Articles by author - Martina Simandlova

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

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.    Citation

OBJECTIVES: In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the .....

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