Caveat mTOR: aberrant signaling disrupts corticogenesis

Por Osborne, Lucy R.
Publicado em 2010

Animal Models of Williams Syndrome

Por OSBORNE, LUCY R.
Publicado em 2010

Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development

Por Osborne, Lucy R., Mervis, Carolyn B.
Publicado em 2007

Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice

Por O'Leary, Jennifer, Osborne, Lucy R.
Publicado em 2011

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and E...

Por Mervis Carolyn B, Morris Colleen A, Osborne Lucy R
Publicado em 2011-02-01

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and E...

Por Morris, Colleen A, Mervis, Carolyn B, Osborne, Lucy R
Publicado em 2011

Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

Por Proulx, Éliane, Young, Edwin J., Osborne, Lucy R., Lambe, Evelyn K.
Publicado em 2010

Refinement of the Genomic Structure of STX1A and Mutation Analysis in Nondeletion Williams Syndrome Patients

Por Wu, Yuan-Qing, Bejjani, Bassem A., Tsui, Lap-Chee, Mandel, Ariane, Osborne, Lucy R., Shaffer, Lisa G.
Publicado em 2002

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Por Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.
Publicado em 2005

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

Por Strong, Emma, Butcher, Darci T., Singhania, Rajat, Mervis, Carolyn B., Morris, Colleen A., De Carvalho, Daniel, Weksberg, Rosanna, Osborne, Lucy R.
Publicado no Am J Hum Genet (2015)

High Prevalence of Diabetes and Pre-Diabetes in Adults With Williams Syndrome

Por Pober, Barbara R., Wang, Erica T., Caprio, Sonia, Petersen, Kitt F., Brandt, Cynthia, Stanley, Takara L., Osborne, Lucy R., Dziura, James, Gulanski, Barbara
Publicado em 2010

The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms

Por Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.
Publicado em 2008

New Roles of Syntaxin-1A in Insulin Granule Exocytosis and Replenishment

Por Liang, Tao, Qin, Tairan, Xie, Li, Dolai, Subhankar, Zhu, Dan, Prentice, Kacey J., Wheeler, Michael, Kang, Youhou, Osborne, Lucy, Gaisano, Herbert Y.
Publicado no J Biol Chem (2017)

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

Por Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Publicado no Orphanet J Rare Dis (2021)

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Por Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa, Cox, Sarah, Tsui, Lap-Chee, Scherer, Stephen W.
Publicado em 2001

Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

Por Khattak, Shahryar, Brimble, Elise, Zhang, Wenbo, Zaslavsky, Kirill, Strong, Emma, Ross, P. Joel, Hendry, Jason, Mital, Seema, Salter, Michael W., Osborne, Lucy R., Ellis, James
Publicado no Mol Brain (2015)

Syntaxin 2 Acts as Inhibitory SNARE for Insulin Granule Exocytosis

Por Zhu, Dan, Xie, Li, Kang, Youhou, Dolai, Subhankar, Bondo Hansen, Jakob, Qin, Tairan, Xie, Huanli, Liang, Tao, Rubin, Deborah C., Osborne, Lucy, Gaisano, Herbert Y.
Publicado no Diabetes (2017)

Children with 7q11.23 Duplication Syndrome: Psychological Characteristics

Por Mervis, Carolyn B., Klein-Tasman, Bonita P., Huffman, Myra J., Velleman, Shelley L., Pitts, C. Holley, Henderson, Danielle R., Woodruff-Borden, Janet, Morris, Colleen A., Osborne, Lucy R.
Publicado no Am J Med Genet A (2015)

A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes

Por Allalou, Amina, Nalla, Amarnadh, Prentice, Kacey J., Liu, Ying, Zhang, Ming, Dai, Feihan F., Ning, Xian, Osborne, Lucy R., Cox, Brian J., Gunderson, Erica P., Wheeler, Michael B.
Publicado no Diabetes (2016)

The Centre for Modeling Human Disease Gene Trap resource

Por To, Christine, Epp, Trevor, Reid, Tammy, Lan, Qing, Yu, Mei, Li, Carol Y. J., Ohishi, Minako, Hant, Paula, Tsao, Nora, Casallo, Guillermo, Rossant, Janet, Osborne, Lucy R., Stanford, William L.
Publicado em 2004