Lista de obras - Viktor Stranecky - Dominio Público Uruguay

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

artículo científico publicado en 2019

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

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

artículo científico publicado en 2017

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

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

scientific article published on 09 January 2020

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

artículo científico publicado en 2013

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

artículo científico publicado en 2018

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation ⬇️

artículo científico publicado el 10 de marzo de 2012

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

artículo científico publicado en 2012

Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic

artículo científico publicado en 2019

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

artículo científico publicado en 2017

DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo.

artículo científico publicado en 2012

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

artículo científico publicado en 2018

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

artículo científico publicado en 2008

Early isolated v-lesion may not truly represent rejection of the kidney allograft

artículo científico publicado en 2018

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

artículo científico publicado en 2018

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

scientific article published on 24 September 2018

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance

artículo científico publicado en 2019

Hereditary haemochromatosis caused by homozygousHJVmutation evolved through paternal disomy

artículo científico publicado en 2014

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

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

artículo científico publicado en 2015

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

artículo científico publicado en 2019

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

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

scientific article published on 08 September 2018

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

artículo científico publicado en 2013

Long-term peritoneal dialysis treatment provokes activation of genes related to adaptive immunity

artículo científico publicado en 2019

Molecular Patterns Discriminate Accommodation and Subclinical Antibody-mediated Rejection in Kidney Transplantation

artículo científico publicado en 2019

Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes

artículo científico publicado en 2015

Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis.

artículo científico

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

artículo científico publicado en 2017

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

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

artículo científico publicado en 2006

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

artículo científico publicado en 2018

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

artículo científico publicado en 2013

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene

scientific article published on 02 October 2019

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

artículo científico publicado en 2019

Peritoneal dialysis induces alterations in the transcriptome of peritoneal cells before detectible peritoneal functional changes

scientific article published on 25 November 2019

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

artículo científico publicado en 2007

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

artículo científico

Sideroblastic anemia associated with multisystem mitochondrial disorders

artículo científico publicado en 2018

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

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

artículo científico publicado en 2008

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

artículo científico publicado en 2016

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

artículo científico publicado en 2015

Lista de obras de Viktor Stranecky

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

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.

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

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

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

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

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation ⬇️

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

Early isolated v-lesion may not truly represent rejection of the kidney allograft

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance

Hereditary haemochromatosis caused by homozygousHJVmutation evolved through paternal disomy

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

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

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

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Long-term peritoneal dialysis treatment provokes activation of genes related to adaptive immunity

Molecular Patterns Discriminate Accommodation and Subclinical Antibody-mediated Rejection in Kidney Transplantation

Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes

Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis.

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

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.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

Peritoneal dialysis induces alterations in the transcriptome of peritoneal cells before detectible peritoneal functional changes

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

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

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

Sideroblastic anemia associated with multisystem mitochondrial disorders

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

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent