Search Results - "Debacker, Kim"

Histone deacetylase complexes promote trinucleotide repeat expansions by Debacker, Kim, Frizzell, Aisling, Gleeson, Olive, Kirkham-McCarthy, Lucy, Mertz, Tony, Lahue, Robert S

“…Expansions of DNA trinucleotide repeats cause at least 17 inherited neurodegenerative diseases, such as Huntington's disease. Expansions can occur at…”
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Fragile sites and human disease by Debacker, Kim, Kooy, R.Frank

“…A relationship between fragile sites, specific genomic regions visible as gaps or breaks on cultivated chromosomes, and human disease has been proposed many…”
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A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families by Metsu, Sofie, Rainger, Jacqueline K., Debacker, Kim, Bernhard, Birgitta, Rooms, Liesbeth, Grafodatskaya, Daria, Weksberg, Rosanna, Fombonne, Eric, Taylor, Martin S., Scherer, Stephen W., Kooy, R. Frank, FitzPatrick, David R.

“…ABSTRACT We report de novo occurrence of the 7p11.2 folate‐sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG‐repeat…”
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CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 by Winnepenninckx, Birgitta, Debacker, Kim, Ramsay, Jacqueline, Smeets, Dominique, Smits, Arie, FitzPatrick, David R., Kooy, R. Frank

“…A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify…”
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COG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 by Winnepenninckx, Birgitta, Debacker, Kim, Ramsay, Jacqueline, Smeets, Dominique

“…A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify…”
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FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage by Debacker, Kim, Winnepenninckx, Birgitta, Ben-Porat, Neta, FitzPatrick, David, Van Luijk, Rob, Scheers, Stefaan, Kerem, Batsheva, Frank Kooy, R

“…Fragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a…”
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Involvement of autosomal fragile sites in mental retardation by Debacker, Kim

“…Fragile sites are gaps, constrictions or breaks on chromosomes that arise when cells are grown under specific culture conditions. According to their frequency…”
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