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List of works by Beata S Lipska-Ziętkiewicz

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

scientific article

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.

scientific article published on 16 March 2017

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

Chronic Kidney Disease in Wilms Tumour Survivors – What Do We Know Today?

scientific article

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

scientific article published in January 2016

CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report

scientific article published on 19 September 2018

Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway.

scientific article published on 30 December 2017

Dent disease in Poland: what we have learned so far?

scientific article published on 16 August 2017

Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

scientific article published on 10 December 2020

Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p

scientific article published on 26 April 2016

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

scientific article published on 17 July 2018

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

scientific article published on 28 May 2020

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

scientific article

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

scientific article published on 11 July 2021

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

scientific article published on 14 September 2016

Genotype–phenotype associations in WT1 glomerulopathy

Glomerulopathy in patients with distal duplication of chromosome 6p.

scientific article

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

scientific article published on 01 January 2019

Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.

scientific article published on 31 May 2017

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

scientific article published on 10 August 2017

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

scientific article published on 10 December 2020

Mild phenotype of a large partial 13q trisomy

scientific article published on 01 October 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

scientific article published on 09 December 2013

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

scientific article published on 14 December 2012

NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli

scientific article published on 12 March 2019

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

scientific article published on 16 July 2021

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

scientific article published on 16 October 2013

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

scientific article published in 2022

Proliferation index revisited in neuroblastic tumors

scientific article published on 01 January 2014

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort

scientific article

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.

scientific article published on 19 May 2016

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

scientific article published in 2022

WT1 Disorder

scientific article published on 01 May 2020

c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients

scientific article

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