Jozef Gécz
Gécz, Jozef, 1962-
VIAF ID: 96156563513523241587 (Personal)
Permalink: http://viaf.org/viaf/96156563513523241587
Preferred Forms
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- 100 0 _ ‡a Jozef Gécz
4xx's: Alternate Name Forms (3)
Works
Title | Sources |
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Analýza DNA ako prevencia cystickej fibrózy | |
Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine požadujúcej prenatálnu diagnostiku hemofílie A | |
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression | |
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression | |
Missense variant contribution to USP9X-female syndrome | |
[Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy] | |
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene | |
Molekulárno-genetická analýza delécií pri progresívnych svalových dystrofiách typu Duchenne a Becker ; Aut. Ľudovít Kádasi, Jozef Gécz, Ľudmila Saksová, Mária Thurzová | |
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons | |
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization | |
Mutácia delta F508 zapríčiňujúca cystickú fibrózu a jej asociácia s tesne viazanými polymorfizmami DNA v slovenskej populácii | |
Mutation detection in FGFR2 craniosynostosis syndromes | |
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. | |
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. | |
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient | |
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. | |
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy | |
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. | |
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | |
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans | |
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. | |
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation | |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity | |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation | |
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division | |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly | |
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus | |
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. | |
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism | |
New insights into Brunner syndrome and potential for targeted therapy. | |
NHS-A isoform of the NHS gene is a novel interactor of ZO-1. | |
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. | |
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability | |
Nonsense-mediated mRNA decay: inter-individual variability and human disease | |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation | |
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform | |
A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability | |
A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations | |
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis | |
A novel locus for X-linked congenital cataract on Xq24. | |
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment | |
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32. | |
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations | |
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias | |
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). | |
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation | |
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. | |
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? | |
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling | |
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy | |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder | |
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice | |
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy | |
PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example | |
PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus | |
Phenotype-genotype complexities: opening DOORS. | |
PHF6 mutations in T-cell acute lymphoblastic leukemia | |
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia | |
Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts | |
Polyalanine tract disorders and neurocognitive phenotypes | |
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity | |
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). | |
Protocadherin Mutations in Neurodevelopmental Disorders | |
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome | |
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay | |
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda | |
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX | |
Rýchla prenatálna diagnostika cystickej fibrózy metódou polymerázovej reťazovej reakcie (PCR): výsledky prvých piatich vyšetrení | |
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy | |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | |
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity | |
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair. | |
A UPF3-mediated regulatory switch that maintains RNA surveillance | |
A Upf3b-mutant mouse model with behavioral and neurogenesis defects. | |
Uplatnenie analýzy DNA v diagnostike a prevencii hemofílie A ; Jozef Gécz, Ľudovít Kádasi, Helena Poláková, Vladimír Ferák |