Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Por Trifonov, Vladimir, Fluri, Simon, Binkert, Franz, Nandini, Adayapalam, Anderson, Jasen, Rodriguez, Laura, Gross, Madeleine, Kosyakova, Nadezda, Mkrtchyan, Hasmik, Ewers, Elisabeth, Reich, Daniela, Weise, Anja, Liehr, Thomas
Publicado em 2008

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio SNP microarray analysis

Por Mason, Jane A., Aung, Hnin T., Nandini, Adayapalam, Woods, Rickie G., Fairbairn, David J., Rowell, John A., Young, David, Susman, Rachel D., Brown, Simon A., Hyland, Valentine J., Robertson, Jeremy D.
Publicado no Mol Genet Genomic Med (2018)