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105
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for author:"Scherer S.W."
in Literature Citations
| Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Noor A., Gianakopoulos P.J., Fernandez B., Marshall C.R., Szatmari P., Roberts W., Scherer S.W., Vincent J.B. Psychiatr. Genet. 19:154-155(2009) · Mapped (10) |
| Association and mutation analyses of 16p11.2 autism candidate genes. Kumar R.A., Marshall C.R., Badner J.A., Babatz T.D., Mukamel Z., Aldinger K.A., Sudi J., Brune C.W., Goh G., Karamohamed S. et al. PLoS ONE 4:e4582-e4582(2009) · Mapped (39) |
| Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting. Okamura K., Wintle R.F., Scherer S.W. Genome Biol. 9:R160-R160(2008) · UniProtKB (16) |
| Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Shlien A., Tabori U., Marshall C.R., Pienkowska M., Feuk L., Novokmet A., Nanda S., Druker H., Scherer S.W., Malkin D. Proc. Natl. Acad. Sci. U.S.A. 105:11264-11269(2008) · Mapped (31) |
| Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. Parker-Katiraee L., Bousiaki E., Monk D., Moore G.E., Nakabayashi K., Scherer S.W. Hum. Mol. Genet. 17:3263-3270(2008) · Mapped (5) |
| 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) |
| Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. Monk D., Wagschal A., Arnaud P., Muller P.S., Parker-Katiraee L., Bourc'his D., Scherer S.W., Feil R., Stanier P., Moore G.E. Genome Res. 18:1270-1281(2008) · Mapped (26) |
| Contribution of SHANK3 mutations to autism spectrum disorder. Moessner R., Marshall C.R., Sutcliffe J.S., Skaug J., Pinto D., Vincent J., Zwaigenbaum L., Fernandez B., Roberts W., Szatmari P. et al. Am. J. Hum. Genet. 81:1289-1297(2007) · Mapped (4) |
| Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. Parker-Katiraee L., Carson A.R., Yamada T., Arnaud P., Feil R., Abu-Amero S.N., Moore G.E., Kaneda M., Perry G.H., Stone A.C. et al. PLoS Genet. 3:e65-e65(2007) · Mapped (3) |
| Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. Li C.F., MacDonald J.R., Wei R.Y., Ray J., Lau K., Kandel C., Koffman R., Bell S., Scherer S.W., Alman B.A. |
| Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Harvey C.G., Menon S.D., Stachowiak B., Noor A., Proctor A., Mensah A.K., Mnatzakanian G.N., Alfred S.E., Guo R., Scherer S.W. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B:355-360(2007) · Mapped (5) |
| IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Kwasnicka-Crawford D.A., Carson A.R., Scherer S.W. Biochem. Biophys. Res. Commun. 350:890-899(2006) · UniProtKB (2) |
| 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) |
| Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes. Wilson M.D., Cheung J., Martindale D.W., Scherer S.W., Koop B.F. Physiol. Genomics 27:201-218(2006) · UniProtKB (6) |
| Duplication and relocation of the functional DPY19L2 gene within low copy repeats. Carson A.R., Cheung J., Scherer S.W. |
| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Lohi H., Ianzano L., Zhao X.C., Chan E.M., Turnbull J., Scherer S.W., Ackerley C.A., Minassian B.A. Hum. Mol. Genet. 14:2727-2736(2005) · Mapped (6) |
| Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Kwasnicka-Crawford D.A., Carson A.R., Roberts W., Summers A.M., Rehnstrom K., Jarvela I., Scherer S.W. |
| Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study. Boright A.P., Paterson A.D., Mirea L., Bull S.B., Mowjoodi A., Scherer S.W., Zinman B. Diabetes 54:1238-1244(2005) · Mapped (7) |
| Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast. Yamada T., Carson A.R., Caniggia I., Umebayashi K., Yoshimori T., Nakabayashi K., Scherer S.W. J. Biol. Chem. 280:18283-18290(2005) · UniProtKB (2) · Mapped (11) |
| Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Nakabayashi K., Amann D., Ren Y., Saarialho-Kere U., Avidan N., Gentles S., MacDonald J.R., Puffenberger E.G., Christiano A.M., Martinez-Mir A. et al. Am. J. Hum. Genet. 76:510-516(2005) · UniProtKB (1) · Mapped (1) |
| Expanded repeat in canine epilepsy. Lohi H., Young E.J., Fitzmaurice S.N., Rusbridge C., Chan E.M., Vervoort M., Turnbull J., Zhao X.C., Ianzano L., Paterson A.D. et al. Science 307:81-81(2005) · UniProtKB (1) |
| Altered expression and deletion of RMO1 in osteosarcoma. Eppert K., Wunder J.S., Aneliunas V., Tsui L.-C., Scherer S.W., Andrulis I.L. Int. J. Cancer 114:738-746(2005) · UniProtKB (1) · Mapped (2) |
| Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Vincent J.B., Kolozsvari D., Roberts W.S., Bolton P.F., Gurling H.M., Scherer S.W. Am. J. Med. Genet. B Neuropsychiatr. Genet. 129B:82-84(2004) · Mapped (12) |
| Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript. Robb G.B., Carson A.R., Tai S.C., Fish J.E., Singh S., Yamada T., Scherer S.W., Nakabayashi K., Marsden P.A. J. Biol. Chem. 279:37982-37996(2004) · UniProtKB (2) · Mapped (12) |
| Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Chan E.M., Ackerley C.A., Lohi H., Ianzano L., Cortez M.A., Shannon P., Scherer S.W., Minassian B.A. Hum. Mol. Genet. 13:1117-1129(2004) · UniProtKB (1) |
