about
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationTMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathyHeterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaComplete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liverDevelopment 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.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.Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Mutations in ANTXR1 cause GAPO syndrome.Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis.Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.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.Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes.Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.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.Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo.Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.Early isolated v-lesion may not truly represent rejection of the kidney allograftGenetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlatesNoninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseHereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patientsRotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pumpDe novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayHereditary haemochromatosis caused by homozygousHJVmutation evolved through paternal disomyIdentification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancerMolecular Patterns Discriminate Accommodation and Subclinical Antibody-mediated Rejection in Kidney TransplantationLAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humansPOLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B geneSideroblastic anemia associated with multisystem mitochondrial disorders
P50
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P50
description
hulumtues
@sq
molekulární genetik
@cs
researcher
@en
wetenschapper
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հետազոտող
@hy
name
Viktor Stranecky
@ast
Viktor Stranecky
@es
Viktor Stranecky
@nl
Viktor Stranecky
@sl
Viktor Stránecký
@cs
Viktor Stránecký
@en
type
label
Viktor Stranecky
@ast
Viktor Stranecky
@es
Viktor Stranecky
@nl
Viktor Stranecky
@sl
Viktor Stránecký
@cs
Viktor Stránecký
@en
prefLabel
Viktor Stranecky
@ast
Viktor Stranecky
@es
Viktor Stranecky
@nl
Viktor Stranecky
@sl
Viktor Stránecký
@cs
Viktor Stránecký
@en
P214
P1153
15066073600
P21
P214
P31
P496
0000-0002-2599-6479