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chromosome inactivation
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Utilization of X-Chromosome Inactivation Assessment
2003 |
First Faculty of Medicine
publication
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
First Faculty of Medicine, Central Library of Charles University
publication
Utilization of X-Chromosome Inactivation Assessment
2003 |
Faculty of Medicine in Hradec Králové
publication
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
2016 |
First Faculty of Medicine
publication
The chicken Z chromosome is enriched for genes with preferential expression in ovarian somatic cells
2010 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus)
1981 |
Second Faculty of Medicine
publication
APOE epsilon 4: a potential modulation factor in Rett syndrome
2010 |
First Faculty of Medicine
publication
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
2016 |
First Faculty of Medicine
publication
Evolution of multiple sex chromosomes in the spider genus Malthonica (Araneae: Agelenidae) indicates unique structure of the spider sex chromosome systems
2007 |
Faculty of Science
publication
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning
2016 |
First Faculty of Medicine
publication
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Identification of novel informative loci for DNA-based X-inactivation analysis
2015 |
First Faculty of Medicine
publication
Insights into the Meiotic Behavior and Evolution of Multiple Sex Chromosome Systems in Spiders
2011 |
Faculty of Science
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
publication
Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy
2020 |
Second Faculty of Medicine
publication
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
2009 |
Second Faculty of Medicine
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Fabry disease revisited: Management and treatment recommendations for adult patients
2018 |
First Faculty of Medicine
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
Second Faculty of Medicine