College, Jagiellonian University, Cracov, Poland.

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http://dx.doi.org/10.1097/MCD.0000000000000165DOI Listing
April 2017

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

Eur J Paediatr Neurol 2016 May 4;20(3):462-73. Epub 2016 Feb 4.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2016.01.007DOI Listing
May 2016

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

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Mar 29;160(1):161-7. Epub 2016 Feb 29.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.5507/bp.2016.006DOI Listing
March 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.

Folia Neuropathol 2014 ;52(4):452-6

Maciej Pronicki, Department of Pathology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland, phone: +48 228151960, fax: +48 228151975, e-mail:

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December 2015

Tyrosinemia type III in an asymptomatic girl.

Mol Genet Metab Rep 2015 Dec 22;5:48-50. Epub 2015 Oct 22.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471395PMC
December 2015

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

Mol Genet Metab Rep 2015 Sep 24;4:83-6. Epub 2015 Aug 24.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750574PMC
September 2015

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

Pediatr Int 2015 Jun 27;57(3):486-91. Epub 2015 May 27.

Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1111/ped.12611DOI Listing
June 2015

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

J Appl Genet 2014 Aug 20;55(3):329-36. Epub 2014 Apr 20.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

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http://dx.doi.org/10.1007/s13353-014-0212-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774PMC
August 2014

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

Am J Med Genet A 2012 Jun 23;158A(6):1486-8. Epub 2012 Apr 23.

Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.35320DOI Listing
June 2012

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

Pediatr Neurol 2011 Mar;44(3):221-4

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-736 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.10.007DOI Listing
March 2011

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

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S241-8. Epub 2010 Jun 16.

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-736 Warsaw, Poland.

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http://dx.doi.org/10.1007/s10545-010-9132-4DOI Listing
December 2010

The frequency of NBN molecular variants in pediatric astrocytic tumors.

J Neurooncol 2010 Jan 22;96(2):161-8. Epub 2009 Jul 22.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.1007/s11060-009-9958-5DOI Listing
January 2010

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

Folia Neuropathol 2009 ;47(3):278-83

Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland.

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November 2009

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.

Mol Genet Metab 2003 Jul;79(3):149-59

Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg University, Bruna Stråket 16, S 413 415 Gothenburg, Sweden.

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July 2003