Lista de obras - Kateřina Hodaňová - Dominio Público Uruguay

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

artículo científico publicado en 1996

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

artículo científico publicado en 2015

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

artículo científico publicado en 2016

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

artículo científico publicado en 2006

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

article

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

artículo científico publicado en 2015

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

artículo científico publicado en 2013

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

Genetic and clinical features of patients with Gaucher disease in Hungary

artículo científico publicado en 2007

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

article

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

scientific article published on 01 August 1997

Interaction of a bZip oligopeptide model with oligodeoxyribonucleotides modelling DNA binding sites. The effect of flanking sequences.

artículo científico publicado en 1997

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

artículo científico publicado en 2013

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

artículo científico publicado en 2005

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

artículo científico publicado en 2014

Mutations in ANTXR1 cause GAPO syndrome.

artículo científico publicado en 2013

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

artículo científico publicado en 2015

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

artículo científico publicado en 2016

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

scientific article published on 26 April 2020

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

artículo científico publicado en 2003

Lista de obras de Kateřina Hodaňová

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

Genetic and clinical features of patients with Gaucher disease in Hungary

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

Interaction of a bZip oligopeptide model with oligodeoxyribonucleotides modelling DNA binding sites. The effect of flanking sequences.

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

Mutations in ANTXR1 cause GAPO syndrome.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.