Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

por Smith, Emily Y., Futtner, Christopher R., Chamberlain, Stormy J., Johnstone, Karen A., Resnick, James L.
Publicado 2011

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size

por Leung, Karen N., Vallero, Roxanne O., DuBose, Amanda J., Resnick, James L., LaSalle, Janine M.
Publicado 2009

Regulatory Elements Associated with Paternally-Expressed Genes in the Imprinted Murine Angelman/Prader-Willi Syndrome Domain

por Rodriguez-Jato, Sara, Shan, Jixiu, Khadake, Jyoti, Heggestad, Arnold D., Ma, Xiaojie, Johnstone, Karen A., Resnick, James L., Yang, Thomas P.
Publicado 2013

RF17 | PMON27 Genetic Subtype Differences in Relation to Health Problems Among Adults With Prader-Willi Syndrome

por Pellikaan, Karlijn, Rosenberg, Anna, Wellink, Charlotte, Garcia, Juan Tellez, van Abswoude, Denise, van Zutven, Laura, Brüggenwirth, Hennie, Resnick, James, van der Lely, Aart Jan, de Graaff, Laura
Publicado 2022

Paradoxical leanness in the imprinting-centre deletion mouse model for Prader–Willi syndrome

por Golding, David M, Rees, Daniel J, Davies, Jennifer R, Relkovic, Dinko, Furby, Hannah V, Guschina, Irina A, Hopkins, Anna L, Davies, Jeffrey S, Resnick, James L, Isles, Anthony R, Wells, Timothy
Publicado 2016

Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

por Rosenberg, Anna G. W., Wellink, Charlotte M., Tellez Garcia, Juan M., Pellikaan, Karlijn, Van Abswoude, Denise H., Davidse, Kirsten, Van Zutven, Laura J. C. M., Brüggenwirth, Hennie T., Resnick, James L., Van der Lely, Aart J., De Graaff, Laura C. G.
Publicado 2022

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

por Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.
Publicado 2021