14
results
for author:"Osborne L.R."
in Literature Citations
| Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Marshall C.R., Young E.J., Pani A.M., Freckmann M.L., Lacassie Y., Howald C., Fitzgerald K.K., Peippo M., Morris C.A., Shane K. et al. Am. J. Hum. Genet. 83:106-111(2008) · Mapped (6) |
| Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Young E.J., Lipina T., Tam E., Mandel A., Clapcote S.J., Bechard A.R., Chambers J., Mount H.T., Fletcher P.J., Roder J.C. et al. Genes Brain Behav. 7:224-234(2008) · Mapped (9) |
| Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. Davidson C.E., Li Q., Churchill G.A., Osborne L.R., McDermid H.E. Physiol. Genomics 31:244-251(2007) · Mapped (10) |
| Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. Xie G., Clapcote S.J., Nieman B.J., Tallerico T., Huang Y., Vukobradovic I., Cordes S.P., Osborne L.R., Rossant J., Sled J.G. et al. Genes Brain Behav. 6:717-727(2007) · Mapped (9) |
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Feuk L., Kalervo A., Lipsanen-Nyman M., Skaug J., Nakabayashi K., Finucane B., Hartung D., Innes M., Kerem B., Nowaczyk M.J. et al. Am. J. Hum. Genet. 79:965-972(2006) · Mapped (12) |
| A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Flenniken A.M., Osborne L.R., Anderson N., Ciliberti N., Fleming C., Gittens J.E., Gong X.Q., Kelsey L.B., Lounsbury C., Moreno L. et al. Development 132:4375-4386(2005) · Mapped (8) |
| Transgenic mouse overexpressing syntaxin-1A as a diabetes model. Lam P.P., Leung Y.M., Sheu L., Ellis J., Tsushima R.G., Osborne L.R., Gaisano H.Y. Diabetes 54:2744-2754(2005) · Mapped (3) |
| Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Crackower M.A., Kolas N.K., Noguchi J., Sarao R., Kikuchi K., Kaneko H., Kobayashi E., Kawai Y., Kozieradzki I., Landers R. et al. Science 300:1291-1295(2003) · Mapped (6) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Wu Y.-Q., Bejjani B.A., Tsui L.-C., Mandel A., Osborne L.R., Shaffer L.G. Am. J. Med. Genet. 109:121-124(2002) · UniProtKB (1) |
| Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Osborne L.R., Campbell T., Daradich A., Scherer S.W., Tsui L.-C. Genomics 57:279-284(1999) · UniProtKB (1) |
| The BCL7 gene family: deletion of BCL7B in Williams syndrome. Jadayel D.M., Osborne L.R., Coignet L.J.A., Zani V.J., Tsui L.-C., Scherer S.W., Dyer M.J.S. Gene 224:35-44(1998) · UniProtKB (5) |
| Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Osborne L.R., Soder S., Shi X.-M., Pober B., Costa T., Scherer S.W., Tsui L.-C. Am. J. Hum. Genet. 61:449-452(1997) · UniProtKB (1) |
| Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Osborne L.R., Martindale D.W., Scherer S.W., Shi X.-M., Huizenga J., Heng H.H.Q., Costa T., Pober B., Lew L., Brinkman J. et al. |
