Epithelial P2X purinergic receptor channel expression and function

Por Taylor, Amanda L., Schwiebert, Lisa M., Smith, Jeffrey J., King, Chris, Jones, Julie R., Sorscher, Eric J., Schwiebert, Erik M.
Publicado em 1999

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Por Labonne, Jonathan D. J., Graves, Tyler D., Shen, Yiping, Jones, Julie R., Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo
Publicado no BMC Neurol (2016)

Lessons from a pair of siblings with BPAN

Por Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Publicado no Eur J Hum Genet (2016)

Lessons from a pair of siblings with BPAN

Por Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Publicado no Eur J Hum Genet (2016)

Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance

Por Jones, Julie R., Barrick, Cordelia, Kim, Kyoung-Ah, Lindner, Jill, Blondeau, Bertrand, Fujimoto, Yuka, Shiota, Masakazu, Kesterson, Robert A., Kahn, Barbara B., Magnuson, Mark A.
Publicado em 2005

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Por Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A., Jones, Julie R., Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D. J., Layman, Lawrence C., Wenzel, Wolfgang, Kim, Hyung-Goo
Publicado no Genes (Basel) (2016)

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Por Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.
Publicado no Cold Spring Harb Mol Case Stud (2016)

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Por Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S
Publicado no Eur J Hum Genet (2015)

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Por Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Publicado em 2007