Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

por Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Publicado 2012

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

por Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.
Publicado 2010

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

por Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.
Publicado 2012