Lista de obras - Jitka Stekrova - Dominio Público Uruguay

Analysis of published PKD1 gene sequence variants

article

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

artículo científico publicado en 2013

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

artículo científico publicado en 2018

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.

artículo científico publicado en 2011

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

artículo científico publicado en 2016

Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease

scientific article published on 01 January 2002

Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found

artículo científico publicado en 2006

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

artículo científico publicado en 2015

Influence of VEGF polymorphism on progression of autosomal dominant polycystic kidney disease

scientific article published on 08 December 2008

Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease

scientific article published on 30 August 2006

Influence of the alpha-adducin and ACE gene polymorphism on the progression of autosomal-dominant polycystic kidney disease.

artículo científico publicado en 2003

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy

artículo científico publicado en 2002

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy

artículo científico publicado en 2002

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

artículo científico publicado en 2004

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

artículo científico publicado en 2015

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.

artículo científico publicado en 2007

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

artículo científico publicado en 2009

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

artículo científico publicado en 2007

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

artículo científico publicado en 2014

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

artículo científico publicado en 2013

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

artículo científico publicado en 2006

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

scientific article published on 14 October 2011

The influence of G-protein beta3-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease.

artículo científico publicado en 2004

The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease.

artículo científico publicado en 2006

Lista de obras de Jitka Stekrova

Analysis of published PKD1 gene sequence variants

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease

Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

Influence of VEGF polymorphism on progression of autosomal dominant polycystic kidney disease

Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease

Influence of the alpha-adducin and ACE gene polymorphism on the progression of autosomal-dominant polycystic kidney disease.

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

The influence of G-protein beta3-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease.

The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease.