2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005
Publications 2005
Bertrand,D., Elmslie,F., Hughes,E., Trounce,J., Sander,T., Bertrand,S., and Steinlein,O.K. (2005). The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 20, 799-804.
Entz,P.; Toliat,M.R.; Hampe,J.; Valentonyte,R.; Jenisch,S.; Nurnberg,P.; Nagy,M. New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing. Tissue Antigens. 2005;65(1):67-80.
Godde,R.; Rohde,K.; Becker,C.; Toliat,M.R.; Entz,P.; Suk,A.; Muller,N.; Sindern,E.; Haupts,M.; Schimrigk,S.; Nurnberg,P.; Epplen,J.T. Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips. J Mol Med. 2005;83(6):486-494.
Graw,J.; Loster,J.; Puk,O.; Munster,D.; Haubst,N.; Soewarto,D.; Fuchs,H.; Meyer,B.; Nurnberg,P.; Pretsch,W.; Selby,P.; Favor,J.; Wolf,E.; Hrabe de Angelis, M. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Invest Ophthalmol Vis Sci. 2005;46(12):4671-4683.
Gu,W., Sander,T., Heils,A., Lenzen,K.P., and Steinlein,O.K. (2005). A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Epilepsy Res. 66, 91-98.
Jenne,D.E.; Kley,R.A.; Vorgerd,M.; Schroder,J.M.; Weis,J.; Reimann,H.; Albrecht,B.; Nurnberg,P.; Thiele,H.; Muller,C.R.; Meng,G.; Witt,C.C.; Labeit,S. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem. 2005;386(1):61-67.
Kulle,B.; Schirmer,M.; Toliat,M.R.; Suk,A.; Becker,C.; Tzvetkov,M.V.; Brockmoller,J.; Bickeboller,H.; Hasenfuss,G.; Nurnberg,P.; Wojnowski,L. Application of genomewide SNP arrays for detection of simulated susceptibility loci. Hum Mutat. 2005;25(6):557-565.
Kurz,T.; Altmueller,J.; Strauch,K.; Ruschendorf,F.; Heinzmann,A.; Moffatt,M.F.; Cookson,W.O.; Inacio,F.; Nurnberg,P.; Stassen,H.H.; Deichmann,K.A. A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy. 2005;60(2):192-199.
Lang,U.E., Hellweg,R., Kalus,P., Bajbouj,M., Lenzen,K.P., Sander,T., Kunz,D., and Gallinat,J. (2005). Association of a functional BDNF polymorphism and anxiety-related personality traits. Psychopharmacology (Berl). 180, 95-99.
Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., Hofels,S., Lohoff,F.W., Schmitz,B., and Sander,T. (2005). Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res. 63, 113-118.
Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., and Sander,T. (2005). Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia. 46, 1637-1641.
Lenzen,K.P., Heils,A., Lorenz,S., Hempelmann,A., and Sander,T. (2005). Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. Epilepsy Res. 65, 53-57.
Lohoff,F.W., Ferraro,T.N., Sander,T., Zhao,H., Dahl,J.P., Berrettini,W.H., and Buono,R.J. (2005). No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Neurosci Lett. 382, 33-38.
Lohoff,F.W., Sander,T., Ferraro,T.N., Dahl,J.P., Gallinat,J., and Berrettini,W.H. (2005). Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet. 139B, 51-53.
Malkin,I.; Dahm,S.; Suk,A.; Kobyliansky,E.; Toliat,M.; Ruf,N.; Livshits,G.; Nurnberg,P. Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population. Bone. 2005;36(2):365-373.
Metherell,L.A.; Chapple,J.P.; Cooray,S.; David,A.; Becker,C.; Ruschendorf,F.; Naville,D.; Begeot,M.; Khoo,B.; Nurnberg,P.; Huebner,A.; Cheetham,M.E.; Clark,A.J. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005;37(2):166-170.
Neubauer,B.A., Waltz,S., Grothe,M., Hahn,A., Tuxhorn,I., Sander,T., Kurlemann,G., and Stephani,U. (2005). Photosensitivity: genetics and clinical significance. Adv. Neurol. 95,217-226.
Reinhard C, Meyer B, Fuchs H, Stoeger,T.; Eder,G.; Ruschendorf,F.; Heyder,J.; Nurnberg,P.; de Angelis,M.H.; Schulz,H.
Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics. 2005;21(9):2123-2125.
Schmitt,B., Wohlrab,G., Sander,T., Steinlein,O.K., and Hajnal,B.L. (2005). Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res. 65, 161-168.
Schumacher,J.; Kaneva,R.; Jamra,R.A.; Diaz,G.O.; Ohlraun,S.; Milanova,V.; Lee,Y.A.; Rivas,F.; Mayoral,F.; Fuerst,R., Flaquer,A.; Windemuth,C.; Gay,E.; Sanz,S.; Gonzalez,M.J.; Gil,S.; Cabaleiro,F.; del,Rio F.; Perez,F.; Haro,J.; Kostov,C.; Chorbov,V. Nikolova-Hill,A.; Stoyanova,V.; Onchev,G.; Kremensky,I.; Strauch,K.; Schulze,T.G.; Nurnberg,P.; Gaebel,W.; Klimke,A.; Auburger,G.; Wienker,T.F.; Kalaydjieva,L.; Propping,P.; Cichon,S.; Jablensky,A.; Rietschel,M.; Nothen,M.M.Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24. Am J Hum Genet. 2005;77(6):1102-1111.
Straussberg R, Basel-Vanagaite L,, Kivity S Dabby,R.; Cirak,S.; Nurnberg,P.; Voit,T.; Mahajnah,M.; Inbar,D.; Saifi,G.M.; Lupski,J.R.; Delague,V.; Megarbane,A.; Richter,A.; Leshinsky,E.; Berkovic,S.F.An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005;64(1):142-144.
Suk,E.K.; Malkin,I.; Dahm,S.; Kalichman,L.; Ruf,N.; Kobyliansky,E.; Toliat,M.; Rutsch,F.; Nurnberg,P.; Livshits,G. Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population. Arthritis Res Ther. 2005;7(5):R1082-R1090.
Tadic,A., Dahmen,N., Szegedi,A., Rujescu,D., Giegling,I., Koller,G., Anghelescu,I., Fehr,C., Klawe,C., Preuss,U.W., Sander,T., Toliat,M.R., Singer,P., Bondy,B., and Soyka,M. (2005). Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens. Eur Arch Psychiatry Clin Neurosci. 255, 129-135.
Tauer,U.; Lorenz,S.; Lenzen,K.P.; Heils,A.; Muhle,H.; Gresch,M.; Neubauer,B.A.; Waltz,S.; Rudolf,G.; Mattheisen,M.; Strauch,K.; Nurnberg,P.; Schmitz,B.; Stephani,U.; Sander,T. Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann:Neurol. 2005;57(6): 866-873.
Tukel,T.; Uzumcu,A.; Gezer,A.; Kayserili,H.; Yuksel-Apak,M.; Uyguner,O.; Gultekin,S.H.; Hennies,H.C.; Nurnberg,P.; Desnick,R.J.; Wollnik,B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005;42(5):408-415.
Tzvetkov MV, Becker C, Kulle B, Nurnberg P, Brockmoller J, Wojnowski L. Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis. 2005;26(3):710-715.
Weber,S.; Mir,S.; Schlingmann,K.P.; Nurnberg,G.; Becker,C.; Kara,P.E.; Ozkayin,N.; Konrad,M.; Nurnberg,P.; Schaefer,F. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. Pediatr. Nephrol. 2005; 20(8): 1036-1042.
Wojnowski,L.; Kulle,B.; Schirmer,M.; Schluter,G.; Schmidt,A.; Rosenberger,A.; Vonhof,S.; Bickeboller,H.; Toliat,M.R.; Suk,E.K.; Tzvetkov,M.; Kruger,A.; Seifert,S.; Kloess,M.; Hahn,H.; Loeffler,M.; Nurnberg,P.; Pfreundschuh,M.; Trumper,L.; Brockmoller,J.; Hasenfuss,G. NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation 2005;112(24):3754-3762.
Wolf,M.T.; Zalewski,I.; Martin,F.C.; Ruf,R.; Muller,D.; Hennies,H.C.; Schwarz,S.; Panther,F.; Attanasio,M.; Acosta,H.G.; Imm,A.; Lucke,B.; Utsch,B.; Otto,E.; Nurnberg,P.; Nieto,V.G.; Hildebrandt,F. Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant. 2005;20(5):909-914.
zur,Stadt U.; Schmidt,S.; Kasper,B.; Beutel,K.; Diler,A.S.; Henter,J.I.; Kabisch,H.; Schneppenheim,R.; Nurnberg,P.; Janka,G.; Hennies,H.C. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-834.