20 results for author:"Speer M.C." in Literature citations
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| A common MUC5B promoter polymorphism and pulmonary fibrosis. Seibold M.A., Wise A.L., Speer M.C., Steele M.P., Brown K.K., Loyd J.E., Fingerlin T.E., Zhang W., Gudmundsson G., Groshong S.D. et al. N. Engl. J. Med. 364:1503-1512(2011) · UniProtKB (1) · Mapped (7) |
| A functional alternative splicing mutation in human tryptophan hydroxylase-2. Zhang X., Nicholls P.J., Laje G., Sotnikova T.D., Gainetdinov R.R., Albert P.R., Rajkowska G., Stockmeier C.A., Speer M.C., Steffens D.C. et al. Mol. Psychiatry 16:1169-1176(2011) · Mapped (3) |
| Association of AGTR1 with 18-month treatment outcome in late-life depression. Kondo D.G., Speer M.C., Krishnan K.R., McQuoid D.R., Slifer S.H., Pieper C.F., Billups A.V., Steffens D.C. Am J Geriatr Psychiatry 15:564-572(2007) · Mapped (5) |
| Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Boyles A.L., Billups A.V., Deak K.L., Siegel D.G., Mehltretter L., Slifer S.H., Bassuk A.G., Kessler J.A., Reed M.C., Nijhout H.F. et al. Environ. Health Perspect. 114:1547-1552(2006) · Mapped (51) |
| Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Deak K.L., Dickerson M.E., Linney E., Enterline D.S., George T.M., Melvin E.C., Graham F.L., Siegel D.G., Hammock P., Mehltretter L. et al. Birth Defects Res. Part A Clin. Mol. Teratol. 73:868-875(2005) · Mapped (4) |
| Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Zuechner S., Noureddine M., Kennerson M., Verhoeven K., Claeys K., De Jonghe P., Merory J., Oliveira S.A., Speer M.C., Stenger J.E. et al. |
| Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis. Sood R., Bader P.I., Speer M.C., Edwards Y.H., Eddings E.M., Blair R.T., Hu P., Faruque M.U., Robbins C.M., Zhang H. et al. Cytogenet. Genome Res. 106:61-67(2004) · Mapped (9) |
| Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. Rampersaud E., Melvin E.C., Siegel D., Mehltretter L., Dickerson M.E., George T.M., Enterline D., Nye J.S., Speer M.C. Clin. Genet. 63:210-214(2003) · Mapped (6) |
| Myotilin mutation found in second pedigree with LGMD1A. Hauser M.A., Conde C.B., Kowaljow V., Zeppa G., Taratuto A.L., Torian U.M., Vance J.M., Pericak-Vance M.A., Speer M.C., Rosa A.L. Am. J. Hum. Genet. 71:1428-1432(2002) · UniProtKB (1) · Mapped (2) |
| Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. Ahearn E.P., Speer M.C., Chen Y.T., Steffens D.C., Cassidy F., Van Meter S., Provenzale J.M., Weisler R.H., Krishnan K.R. Am. J. Med. Genet. 114:652-658(2002) · Mapped (3) |
| Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. White K.E., Evans W.E., O'Riordan J.L.H., Speer M.C., Econs M.J., Lorenz-Depiereux B., Grabowski M., Meitinger T., Strom T.M. |
| Myotilin is mutated in limb girdle muscular dystrophy 1A. Hauser M.A., Horrigan S.K., Salmikangas P., Torian U.M., Viles K.D., Dancel R., Tim R.W., Taivainen A., Bartoloni L., Gilchrist J.M. et al. Hum. Mol. Genet. 9:2141-2147(2000) · UniProtKB (2) · Mapped (3) |
| Allelic and locus heterogeneity in inherited venous malformations. Calvert J.T., Riney T.J., Kontos C.D., Cha E.H., Prieto V.G., Shea C.R., Berg J.N., Nevin N.C., Simpson S.A., Pasyk K.A. et al. Hum. Mol. Genet. 8:1279-1289(1999) · UniProtKB (1) |
| A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. Econs M.J., Friedman N.E., Rowe P.S.N., Speer M.C., Francis F., Strom T.M., Oudet C.L., Smith J.A., Ninomiya J.T., Lee B.E. et al. J. Clin. Endocrinol. Metab. 83:3459-3462(1998) · UniProtKB (1) |
| Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects. Stumpo D.J., Eddy R.L. Jr., Haley L.L., Sait S., Shows T.B., Lai W.S., Young W.S. III, Speer M.C., Dehejia A., Polymeropoulos M. et al. Genomics 49:253-264(1998) · UniProtKB (1) |
| Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan T.-C., Zhang R.-Z., Pericak-Vance M.A., Tandan R., Fries T., Stajich J.M., Viles K., Vance J.M., Chu M.-L., Speer M.C. Hum. Mol. Genet. 7:807-812(1998) · UniProtKB (1) · Mapped (2) |
| Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Joebsis G.J., Keizers H., Vreijling J.P., de Visser M., Speer M.C., Wolterman R.A., Baas F., Bohlhuis P.A. |
| Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Jabs E.W., Li X., Lovett M., Yamaoka L.H., Taylor E., Speer M.C., Coss C., Cadle R., Hall B., Brown K. Genomics 18:7-13(1993) · Mapped (10) |
| Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus. Econs M.J., Rowe P.S., Francis F., Barker D.F., Speer M.C., Norman M., Fain P.R., Weissenbach J., Read A., Davis K.E. J. Clin. Endocrinol. Metab. 79:1351-1354(1994) · Mapped (5) |
| Multilocus mapping of the X-linked hypophosphatemic rickets gene. Econs M.J., Barker D.F., Speer M.C., Pericak-Vance M.A., Fain P.R., Drezner M.K. J. Clin. Endocrinol. Metab. 75:201-206(1992) · Mapped (5) |