Osborne LR - Search Results

1

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.

Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, Chambers J, Mount HT, Fletcher PJ, Roder JC, Osborne LR. Young EJ, et al. Among authors: osborne lr. Genes Brain Behav. 2008 Mar;7(2):224-34. doi: 10.1111/j.1601-183X.2007.00343.x. Epub 2007 Aug 3. Genes Brain Behav. 2008. PMID: 17680805 Free PMC article.

2

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

Xie G, Clapcote SJ, Nieman BJ, Tallerico T, Huang Y, Vukobradovic I, Cordes SP, Osborne LR, Rossant J, Sled JG, Henderson JT, Roder JC. Xie G, et al. Among authors: osborne lr. Genes Brain Behav. 2007 Nov;6(8):717-27. doi: 10.1111/j.1601-183X.2007.00302.x. Epub 2007 Mar 21. Genes Brain Behav. 2007. PMID: 17376154 Free article.

3

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. Tam E, et al. Among authors: osborne lr. Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360. Am J Med Genet A. 2008. PMID: 18553513 Free PMC article.

4

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

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. Osborne LR, et al. Nat Genet. 2001 Nov;29(3):321-5. doi: 10.1038/ng753. Nat Genet. 2001. PMID: 11685205 Free PMC article.

5

Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I.

Sinai L, Ivakine EA, Lam E, Deurloo M, Dida J, Zirngibl RA, Jung C, Aubin JE, Feng ZP, Yeomans J, McInnes RR, Osborne LR, Roder JC. Sinai L, et al. Among authors: osborne lr. eNeuro. 2015 Mar 30;2(2):ENEURO.0016-14.2015. doi: 10.1523/ENEURO.0016-14.2015. eCollection 2015 Mar-Apr. eNeuro. 2015. PMID: 26464974 Free PMC article.

6

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.

O'Leary J, Osborne LR. O'Leary J, et al. Among authors: osborne lr. PLoS One. 2011;6(8):e23868. doi: 10.1371/journal.pone.0023868. Epub 2011 Aug 31. PLoS One. 2011. PMID: 21909369 Free PMC article.

7

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Somerville MJ, et al. Among authors: osborne lr. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. N Engl J Med. 2005. PMID: 16236740 Free PMC article.

8

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

Proulx E, Young EJ, Osborne LR, Lambe EK. Proulx E, et al. Among authors: osborne lr. J Neurodev Disord. 2010 Jun;2(2):99-108. doi: 10.1007/s11689-010-9044-5. Epub 2010 Mar 19. J Neurodev Disord. 2010. PMID: 20585377 Free PMC article.

9

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.

Deurloo MHS, Turlova E, Chen WL, Lin YW, Tam E, Tassew NG, Wu M, Huang YC, Crawley JN, Monnier PP, Groffen AJA, Sun HS, Osborne LR, Feng ZP. Deurloo MHS, et al. Among authors: osborne lr. Mol Neurobiol. 2019 May;56(5):3313-3325. doi: 10.1007/s12035-018-1290-7. Epub 2018 Aug 17. Mol Neurobiol. 2019. PMID: 30120731 Free PMC article.

10

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

Qaiser F, Yin Y, Mervis CB, Morris CA, Klein-Tasman BP, Tam E, Osborne LR, Yuen RKC. Qaiser F, et al. Among authors: osborne lr. Orphanet J Rare Dis. 2021 Jan 6;16(1):6. doi: 10.1186/s13023-020-01648-6. Orphanet J Rare Dis. 2021. PMID: 33407644 Free PMC article.

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