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103
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for author:"Lupski J.R."
in Literature Citations
| Mechanisms of change in gene copy number. Hastings P.J., Lupski J.R., Rosenberg S.M., Ira G. Nat. Rev. Genet. 10:551-564(2009) · Mapped (4) |
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Carvalho C.M., Zhang F., Liu P., Patel A., Sahoo T., Bacino C.A., Shaw C., Peacock S., Pursley A., Tavyev Y.J. et al. Hum. Mol. Genet. 18:2188-2203(2009) · Mapped (5) |
| Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Wang H., den Hollander A.I., Moayedi Y., Abulimiti A., Li Y., Collin R.W.J., Hoyng C.B., Lopez I., Bray M., Lewis R.A. et al. Am. J. Hum. Genet. 84:380-387(2009) · UniProtKB (2) · Mapped (10) |
| Increased LIS1 expression affects human and mouse brain development. Bi W., Sapir T., Shchelochkov O.A., Zhang F., Withers M.A., Hunter J.V., Levy T., Shinder V., Peiffer D.A., Gunderson K.L. et al. Nat. Genet. 41:168-177(2009) · Mapped (3) |
| Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Molina J., Carmona-Mora P., Chrast J., Krall P.M., Canales C.P., Lupski J.R., Reymond A., Walz K. Hum. Mol. Genet. 17:2486-2495(2008) · Mapped (6) |
| Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Tobin J.L., Di Franco M., Eichers E., May-Simera H., Garcia M., Yan J., Quinlan R., Justice M.J., Hennekam R.C., Briscoe J. et al. Proc. Natl. Acad. Sci. U.S.A. 105:6714-6719(2008) · Mapped (11) |
| Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Kabzinska D., Saifi G.M., Drac H., Rowinska-Marcinska K., Hausmanowa-Petrusewicz I., Kochanski A., Lupski J.R. Acta Myol 26:108-111(2007) · Mapped (3) |
| Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Abd-El-Barr M.M., Sykoudis K., Andrabi S., Eichers E.R., Pennesi M.E., Tan P.L., Wilson J.H., Katsanis N., Lupski J.R., Wu S.M. Vision Res. 47:3394-3407(2007) · Mapped (2) |
| Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Inoue K., Ohyama T., Sakuragi Y., Yamamoto R., Inoue N.A., Yu L.H., Li-Hua Y., Goto Y., Wegner M., Lupski J.R. Hum. Mol. Genet. 16:3037-3046(2007) · Mapped (4) |
| Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Szigeti K., Wiszniewski W., Saifi G.M., Sherman D.L., Sule N., Adesina A.M., Mancias P., Papasozomenos S.C.h., Miller G., Keppen L. et al. Neurogenetics 8:257-262(2007) · Mapped (2) |
| Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Khajavi M., Shiga K., Wiszniewski W., He F., Shaw C.A., Yan J., Wensel T.G., Snipes G.J., Lupski J.R. Am. J. Hum. Genet. 81:438-453(2007) · Mapped (2) |
| Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X. et al. |
| Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Edelman E.A., Girirajan S., Finucane B., Patel P.I., Lupski J.R., Smith A.C., Elsea S.H. Clin. Genet. 71:540-550(2007) · Mapped (6) |
| Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Bi W., Yan J., Shi X., Yuva-Paylor L.A., Antalffy B.A., Goldman A., Yoo J.W., Noebels J.L., Armstrong D.L., Paylor R. et al. Hum. Mol. Genet. 16:1802-1813(2007) · Mapped (7) |
| SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Bien-Willner G.A., Stankiewicz P., Lupski J.R. Hum. Mol. Genet. 16:1143-1156(2007) · Mapped (4) |
| Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Lu W., van Eerde A.M., Fan X., Quintero-Rivera F., Kulkarni S., Ferguson H., Kim H.-G., Fan Y., Xi Q., Li Q.-G. et al. Am. J. Hum. Genet. 80:616-632(2007) · UniProtKB (2) · Mapped (18) |
| Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Yan J., Bi W., Lupski J.R. Am. J. Hum. Genet. 80:518-525(2007) · Mapped (71) |
| Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Wiszniewski W., Lewis R.A., Lupski J.R. Hum. Genet. 121:433-439(2007) · Mapped (2) |
| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. del Gaudio D., Fang P., Scaglia F., Ward P.A., Craigen W.J., Glaze D.G., Neul J.L., Patel A., Lee J.A., Irons M. et al. Genet. Med. 8:784-792(2006) · Mapped (5) |
| Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). Walz K., Paylor R., Yan J., Bi W., Lupski J.R. J. Clin. Invest. 116:3035-3041(2006) · Mapped (13) |
| Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Eichers E.R., Abd-El-Barr M.M., Paylor R., Lewis R.A., Bi W., Lin X., Meehan T.P., Stockton D.W., Wu S.M., Lindsay E. et al. Hum. Genet. 120:211-226(2006) · Mapped (2) |
| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Lee J.A., Inoue K., Cheung S.W., Shaw C.A., Stankiewicz P., Lupski J.R. Hum. Mol. Genet. 15:2250-2265(2006) · Mapped (7) |
| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K. et al. Nature 440:1045-1049(2006) · UniProtKB (913) |
| Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Bidinost C., Hernandez N., Edward D.P., Al-Rajhi A., Lewis R.A., Lupski J.R., Stockton D.W., Bejjani B.A. Invest. Ophthalmol. Vis. Sci. 47:1486-1490(2006) · Mapped (3) |
| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Szigeti K., Garcia C.A., Lupski J.R. Genet. Med. 8:86-92(2006) · Mapped (3) |
