18 results for author:"Evgrafov O." in Literature citations
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| The conserved SKN-1/Nrf2 stress response pathway regulates synaptic function in Caenorhabditis elegans. Staab T.A., Griffen T.C., Corcoran C., Evgrafov O., Knowles J.A., Sieburth D. PLoS Genet. 9:e1003354-e1003354(2013) · Mapped (3) |
| Genome-wide association study of recurrent early-onset major depressive disorder. Shi J., Potash J.B., Knowles J.A., Weissman M.M., Coryell W., Scheftner W.A., Lawson W.B., DePaulo J.R. Jr., Gejman P.V., Sanders A.R. et al. Mol. Psychiatry 16:193-201(2011) · Mapped (49) |
| Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study. Voyiaziakis E., Evgrafov O., Li D., Yoon H.J., Tabares P., Samuels J., Wang Y., Riddle M.A., Grados M.A., Bienvenu O.J. et al. Mol. Psychiatry 16:108-120(2011) · Mapped (3) |
| Association and linkage analysis of candidate genes GRP, GRPR, CRHR1, and TACR1 in panic disorder. Hodges L.M., Weissman M.M., Haghighi F., Costa R., Bravo O., Evgrafov O., Knowles J.A., Fyer A.J., Hamilton S.P. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B:65-73(2009) · Mapped (18) |
| Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Verma R., Holmans P., Knowles J.A., Grover D., Evgrafov O.V., Crowe R.R., Scheftner W.A., Weissman M.M., DePaulo J.R. Jr., Potash J.B. et al. Biol. Psychiatry 63:1185-1189(2008) · Mapped (20) |
| Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Evgrafov O.V., Mersiyanova I., Irobi J., Van Den Bosch L., Dierick I., Leung C.L., Schagina O., Verpoorten N., Van Impe K., Fedotov V. et al. |
| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Zuechner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., Zappia M., Nelis E., Patitucci A., Senderek J. et al. |
| BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Pal D.K., Evgrafov O.V., Tabares P., Zhang F., Durner M., Greenberg D.A. Am. J. Hum. Genet. 73:261-270(2003) · Mapped (5) |
| A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. Fofanova O.V., Evgrafov O.V., Polyakov A.V., Poltaraus A.B., Peterkova V.A., Dedov I.I. J. Clin. Endocrinol. Metab. 88:820-826(2003) · Mapped (7) |
| Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Polyakov A.V., Shagina I.A., Khlebnikova O.V., Evgrafov O.V. Clin. Genet. 60:476-478(2001) · UniProtKB (1) |
| Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Boneschi F.M., Choi C., Morozov P., Das K., Teplitskaya E. et al. |
| On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe. Anichkina A., Kulenich T., Zinchenko S., Shagina I., Polyakov A., Ginter E., Evgrafov O., Viktorova T., Khusnitdonova E. Eur. J. Hum. Genet. 9:151-151(2001) · Mapped (3) |
| Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. De Jonghe P., Mersivanova I., Nelis E., Del Favero J., Martin J.-J., Van Broeckhoven C., Evgrafov O., Timmerman V. Ann. Neurol. 49:245-249(2001) · UniProtKB (1) |
| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Mersiyanova I.V., Perepelov A.V., Polyakov A.V., Sitnikov V.F., Dadali E.L., Oparin R.B., Petrin A.N., Evgrafov O.V. Am. J. Hum. Genet. 67:37-46(2000) · UniProtKB (1) |
| Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V. Hum. Mutat. 15:340-347(2000) · UniProtKB (3) |
| Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A. et al. Am. J. Hum. Genet. 61:317-328(1997) · UniProtKB (1) |
| Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome. Tverskaya S., Bobrynina V., Tsalykova F., Ignatova M., Krasnopolskaya X., Evgrafov O. Hum. Mutat. 7:149-150(1996) · UniProtKB (1) |
| The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M. et al. Nat. Genet. 5:344-350(1993) · UniProtKB (1) |