1 - 25 of 214 results for author:"Francke U." in Literature citations
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| Novel associations for hypothyroidism include known autoimmune risk loci. Eriksson N., Tung J.Y., Kiefer A.K., Hinds D.A., Francke U., Mountain J.L., Do C.B. PLoS ONE 7:e34442-e34442(2012) · Mapped (17) |
| Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. Campuzano V., Segura-Puimedon M., Terrado V., Sanchez-Rodriguez C., Coustets M., Menacho-Marquez M., Nevado J., Bustelo X.R., Francke U., Perez-Jurado L.A. PLoS Genet. 8:e1002458-e1002458(2012) · Mapped (6) |
| Control of bone formation by the serpentine receptor Frizzled-9. Albers J., Schulze J., Beil F.T., Gebauer M., Baranowsky A., Keller J., Marshall R.P., Wintges K., Friedrich F.W., Priemel M. et al. J. Cell Biol. 192:1057-1072(2011) · Mapped (9) |
| Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Stheneur C., Faivre L., Collod-Beroud G., Gautier E., Binquet C., Bonithon-Kopp C., Claustres M., Child A.H., Arbustini E., Ades L.C. et al. Pediatr. Res. 69:265-270(2011) · Mapped (6) |
| Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. Goergen C.J., Li H.H., Francke U., Taylor C.A. J. Vasc. Res. 48:119-129(2011) · Mapped (1) |
| Cardiovascular manifestations in men and women carrying a FBN1 mutation. Detaint D., Faivre L., Collod-Beroud G., Child A.H., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Eur. Heart J. 31:2223-2229(2010) · Mapped (6) |
| Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. Li H.H., Roy M., Kuscuoglu U., Spencer C.M., Halm B., Harrison K.C., Bayle J.H., Splendore A., Ding F., Meltzer L.A. et al. EMBO Mol Med 1:50-65(2009) · Mapped (20) |
| Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Faivre L., Collod-Beroud G., Callewaert B., Child A., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Am. J. Med. Genet. A 149A:854-860(2009) · Mapped (6) |
| Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Faivre L., Masurel-Paulet A., Collod-Beroud G., Callewaert B.L., Child A.H., Stheneur C., Binquet C., Gautier E., Chevallier B., Huet F. et al. Pediatrics 123:391-398(2009) · Mapped (6) |
| Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Faivre L., Collod-Beroud G., Callewaert B., Child A., Binquet C., Gautier E., Loeys B.L., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Eur. J. Hum. Genet. 17:491-501(2009) · Mapped (6) |
| Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Schule B., Armstrong D.D., Vogel H., Oviedo A., Francke U. Clin. Genet. 74:116-126(2008) · Mapped (15) |
| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. J. Med. Genet. 45:384-390(2008) · Mapped (6) |
| Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. Belichenko N.P., Belichenko P.V., Li H.H., Mobley W.C., Francke U. J. Comp. Neurol. 508:184-195(2008) · Mapped (1) |
| DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Schule B., Li H.H., Fisch-Kohl C., Purmann C., Francke U. Am. J. Hum. Genet. 81:492-506(2007) · Mapped (23) |
| Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Am. J. Hum. Genet. 81:454-466(2007) · Mapped (6) |
| Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. Jordan C., Li H.H., Kwan H.C., Francke U. BMC Med. Genet. 8:36-36(2007) · Mapped (1) |
| Mechanisms of disease: neurogenetics of MeCP2 deficiency. Francke U. Nat Clin Pract Neurol 2:212-221(2006) · Mapped (15) |
| Ube3a expression is not altered in Mecp2 mutant mice. Jordan C., Francke U. Hum. Mol. Genet. 15:2210-2215(2006) · Mapped (8) |
| Identification of cis-regulatory elements for MECP2 expression. Liu J., Francke U. Hum. Mol. Genet. 15:1769-1782(2006) · Mapped (16) |
| NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Arron J.R., Winslow M.M., Polleri A., Chang C.P., Wu H., Gao X., Neilson J.R., Chen L., Heit J.J., Kim S.K. et al. Nature 441:595-600(2006) · Mapped (54) |
| Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Schuele B., Oviedo A., Johnston K., Pai S., Francke U. Am. J. Hum. Genet. 77:1117-1128(2005) · UniProtKB (1) · Mapped (1) |
| Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Ding F., Prints Y., Dhar M.S., Johnson D.K., Garnacho-Montero C., Nicholls R.D., Francke U. Mamm. Genome 16:424-431(2005) · Mapped (4) |
| Frizzled 9 knock-out mice have abnormal B-cell development. Ranheim E.A., Kwan H.C., Reya T., Wang Y.K., Weissman I.L., Francke U. Blood 105:2487-2494(2005) · Mapped (1) |
| frizzled 9 is expressed in neural precursor cells in the developing neural tube. Van Raay T.J., Wang Y.K., Stark M.R., Rasmussen J.T., Francke U., Vetter M.L., Rao M.S. Dev. Genes Evol. 211:453-457(2001) · Mapped (5) |
| Evolutionary relationships among Rel domains indicate functional diversification by recombination. Graef I.A., Gastier J.M., Francke U., Crabtree G.R. Proc. Natl. Acad. Sci. U.S.A. 98:5740-5745(2001) · UniProtKB (1) · Mapped (8) |