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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 populationBone. 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 2Nat 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 populationArthritis Res Ther2005;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.