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List of works by Jolanta Wierzba

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.

scientific article published on January 2011

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes

scientific 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 girl with duplication 9q34 syndrome

scientific article published in September 2007

Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings.

scientific article published on 19 October 2010

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

scientific article published on January 2004

Arthrogryposis in infancy, multidisciplinary approach: case report

scientific article

Arthrogryposis multiplex congenital - multidisciplinary care - including own experience

scientific article

Auditory function in children with Brachmann-de Lange syndrom

scientific article published in January 2006

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

scientific article

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

scientific article published on July 2001

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

scientific article published on 12 May 2021

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

scientific article published on 01 January 2017

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician

scientific article published in January 2016

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

scientific article (publication date: September 2014)

Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)

scientific article published on 01 October 2011

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

scientific article

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

scientific article

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

scientific article published on 01 May 2010

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

scientific article published on 10 September 2012

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

scientific article published on 01 October 2018

Down syndrome, increased risk of dementia and lipid disturbances

scientific article published in January 2017

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

scientific article published on 9 February 2013

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

scientific article published on 16 December 2015

Factors affecting the prevalence of overweight and obesity in children with Down syndrome

scientific article published on 15 May 2020

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

scientific article published on 01 January 2019

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

scientific article

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

scientific article published on 15 May 2019

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

scientific article published in January 2007

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

scientific article published on 14 September 2016

Haemophilia A associated with Down's syndrome

scientific article published on 14 November 2012

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.

scientific article published on 2 November 2017

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

scientific article published in 2022

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

scientific article published on 28 May 2016

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

scientific article

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

scientific article published on 16 February 2012

Left ventricular volumes and function affected by myocardial fibrosis in patients with Duchenne and Becker muscular dystrophies: a preliminary magnetic resonance study

scientific article published on 02 March 2020

Long-term clinical effects of enzyme replacement therapy in MPS II

scientific article published in July 2017

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

scientific article

Mild phenotype of a large partial 13q trisomy

scientific article published on 01 October 2014

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

article

Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

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

scientific article published on 13 July 2018

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

scientific article

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

scientific article published on 01 May 2001

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

scientific article published on 16 October 2013

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

scientific article published on 01 July 2002

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

scientific article published on 25 January 2019

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

scientific article published on 23 December 2007

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

scientific article published on 31 May 2016

Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study.

scientific article

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

scientific article published in 2022

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

scientific article published in January 2004

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

scientific article published on 20 December 2012

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps

scientific article

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

scientific article published in January 2004

The Marfan syndrome - features, natural history and treatment options - our experiences.

scientific article

The course of the dilated cardiomyopathy in three siblings - a rare case of familial non-compact left ventricle

scientific article published on 01 April 2011

The importance of rare diseases: from the gene to society.

scientific article published on 12 August 2010

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

scientific article

Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy

scientific article published on 24 August 2020

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

scientific article published in December 2002

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

scientific article published on 24 June 2020

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

scientific article published in January 2003

[Acute leukemia in children with Down syndrome: analysis of cases]

scientific article published on 01 January 1998

[Endocrinologic problems in children with Down syndrome]

scientific article published on 01 January 2005

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

scientific article published on 01 July 2002

[Neurofibromatosis type 1 in children. Experiences of the Gdansk Paediatric Oncohaematology Centre. Preliminary results]

scientific article published on 01 July 2007

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

scientific article published on 01 July 2008

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

scientific article published on 01 January 2002

[The clinical course of fungal urinary tract infection in neonates]

scientific article published on 01 April 1996

[Thrombus in the right ventricle in an infant--a good result of thrombolytic therapy with recombinant tissue plasminogen activator]

scientific article published on 01 January 1997

[Thrombus of the right ventricle simulating a cardiac tumor--case report]

scientific article published on 01 January 1998

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

scientific article published on 01 April 2004

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