Lista de obras - Beata S Lipska-Ziętkiewicz

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

artículo científico publicado en 2015

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

artículo científico publicado en 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?

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli

artículo científico publicado en 2019

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

artículo científico publicado en 2021

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

artículo científico publicado en 2013

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

artículo científico publicado en 2022

Proliferation index revisited in neuroblastic tumors

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2022

WT1 Disorder

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Lista de obras de Beata S Lipska-Ziętkiewicz

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

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

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

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

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

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

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

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

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

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

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

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

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

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

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

Genotype–phenotype associations in WT1 glomerulopathy

Glomerulopathy in patients with distal duplication of chromosome 6p.

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

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

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

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

Mild phenotype of a large partial 13q trisomy

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

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

NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli

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

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

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

Proliferation index revisited in neuroblastic tumors

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

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

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

WT1 Disorder

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