1 - 25 of 44 results for author:"Thiele H." in Literature citations
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| Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Basel-Vanagaite L., Dallapiccola B., Ramirez-Solis R., Segref A., Thiele H., Edwards A., Arends M.J., Miro X., White J.K., Desir J. et al. Am. J. Hum. Genet. 91:998-1010(2012) · Mapped (4) |
| eIF2gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Borck G., Shin B.S., Stiller B., Mimouni-Bloch A., Thiele H., Kim J.R., Thakur M., Skinner C., Aschenbach L., Smirin-Yosef P. et al. Mol. Cell 48:641-646(2012) · Mapped (5) |
| Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Coelho D., Kim J.C., Miousse I.R., Fung S., du Moulin M., Buers I., Suormala T., Burda P., Frapolli M., Stucki M. et al. Nat. Genet. 44:1152-1155(2012) · UniProtKB (1) |
| Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Rosewich H., Thiele H., Ohlenbusch A., Maschke U., Altmuller J., Frommolt P., Zirn B., Ebinger F., Siemes H., Nurnberg P. et al. Lancet Neurol 11:764-773(2012) · Mapped (12) |
| Genetic variation in the neuropeptide Y gene promoter is associated with increased risk of tobacco smoking. Mutschler J., Abbruzzese E., von der Goltz C., Dinter C., Mobascher A., Thiele H., Diaz-Lacava A., Dahmen N., Gallinat J., Majic T. et al. Eur Addict Res 18:246-252(2012) · Mapped (2) |
| A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Hussain M.S., Baig S.M., Neumann S., Nurnberg G., Farooq M., Ahmad I., Alef T., Hennies H.C., Technau M., Altmuller J. et al. Am. J. Hum. Genet. 90:871-878(2012) · UniProtKB (1) |
| Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Asharani P.V., Keupp K., Semler O., Wang W., Li Y., Thiele H., Yigit G., Pohl E., Becker J., Frommolt P. et al. Am. J. Hum. Genet. 90:661-674(2012) · UniProtKB (1) · Mapped (16) |
| Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating. Quednow B.B., Brinkmeyer J., Mobascher A., Nothnagel M., Musso F., Grunder G., Savary N., Petrovsky N., Frommann I., Lennertz L. et al. Proc. Natl. Acad. Sci. U.S.A. 109:6271-6276(2012) · Mapped (15) |
| Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Weber S., Thiele H., Mir S., Toliat M.R., Sozeri B., Reutter H., Draaken M., Ludwig M., Altmuller J., Frommolt P. et al. Am. J. Hum. Genet. 89:668-674(2011) · UniProtKB (1) · Mapped (3) |
| Platelet inhibition and GP IIb/IIIa receptor occupancy by intracoronary versus intravenous bolus administration of abciximab in patients with ST-elevation myocardial infarction. Desch S., Siegemund A., Scholz U., Adam N., Eitel I., de Waha S., Furnau G., Lurz P., Wetzel S., Schuler G. et al. Clin Res Cardiol 101:117-124(2012) · Mapped (11) |
| Impact of N-acetylcysteine on contrast-induced nephropathy defined by cystatin C in patients with ST-elevation myocardial infarction undergoing primary angioplasty. Droppa M., Desch S., Blase P., Eitel I., Fuernau G., Schuler G., Adams V., Thiele H. Clin Res Cardiol 100:1037-1043(2011) · Mapped (2) |
| Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Huebner A.K., Gandia M., Frommolt P., Maak A., Wicklein E.M., Thiele H., Altmuller J., Wagner F., Vinuela A., Aguirre L.A. et al. Am. J. Hum. Genet. 88:621-627(2011) · UniProtKB (1) |
| Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Thiele H., du Moulin M., Barczyk K., George C., Schwindt W., Nurnberg G., Frosch M., Kurlemann G., Roth J., Nurnberg P. et al. Hum. Mutat. 31:E1836-E1850(2010) · UniProtKB (1) · Mapped (2) |
| The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulation. Mobascher A., Brinkmeyer J., Thiele H., Toliat M.R., Steffens M., Warbrick T., Musso F., Wittsack H.J., Saleh A., Schnitzler A. et al. Mol Pain 6:32-32(2010) · Mapped (7) |
| RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Henneke M., Diekmann S., Ohlenbusch A., Kaiser J., Engelbrecht V., Kohlschutter A., Kratzner R., Madruga-Garrido M., Mayer M., Opitz L. et al. |
| CETP polymorphisms influence cholesterol metabolism but not Alzheimer's disease risk. Qureischie H., Heun R., Lutjohann D., Popp J., Jessen F., Ledschbor-Frahnert C., Thiele H., Maier W., Hentschel F., Kelemen P. et al. Brain Res. 1232:1-6(2008) · Mapped (6) |
| Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Netzer C., Freudenberg J., Toliat M.R., Heinze A., Heinze-Kuhn K., Thiele H., Goebel I., Nurnberg P., Ptacek L.J., Gobel H. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B:37-41(2008) · Mapped (3) |
| A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs. Hebebrand J., Dempfle A., Saar K., Thiele H., Herpertz-Dahlmann B., Linder M., Kiefl H., Remschmidt H., Hemminger U., Warnke A. et al. Mol. Psychiatry 11:196-205(2006) · Mapped (3) |
| A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Pfister M., Thiele H., Van Camp G., Fransen E., Apaydin F., Aydin O., Leistenschneider P., Devoto M., Zenner H.P., Blin N. et al. Cell. Physiol. Biochem. 14:369-376(2004) · UniProtKB (1) |
| Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Hoehne W., Ritter H., Leschik G., Nuernberg P., Mundlos S. Proc. Natl. Acad. Sci. U.S.A. 101:10155-10160(2004) · UniProtKB (1) · Mapped (2) |
| Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg B., Schuelke M., Rueschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloglu H. et al. Am. J. Hum. Genet. 75:251-260(2004) · UniProtKB (1) |
| Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Wieland I., Jakubiczka S., Muschke P., Cohen M., Thiele H., Gerlach K.L., Adams R.H., Wieacker P. Am. J. Hum. Genet. 74:1209-1215(2004) · UniProtKB (1) · Mapped (2) |
| Phenotypic characterization of a DFNA6 family with low-frequency hearing loss. Toth T., Kupka S., Nurnberg P., Thiele H., Zenner H.P., Sziklai I., Pfister M. HNO 52:132-136(2004) · Mapped (2) |
| Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Cryns K., Pfister M., Pennings R.J., Bom S.J., Flothmann K., Caethoven G., Kremer H., Schatteman I., Koln K.A., Toth T. et al. Hum. Genet. 110:389-394(2002) · Mapped (2) |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel C.F., Takashima H., John J., Yan J., Stankiewicz P., Rosenbarker L., Andre J.-L., Bogdanovic R., Burguet A., Cockfield S. et al. |