Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M, Dostalova T.
Case Reports 2016; 37(4): 269-276 PubMed PMID: 27857042 Keywords: Adolescent, Anodontia:diagnostic imaging, Basal Cell Nevus Syndrome:complications, Child, Child, Preschool, Cohort Studies, Czech Republic, Early Diagnosis, Female, Gene Duplication, Humans, Imaging, Three-Dimensional, Infant, Jaw:diagnostic imaging, Male. CitationOBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated w.....
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M, Dostalova T. Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis. Neuro Endocrinol Lett. 2016 Sep; 37(4): 269-276
Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
Case Reports 2006; 27(5): 579-585 PubMed PMID: 17159828 Keywords: Child, Preschool, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 8, Cytogenetic Analysis, DNA Methylation, Female, Humans, In Situ Hybridization, Fluorescence, Microsatellite Repeats, Prader-Willi Syndrome:genetics, Translocation, Genetic, Uniparen. CitationOBJECTIVES: In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the .....
Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. Neuro Endocrinol Lett. 2006 Oct; 27(5): 579-585
Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M.
Journal Article 2005; 26(1): 71-74 PubMed PMID: 15726025 Keywords: DNA:genetics, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome:complications, Friedreich Ataxia:genetics, Gait Ataxia:etiology, Humans, Iron-Binding Proteins:genetics, Middle Aged, Mutation:physiology, Nerve Tissue Proteins:genetics, Pheno. Citation: DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their muta.....
Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M. Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman. Neuro Endocrinol Lett. 2005 Feb; 26(1): 71-74