1 - 25 of 37 results for author:"Utermann G." in Literature citations
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| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L., Szymanska K., Jensen V.L., Janecke A.R., Innes A.M., Davis E.E., Frosk P., Li C., Willer J.R., Chodirker B.N. et al. Am. J. Hum. Genet. 89:713-730(2011) · UniProtKB (6) · Mapped (7) |
| Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Clayton P., Fischer B., Mann A., Mansour S., Rossier E., Veen M., Lang C., Baasanjav S., Kieslich M., Brossuleit K. et al. Nucleus 1:354-366(2010) · Mapped (2) |
| Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Ruemmele F.M., Muller T., Schiefermeier N., Ebner H.L., Lechner S., Pfaller K., Thoni C.E., Goulet O., Lacaille F., Schmitz J. et al. Hum. Mutat. 31:544-551(2010) · Mapped (7) |
| Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Dundar M., Muller T., Zhang Q., Pan J., Steinmann B., Vodopiutz J., Gruber R., Sonoda T., Krabichler B., Utermann G. et al. Am. J. Hum. Genet. 85:873-882(2009) · UniProtKB (1) |
| Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Miltenberger-Miltenyi G., Schwarzbraun T., Loscher W.N., Wanschitz J., Windpassinger C., Duba H.C., Seidl R., Albrecht G., Weirich-Schwaiger H., Zoller H. et al. Eur. J. Hum. Genet. 17:1154-1159(2009) · Mapped (7) |
| Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Heinz-Erian P., Mueller T., Krabichler B., Schranz M., Becker C., Rueschendorf F., Nuernberg P., Rossier B., Vujic M., Booth I.W. et al. Am. J. Hum. Genet. 84:188-196(2009) · UniProtKB (1) · Mapped (1) |
| MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Mueller T., Hess M.W., Schiefermeier N., Pfaller K., Ebner H.L., Heinz-Erian P., Ponstingl H., Partsch J., Roellinghoff B., Koehler H. et al. |
| Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Witsch-Baumgartner M., Schwentner I., Gruber M., Benlian P., Bertranpetit J., Bieth E., Chevy F., Clusellas N., Estivill X., Gasparini G. et al. J. Med. Genet. 45:200-209(2008) · Mapped (3) |
| The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Schuster A., Janecke A.R., Wilke R., Schmid E., Thompson D.A., Utermann G., Wissinger B., Zrenner E., Gal A. Invest. Ophthalmol. Vis. Sci. 48:1824-1831(2007) · Mapped (1) |
| Mutation spectrum of type I glycogen storage disease in Hungary. Miltenberger-Miltenyi G., Szonyi L., Balogh L., Utermann G., Janecke A.R. J. Inherit. Metab. Dis. 28:939-944(2005) · Mapped (7) |
| Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma. Loeffler-Ragg J., Witsch-Baumgartner M., Tzankov A., Hilbe W., Schwentner I., Sprinzl G.M., Utermann G., Zwierzina H. Eur. J. Cancer 42:109-111(2006) · Mapped (19) |
| Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Thompson D.A., Janecke A.R., Lange J., Feathers K.L., Hubner C.A., McHenry C.L., Stockton D.W., Rammesmayer G., Lupski J.R., Antinolo G. et al. Hum. Mol. Genet. 14:3865-3875(2005) · UniProtKB (1) |
| Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Witsch-Baumgartner M., Clayton P., Clusellas N., Haas D., Kelley R.I., Krajewska-Walasek M., Lechner S., Rossi M., Zschocke J., Utermann G. Hum. Mutat. 25:412-412(2005) · Mapped (3) |
| DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Ciara E., Nowaczyk M.J., Witsch-Baumgartner M., Malunowicz E., Popowska E., Jezela-Stanek A., Piotrowicz M., Waye J.S., Utermann G., Krajewska-Walasek M. Clin. Genet. 66:517-524(2004) · Mapped (3) |
| Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Witsch-Baumgartner M., Gruber M., Kraft H.G., Rossi M., Clayton P., Giros M., Haas D., Kelley R.I., Krajewska-Walasek M., Utermann G. J. Med. Genet. 41:577-584(2004) · Mapped (15) |
| Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Janecke A.R., Thompson D.A., Utermann G., Becker C., Huebner C.A., Schmid E., McHenry C.L., Nair A.R., Rueschendorf F., Heckenlively J. et al. Nat. Genet. 36:850-854(2004) · UniProtKB (1) |
| The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. Gunther B., Steiner A., Nekahm-Heis D., Albegger K., Zorowka P., Utermann G., Janecke A. Hum. Mutat. 22:180-180(2003) · Mapped (1) |
| Analysis of the apo(a) size polymorphism in Asian Indian populations: association with Lp(a) concentration and coronary heart disease. Geethanjali F.S., Luthra K., Lingenhel A., Kanagasaba-Pathy A.S., Jacob J., Srivastava L.M., Vasisht S., Kraft H.G., Utermann G. Atherosclerosis 169:121-130(2003) · Mapped (2) |
| Evidence of functional modulation of the MEKK/JNK/cJun signaling cascade by the low density lipoprotein receptor-related protein (LRP). Lutz C., Nimpf J., Jenny M., Boecklinger K., Enzinger C., Utermann G., Baier-Bitterlich G., Baier G. J. Biol. Chem. 277:43143-43151(2002) · Mapped (4) |
| Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. Janecke A.R., Hirst-Stadlmann A., Gunther B., Utermann B., Muller T., Loffler J., Utermann G., Nekahm-Heis D. Hum. Genet. 111:145-153(2002) · Mapped (3) |
| Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. Nezarati M.M., Loeffler J., Yoon G., MacLaren L., Fung E., Snyder F., Utermann G., Graham G.E. Am. J. Med. Genet. 110:103-108(2002) · Mapped (3) |
| Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain. Kapetanopoulos A., Fresser F., Millonig G., Shaul Y., Baier G., Utermann G. Mol. Genet. Genomics 267:440-446(2002) · Mapped (4) |
| Protein kinase C isoenzyme: selective expression pattern of protein kinase C-θ during mouse development. Wilda M., Ghaffari-Tabrizi N., Reisert I., Utermann G., Baier G., Hameister H. Mech. Dev. 103:197-200(2001) · Mapped (10) |
| Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J., Utermann G., Janecke A.R. Eur. J. Hum. Genet. 9:226-230(2001) · UniProtKB (1) · Mapped (2) |
| Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians. Ogorelkova M., Kraft H.G., Ehnholm C., Utermann G. Hum. Mol. Genet. 10:815-824(2001) · UniProtKB (5) |