Jolanta Wierzba

Jolanta Wierzba

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Jolanta Wierzba

Jolanta Wierzba

Publications by authors named "Jolanta Wierzba"

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50Publications

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Fetal alcohol spectrum disorders - diagnostic difficulties in the neonatal period and new diagnostic approaches.

Dev Period Med 2019 ;23(1):60-66

Student of Medical University of Gdansk, Poland.

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August 2019

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.

Front Pediatr 2019 15;7:203. Epub 2019 May 15.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

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http://dx.doi.org/10.3389/fped.2019.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530423PMC
May 2019

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

BMC Med Genet 2019 01 3;20(1). Epub 2019 Jan 3.

Department of Biology and Medical Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0738-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318863PMC
January 2019

Mosaic Intronic Variant in a Family With Cornelia de Lange Syndrome.

Front Genet 2018 13;9:255. Epub 2018 Jul 13.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

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http://dx.doi.org/10.3389/fgene.2018.00255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508PMC
July 2018

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Cardiol J 2017;24(1):101-104

Department of Pediatric Cardiology and Congenital Heart Defect, Medical University of Gdansk, Poland.

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http://dx.doi.org/10.5603/CJ.2017.0009DOI Listing
May 2018

Down syndrome, increased risk of dementia and lipid disturbances.

Dev Period Med 2017;21(1):69-73

Department of Pediatrics, Hematology and Oncology, Department of General Nursery Medical University of Gdansk, Poland.

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September 2017

Arthrogryposis multiplex congenital - multidisciplinary care - including own experience.

Dev Period Med 2016;20(3):191-196

Department of Rehabilitation, Medical University of Gdansk, Poland.

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June 2017

Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

Dev Period Med 2015 Oct-Dec;19(4):511-5

Paediatrics, Haemathology & Oncology Clinic, Medical University of Gdańsk, ul. Dębinki 7, 80-592 Gdańsk, tel. (+48 58) 34-92-875, e-mail:

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May 2016

Mild phenotype of a large partial 13q trisomy.

Clin Dysmorphol 2014 Oct;23(4):155-7

Departments of aBiology and Genetics bGeneral Nursery, Medical University of Gdansk, Gdansk, Poland.

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http://pdfs.journals.lww.com/clindysmorphol/2014/10000/Mild_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000052DOI Listing
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Mitochondrion 2013 Nov 26;13(6):810-6. Epub 2013 May 26.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.05.007DOI Listing
November 2013

Arthrogryposis in infancy, multidisciplinary approach: case report.

BMC Pediatr 2013 Nov 11;13:184. Epub 2013 Nov 11.

Department of Rehabilitation, Medical University of Gdansk, ul, Debinki 7, 80-952 Gdańsk, Poland.

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http://dx.doi.org/10.1186/1471-2431-13-184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833971PMC
November 2013

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Mol Cytogenet 2013 Oct 16;6(1):43. Epub 2013 Oct 16.

Department of Biology and Genetics, Medical University of Gdansk, Debinki 1str, 80211 Gdansk, Poland.

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http://dx.doi.org/10.1186/1755-8166-6-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819649PMC
October 2013

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

J Appl Genet 2013 Feb 20;54(1):27-33. Epub 2012 Dec 20.

Department of Biology and Genetics, Medical University of Gdansk, Debinki 1 str., 80211, Gdansk, Poland.

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http://dx.doi.org/10.1007/s13353-012-0126-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548104PMC
February 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

Eur J Med Genet 2010 Nov-Dec;53(6):378-82. Epub 2010 Aug 18.

Department of Biology and Genetics, Medical University of Gdansk, Poland.

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http://dx.doi.org/10.1016/j.ejmg.2010.08.002DOI Listing
June 2011

[Neutropenia in infancy - sometimes chronic and benign - own experiences].

Med Wieku Rozwoj 2008 Jul-Sep;12(3):767-70

Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii Akademii Medycznej w Gdańsku, ul. Debinki 7, 80-211 Gdańsk, Poland.

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April 2009

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

Eur J Med Genet 2008 Mar-Apr;51(2):165-71. Epub 2007 Dec 23.

Department of Biology and Genetics, Medical University of Gdansk, ul. Debinki 1, 80-211 Gdansk, Poland.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120700123
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http://dx.doi.org/10.1016/j.ejmg.2007.12.001DOI Listing
June 2008

A girl with duplication 9q34 syndrome.

Am J Med Genet A 2007 Sep;143A(17):2019-23

Department of Biology and Genetics, Medical University, Gdańsk, Poland.

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http://doi.wiley.com/10.1002/ajmg.a.31847
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31847DOI Listing
September 2007

[Auditory function in children with Brachmann-de Lange syndrom].

Otolaryngol Pol 2006 ;60(4):577-81

Katedra i Klinika Chorób Uszu, Nosa, Gardła i Krtani AM w Gdańsku.

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January 2007

Genetic background of congenital conotruncal heart defects--a study of 45 families.

Kardiol Pol 2007 Jan;65(1):32-7; discussion 38-9

Klinika Kardiologii Dzieciecej i Wad Wrodzonych Serca, Akademia Medyczna, ul. Debinki 7, Gdańsk.

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January 2007

[Endocrinologic problems in children with Down syndrome].

Przegl Lek 2005 ;62(1):65-7

Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademi Medycznej w Gdańsku.

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September 2005

[Sandhoff's and Tay-Sachs disease--based on our own cases].

Klin Oczna 2004 ;106(3 Suppl):534-6

Katedry i Kliniki Chorób Oczu Akademii Medycznej w Gdańsku.

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April 2005

[Vitamin B(12) deficiency anaemia in a 7.5 months old girl].

Med Wieku Rozwoj 2004 Apr-Jun;8(2 Pt 1):283-8

Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademia Medyczna, Debinki 7, 80-211 Gdańsk, Poland.

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April 2005

[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].

Przegl Lek 2004 ;61(5):535-7

Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.

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February 2005

[Sudden death caused by myocarditis in a 14-year old boy with type I diabetes].

Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 2004 ;10(1):49-51

Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii AM w Gdańsku, Gdańsk, Poland.

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November 2004

[X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report].

Wiad Lek 2003 ;56(7-8):378-80

Kliniki Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademii Medycznej w Gdańsku.

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April 2004

[Recombinant erythropoietins--an alternative therapy to red cell blood transfusions in infants with hereditary spherocytosis].

Przegl Lek 2002 ;59(10):871-2

Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.

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May 2003

[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant].

Med Wieku Rozwoj 2002 Jul-Sep;6(3):221-6

Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, 80-952 Gdańsk ul. Debinki 7, Poland.

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May 2003

[Two cases of congenital toxoplasmosis with a central nervous system damage--delayed diagnosis].

Ginekol Pol 2002 Dec;73(12):1218-23

Kliniki Pediatrii, Hematologii, Onkologii i Endokrynologii AM w Gdańsku.

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December 2002