1 - 25 of 89 results for author:"Beckmann J.S." in Literature citations
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| KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Golzio C., Willer J., Talkowski M.E., Oh E.C., Taniguchi Y., Jacquemont S., Reymond A., Sun M., Sawa A., Gusella J.F. et al. Nature 485:363-367(2012) · Mapped (4) |
| Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension. Guessous I., Dobrinas M., Kutalik Z., Pruijm M., Ehret G., Maillard M., Bergmann S., Beckmann J.S., Cusi D., Rizzi F. et al. Hum. Mol. Genet. 21:3283-3292(2012) · Mapped (2) |
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nikolaev S.I., Rimoldi D., Iseli C., Valsesia A., Robyr D., Gehrig C., Harshman K., Guipponi M., Bukach O., Zoete V. et al. Nat. Genet. 44:133-139(2012) · Mapped (8) |
| Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Salvi E., Kutalik Z., Glorioso N., Benaglio P., Frau F., Kuznetsova T., Arima H., Hoggart C., Tichet J., Nikitin Y.P. et al. Hypertension 59:248-255(2012) · Mapped (7) |
| Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Stankiewicz P., Kulkarni S., Dharmadhikari A.V., Sampath S., Bhatt S.S., Shaikh T.H., Xia Z., Pursley A.N., Cooper M.L., Shinawi M. et al. Hum. Mutat. 33:165-179(2012) · Mapped (9) |
| Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Kilpelainen T.O., Zillikens M.C., Stancakova A., Finucane F.M., Ried J.S., Langenberg C., Zhang W., Beckmann J.S., Luan J., Vandenput L. et al. Nat. Genet. 43:753-760(2011) · Mapped (1) |
| Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. Kutalik Z., Benyamin B., Bergmann S., Mooser V., Waeber G., Montgomery G.W., Martin N.G., Madden P.A., Heath A.C., Beckmann J.S. et al. Hum. Mol. Genet. 20:3710-3717(2011) · Mapped (9) |
| CUBN is a gene locus for albuminuria. CKDGen Consortium J. Am. Soc. Nephrol. 22:555-570(2011) · Mapped (5) |
| Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K., He Y., Paulding C. et al. Sci Transl Med 3:64ra1-64ra1(2011) · Mapped (8) |
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Procardis Consortium Nat. Genet. 42:937-948(2010) · Mapped (6) |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Heid I.M., Jackson A.U., Randall J.C., Winkler T.W., Qi L., Steinthorsdottir V., Thorleifsson G., Zillikens M.C., Speliotes E.K., Magi R. et al. Nat. Genet. 42:949-960(2010) · Mapped (60) |
| Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Hor H., Kutalik Z., Dauvilliers Y., Valsesia A., Lammers G.J., Donjacour C.E., Iranzo A., Santamaria J., Peraita Adrados R., Vicario J.L. et al. Nat. Genet. 42:786-789(2010) · Mapped (485) |
| Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. Kapur K., Johnson T., Beckmann N.D., Sehmi J., Tanaka T., Kutalik Z., Styrkarsdottir U., Zhang W., Marek D., Gudbjartsson D.F. et al. PLoS Genet. 6:e1001035-e1001035(2010) · Mapped (9) |
| Genetic male infertility and mutation of CATSPER ion channels. Hildebrand M.S., Avenarius M.R., Fellous M., Zhang Y., Meyer N.C., Auer J., Serres C., Kahrizi K., Najmabadi H., Beckmann J.S. et al. Eur. J. Hum. Genet. 18:1178-1184(2010) · Mapped (1) |
| Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice. de Preux Charles A.S., Verdier V., Zenker J., Peter B., Medard J.J., Kuntzer T., Beckmann J.S., Bergmann S., Chrast R. PLoS ONE 5:e10832-e10832(2010) · Mapped (7) |
| Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. Torri F., Akelai A., Lupoli S., Sironi M., Amann-Zalcenstein D., Fumagalli M., Dal Fiume C., Ben-Asher E., Kanyas K., Cagliani R. et al. FASEB J. 24:3066-3082(2010) · Mapped (7) |
| Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Rauch A., Kutalik Z., Descombes P., Cai T., Di Iulio J., Mueller T., Bochud M., Battegay M., Bernasconi E., Borovicka J. et al. Gastroenterology 138:1338-45, 2010:1345.e1-7(2010) · Mapped (6) |
| Common genetic variation and the control of HIV-1 in humans. Fellay J., Ge D., Shianna K.V., Colombo S., Ledergerber B., Cirulli E.T., Urban T.J., Zhang K., Gumbs C.E., Smith J.P. et al. PLoS Genet. 5:e1000791-e1000791(2009) · Mapped (1,770) |
| JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis. Abdelli S., Puyal J., Bielmann C., Buchillier V., Abderrahmani A., Clarke P.G., Beckmann J.S., Bonny C. Diabetologia 52:1871-1880(2009) · Mapped (19) |
| Association between C-reactive protein and adiposity in women. Bochud M., Marquant F., Marques-Vidal P.M., Vollenweider P., Beckmann J.S., Mooser V., Paccaud F., Rousson V. J. Clin. Endocrinol. Metab. 94:3969-3977(2009) · Mapped (7) |
| Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. Sevin M., Kutalik Z., Bergman S., Vercelletto M., Renou P., Lamy E., Vingerhoets F.J., Di Virgilio G., Boisseau P., Bezieau S. et al. J. Med. Genet. 46:818-824(2009) · Mapped (8) |
| Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. EUROSPAN Consortium PLoS Genet. 5:e1000504-e1000504(2009) · Mapped (32) |
| Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxova A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al. Am. J. Hum. Genet. 84:760-770(2009) · UniProtKB (2) · Mapped (1) |
| Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. Butticaz C., Werge T., Beckmann J.S., Cuenod M., Do K.Q., Rivolta C. Psychiatr. Genet. 19:201-208(2009) · Mapped (3) |
| Genome-wide association study identifies eight loci associated with blood pressure. Wellcome Trust Case Control Consortium Nat. Genet. 41:666-676(2009) · Mapped (91) |