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A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes
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.
Published in Diabetes (New York, N.Y.) (01.09.2016)
Published in Diabetes (New York, N.Y.) (01.09.2016)
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Journal Article
Animal models of Williams syndrome
Osborne, Lucy R.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.05.2010)
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Journal Article
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23
Strong, Emma, Butcher, Darci T., Singhania, Rajat, Mervis, Carolyn B., Morris, Colleen A., De Carvalho, Daniel, Weksberg, Rosanna, Osborne, Lucy R.
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Journal Article
First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers‐Danlos Syndrome
Chen, Frieda, Guo, Ruolin, Itoh, Shousaku, Moreno, Luisa, Rosenthal, Esther, Zappitelli, Tanya, Zirngibl, Ralph A, Flenniken, Ann, Cole, William, Grynpas, Marc, Osborne, Lucy R, Vogel, Wolfgang, Adamson, Lee, Rossant, Janet, Aubin, Jane E
Published in Journal of bone and mineral research (01.06.2014)
Published in Journal of bone and mineral research (01.06.2014)
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Journal Article
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Mervis, Carolyn B., Dida, Joana, Lam, Emily, Crawford-Zelli, Nicole A., Young, Edwin J., Henderson, Danielle R., Onay, Tuncer, Morris, Colleen A., Woodruff-Borden, Janet, Yeomans, John, Osborne, Lucy R.
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Journal Article
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Published in Orphanet journal of rare diseases (06.01.2021)
Published in Orphanet journal of rare diseases (06.01.2021)
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Journal Article
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
Strong, Emma, Mervis, Carolyn B., Tam, Elaine, Morris, Colleen A., Klein-Tasman, Bonita P., Velleman, Shelley L., Osborne, Lucy R.
Published in Npj genomic medicine (14.09.2023)
Published in Npj genomic medicine (14.09.2023)
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Journal Article
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
Liu, Delong, Billington, Charles J., Raja, Neelam, Wong, Zoe C., Levin, Mark D., Resch, Wulfgang, Alba, Camille, Hupalo, Daniel N., Biamino, Elisa, Bedeschi, Maria Francesca, Digilio, Maria Cristina, Squeo, Gabriella Maria, Villa, Roberta, Parrish, Pheobe C. R., Knutsen, Russell H., Osgood, Sharon, Freeman, Joy A., Dalgard, Clifton L., Merla, Giuseppe, Pober, Barbara R., Mervis, Carolyn B., Roberts, Amy E., Morris, Colleen A., Osborne, Lucy R., Kozel, Beth A.
Published in Journal of the American Heart Association (06.02.2024)
Published in Journal of the American Heart Association (06.02.2024)
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Journal Article
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia
Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, Hartung, Danielle, Innes, Micheil, Kerem, Batsheva, Nowaczyk, Małgorzata J., Rivlin, Joseph, Roberts, Wendy, Senman, Lili, Summers, Anne, Szatmari, Peter, Wong, Virginia, Vincent, John B., Zeesman, Susan, Osborne, Lucy R., Cardy, Janis Oram, Kere, Juha, Scherer, Stephen W., Hannula-Jouppi, Katariina
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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Journal Article
7q11.23 deletion and duplication
Osborne, Lucy R, Mervis, Carolyn B
Published in Current opinion in genetics & development (01.06.2021)
Published in Current opinion in genetics & development (01.06.2021)
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Journal Article
Essential Role of Fkbp6 in Male Fertility and Homologous Chromosome Pairing in Meiosis
Crackower, Michael A., Kolas, Nadine K., Noguchi, Junko, Sarao, Renu, Kikuchi, Kazuhiro, Kaneko, Hiroyuki, Kobayashi, Eiji, Kawai, Yasuhiro, Kozieradzki, Ivona, Landers, Rushin, Mo, Rong, Hui, Chi-Chung, Nieves, Edward, Cohen, Paula E., Osborne, Lucy R., Wada, Teiji, Kunieda, Tetsuo, Moens, Peter B., Penninger, Josef M.
Published in Science (American Association for the Advancement of Science) (23.05.2003)
Published in Science (American Association for the Advancement of Science) (23.05.2003)
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Journal Article
Williams syndrome
Kozel, Beth A., Barak, Boaz, Kim, Chong Ae, Mervis, Carolyn B., Osborne, Lucy R., Porter, Melanie, Pober, Barbara R.
Published in Nature reviews. Disease primers (17.06.2021)
Published in Nature reviews. Disease primers (17.06.2021)
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Journal Article
Enu Mutagenesis Identifies a Novel Platelet Phenotype in a Loss-Of-Function Jak2 Allele
Anderson, Nicole M., Javadi, Mojib, Berndl, Elizabeth, Berberovic, Zorana, Bailey, Monica L., Huang, Kai, Flenniken, Ann M., Osborne, Lucy R., Adamson, S. Lee, Rossant, Janet, Carter-Su, Christin, Wang, Chen, McNagny, Kelly M., Paulson, Robert F., Minden, Mark D., Stanford, William L., Barber, Dwayne L.
Published in PloS one (25.09.2013)
Published in PloS one (25.09.2013)
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Journal Article
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis
Hughes, Michael R., Anderson, Nicole, Maltby, Steven, Wong, Justin, Berberovic, Zorana, Birkenmeier, Connie S., Haddon, D. James, Garcha, Kamal, Flenniken, Ann, Osborne, Lucy R., Adamson, S. Lee, Rossant, Janet, Peters, Luanne L., Minden, Mark D., Paulson, Robert F., Wang, Chen, Barber, Dwayne L., McNagny, Kelly M., Stanford, William L.
Published in Experimental hematology (01.03.2011)
Published in Experimental hematology (01.03.2011)
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Journal Article
Transgenic Mouse Overexpressing Syntaxin-1A as a Diabetes Model
Lam, Patrick P.L., Leung, Yuk-Man, Sheu, Laura, Ellis, James, Tsushima, Robert G., Osborne, Lucy R., Gaisano, Herbert Y.
Published in Diabetes (New York, N.Y.) (01.09.2005)
Published in Diabetes (New York, N.Y.) (01.09.2005)
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Journal Article
7q11.23 Duplication syndrome: Physical characteristics and natural history
Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osborne, Lucy R.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
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 Europe
Morris, Colleen A, Mervis, Carolyn B, Osborne, Lucy R
Published in Molecular cytogenetics (28.02.2011)
Published in Molecular cytogenetics (28.02.2011)
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Journal Article
Spatial gene expression analysis of neuroanatomical differences in mouse models
Fernandes, Darren J., Ellegood, Jacob, Askalan, Rand, Blakely, Randy D., Dicicco-Bloom, Emanuel, Egan, Sean E., Osborne, Lucy R., Powell, Craig M., Raznahan, Armin, Robins, Diane M., Salter, Michael W., Sengar, Ameet S., Veenstra-VanderWeele, Jeremy, Henkelman, R.M., Lerch, Jason P.
Published in NeuroImage (Orlando, Fla.) (01.12.2017)
Published in NeuroImage (Orlando, Fla.) (01.12.2017)
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Journal Article