American Journal of Human Genetics 2007 James R. Lupski - Abstracts

American Journal of Human Genetics 2007 James R. Lupski
TitleSubjectAuthors
Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and delineation of dosage-sensitive critical interval that can convey an autism phenotype.Biological sciencesRichard Alan Lewis, James R. Lupski, Weimin Bi, Lorraine Potocki, Diane Treadwell-Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Frieman, Daniel Glaze, Kevin Krull, Jennifer A. Lee, Roberto Mendoza-Londono, Patricia Robbins- Furman, Chad Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Pawel Stankiewicz
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.Biological sciencesYi Rao, James F. Gusella, Cynthia C. Morton, Michael R. Eccles, James R. Lupski, Bradley J. Quade, Weimin Bi, Damien Sanlaville, Richard L. Maas, Jiong Yan, Weining Lu, Albertien M. van Eerde, Xueping Fan, Fabiola Quitero-Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung-Goo Kim, Yanli Fan, Qiongchao Xi, Qing-Gang Li, William Andrews, Vasi Sundaresan, Jacques C. Giltay, Tom P.V.M. de Jong, Sally A. Feather, Adrian S. Woolf, Cisa Wijmenga
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy .Biological sciencesTheodore G. Wensel, G. Jackson Snipes, James R. Lupski, Mehrdad Khajavi, Jiong Yan, Feng He, Kensuke Shiga, Wojciech Wiszniewski, Chad A. Shaw
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: Not all null alleles are alike.(Report)Biological sciencesJames R. Lupski, Jiong Yan, Weimin Bi
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