Author pages are created from data sourced from our academic publisher partnerships and public sources.
A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.
- Isabel Martinez-Garay, S. Jablonka, Markéta Sutajová, P. Steuernagel, A. Gal, K. Kutsche
- Biology, Medicine
- 1 September 2002
Illegitimate recombinations between low-copy repetitive elements (LCR) have been implicated in the pathogenesis of various chromosomal rearrangements. Two such duplicons have been reported previously… Expand
Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.
We studied a female patient initially diagnosed with Costello syndrome who carries an apparently balanced translocation, t(1;22) (q24.3;q13.1). Molecular characterization of the translocation… Expand
Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
Molecular characterization of a chromosome 1;22 translocation in a patient with a phenotype resembling Costello syndrome
- Markéta Sutajová
- 4 October 2004
s – Posters Sutajova, M., Neukirchen, U., Czeizel, E., Timar, L., Gal, A. and Kutsche, K. (2002) Molecular characterization of a chromosome 1;22 translocation in a patient with Costello syndrome:… Expand