Publications 2006
Aydin,A.; Toliat,M.R.; Bahring,S.; Becker,C.; Nurnberg,P. New universal primers facilitate Pyrosequencing. Electrophoresis 2006;27(2):394-397.
Bauerfeind,A.; Knoblauch,H.; Costanza,M.C.; Luganskaja,T.; Toliat,M.R.; Nurnberg,P.; Luft,F.C.; Reich,J.G.; Morabia,A. Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations. Hum Hered. 2006;61(3):123-131.
Brinckmann,A.; Ruther,K.; Williamson,K.; Lorenz,B.; Lucke,B.; Nurnberg,P.; Trijbels,F.; Janssen,A.; Schuelke,M. De novo double mutation in PAX6 and mtDNA tRNA ( Lys ) associated with atypical aniridia and mitochondrial disease. J Mol Med. 2006.
Chioza,B., Everett,K., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dulac,O., Durner,M., Eeg-Olofsson,O., Feucht,M., Friis,M., Heils,A., Kjeldsen,M., Larsson,K., Lehesjoki,A.E., Nabbout,R., Olsson,I., Sander,T., Siren,A., Robinson,R., Rees,M., and Gardiner,R.M. (2006). Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res. 69, 177-181.
Dempfle,A.; Wudy,S.A.; Saar,K.; Hagemann,S.; Friedel,S.; Scherag,A.; Berthold,L.D.; Alzen,G.; Gortner,L.; Blum,W.F.; Hinney,A.; Nurnberg,P.; Schafer,H.; Hebebrand,J. Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies. Hum Mol Genet. 2006;15(18):2772-2783.
ElSharawy,A.; Manaster,C.; Teuber,M.; Rosenstiel,P.; Kwiatkowski,R.; Huse,K.; Platzer,M.; Becker,A.; Nurnberg,P.; Schreiber,S.; Hampe,J. SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs. Hum Mutat. 2006;27(11):1129-1134.
Entz,P.; Blaumeiser,B.; Betz,R.C.; Lambert,J.; Seymons,K.; Eigelshoven,S.; Hanneken,S.; Kruse,R.; Nurnberg,P.; Nagy,M.; Nothen,M.M. Investigation of the HLA-DRB1 locus in alopecia areata. Eur J Dermatol. 2006;16(4):363-367.
Fehr,C., Sander,T., Tadic,A., Lenzen,K.P., Anghelescu,I., Klawe,C., Dahmen,N., Schmidt,L.G., and Szegedi,A. (2006). Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. Psychiatr. Genet. 16, 9-17.
Franke,A.; Wollstein,A.; Teuber,M.; Wittig,M.; Lu,T.; Hoffmann,K.; Nurnberg,P.; Krawczak,M.; Schreiber,S.; Hampe,J. GENOMIZER: an integrated analysis system for genome-wide association data. Hum Mutat. 2006;27(6):583-588.
Garshasbi,M.; Motazacker,M.M.; Kahrizi,K.; Behjati,F.; Abedini,S.S.; Nieh,S.E.; Firouzabadi,S.G.; Becker,C.; Ruschendorf,F.; Nurnberg,P.; Tzschach,A.; Vazifehmand,R.; Erdogan,F.; Ullmann,R.; Lenzner,S.; Kuss,A.W.; Ropers,H.H.; Najmabadi,H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum.Genet. 2006;118(6):708-715.
Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y. Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet. 2006;15(7):1087-1098.
Hasselbacher,K.; Wiggins,R.C.; Matejas,V.; Hinkes,B.G.; Mucha,B.; Hoskins,B.E.; Ozaltin,F.; Nurnberg,G.; Becker,C.; Hangan,D.; Pohl,M.; Kuwertz-Broking,E; Griebel,M.; Schumacher,V.; Royer-Pokora,B.; Bakkaloglu,A.; Nurnberg,P.; Zenker,M.; Hildebrandt,F. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70(6):1008-1012.
Hebebrand,J.; Dempfle,A.; Saar,K.; Thiele,H.; Herpertz-Dahlmann,B.; Linder,M.; Kiefl,H.; Remschmidt,H.; Hemminger,U.; Warnke,A.; Knolker,U.; Heiser,P.; Friedel,S.; Hinney,A.; Schafer,H.; Nurnberg,P.; Konrad,K. A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs. Mol Psychiatry. 2006;11(2):196-205.
Hempelmann,A., Heils,A., and Sander,T. (2006). Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. Epilepsy Res. 71, 223-228.
Hempelmann,A., Kumar,S., Muralitharan,S., and Sander,T. (2006). Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett. 402, 118-120.
Hempelmann,A.; Taylor,K.P.; Heils,A.; Lorenz,S.; Prud'homme,J.F.; Nabbout,R.; Dulac,O.; Rudolf,G.; Zara,F.; Bianchi,A.; Robinson,R.; Gardiner,R.M.; Covanis,A.; Lindhout,D.; Stephani,U.; Elger,C.E.; Weber,Y.G.; Lerche,H.; Nurnberg,P.; Kron,K.L.; Scheffer,I.E.; Mulley,J.C.; Berkovic,S.F.; Sander,T. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia. 2006;47(10):1682-1690.
Hinkes,B.; Wiggins,R.C.; Gbadegesin,R.; Vlangos,C.N.; Seelow,D.; Nurnberg,G.; Garg,P.; Verma,R.; Chaib,H.; Hoskins,B.E.; Ashraf,S.; Becker,C.; Hennies,H.C.; Goyal,M.; Wharram,B.L.; Schachter,A.D.; Mudumana,S.; Drummond,I.; Kerjaschki,D.; Waldherr,R.; Dietrich,A.; Ozaltin,F.; Bakkaloglu,A.; Cleper,R.; Basel-Vanagaite,L.; Pohl,M.; Griebel,M.; Tsygin,A.N.; Soylu,A.; Muller,D.; Sorli,C.S.; Bunney,T.D.; Katan,M.; Liu,J.; Attanasio,M.; O'toole,J.F.; Hasselbacher,K.; Mucha,B.; Otto,E.A.; Airik,R.; Kispert,A.; Kelley,G.G.; Smrcka,A.V.; Gudermann,T.; Holzman,L.B.; Nurnberg,P.; Hildebrandt,F. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006.
Kalay,E.; Li,Y.; Uzumcu,A.; Uyguner,O.; Collin,R.W.; Caylan,R.; Ulubil-Emiroglu,M.; Kersten,F.F.; Hafiz,G.; van,Wijk E.; Kayserili,H.; Rohmann,E.; Wagenstaller,J.; Hoefsloot,L.H.; Strom,T.M.; Nurnberg,G.; Baserer,N.; den Hollander,A.I.; Cremers,F.P.; Cremers,C.W.; Becker,C.; Brunner,H.G.; Nurnberg,P.; Karaguzel,A. Basaran,S.; Kubisch,C.; Kremer,H.; Wollnik,B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006;27(7):633-639.
Kirchheiner,J., Lang,U., Stamm,T., Sander,T., and Gallinat,J. (2006). Association of CYP2D6 genotypes and personality traits in healthy individuals. J Clin Psychopharmacol. 26, 440-442.
Konrad,M.; Schaller,A.; Seelow,D.; Pandey,A.V.; Waldegger,S.; Lesslauer,A.; Vitzthum,H.; Suzuki,Y.; Luk,J.M.; Becker,C.; Schlingmann,K.P.; Schmid,M.; Rodriguez-Soriano,J.; Ariceta,G.; Cano,F.; Enriquez,R.; Juppner,H.; Bakkaloglu,S.A.; Hediger,M.A.; Gallati,S.; Neuhauss,S.C.; Nurnberg,P.; Weber,S. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement. Am J Hum Genet. 2006;79(5):949-957.
Loeffler,J.; Steffens,M.; Arlt,E.M.; Toliat,M.R.; Mezger,M.; Suk,A.; Wienker,T.F.; Hebart,H.; Nurnberg,P.; Boeckh,M.; Ljungman,P.; Trenschel,R.; Einsele,H. Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation. J Clin Microbiol. 2006;44(5):1847-1850.
Lohoff,F.W., Dahl,J.P., Ferraro,T.N., Arnold,S.E., Gallinat,J., Sander,T., and Berrettini,W.H. (2006). Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder. Neuropsychopharmacology. 31, 2739-2747.
Lorenz,S., Heils,A., Taylor,K.P., Gehrmann,A., Muhle,H., Gresch,M., Becker,T., Tauer,U., Stephani,U., and Sander,T. (2006). Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Neurosci Lett. 397, 234-239.
Lorenz,S., Taylor,K.P., Gehrmann,A., Becker,T., Muhle,H., Gresch,M., Tauer,U., Sander,T., and Stephani,U. (2006). Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett. 400, 135-139.
Marschenz,S.; Endres,A.S.; Brinckmann,A.; Heise,T.; Kristiansen,G.; Nurnberg,P.; Kruger,D.H.; Gunther,S.; Meisel,H. Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis. Gastroenterology. 2006;131(3):765-780.
Rauch,A.; Hoyer,J.; Guth,S.; Zweier,C.; Kraus,C.; Becker,C.; Zenker,M.; Huffmeier,U.; Thiel,C.; Ruschendorf,F.; Nurnberg,P.; Reis,A.; Trautmann,U. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140(19):2063-2074.
Rohmann,E.; Brunner,H.G.; Kayserili,H.; Uyguner,O.; Nurnberg,G.; Lew,E.D.; Dobbie,A.; Eswarakumar,V.P.; Uzumcu,A.; Ulubil-Emeroglu,M.; Leroy,J.G.; Li,Y.; Becker,C.; Lehnerdt,K.; Cremers,C.W.; Yuksel-Apak,M.; Nurnberg,P.; Kubisch,C.; Schlessinger,J.; van,Bokhoven H.; Wollnik,B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006;38(4):414-417.
Ruf,N.; Dunzinger,U.; Brinckmann,A.; Haaf,T.; Nurnberg,P.; Zechner,U. Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes. Genomics 2006;87(4):509-519.
Sayer,J.A.; Otto,E.A.; O'toole,J.F.; Nurnberg,G.; Kennedy,M.A.; Becker,C.; Hennies,H.C.; Helou,J.; Attanasio,M.; Fausett,B.V.; Utsch,B.; Khanna,H.; Liu,Y.; Drummond,I.; Kawakami,I.; Kusakabe,T.; Tsuda,M.; Ma,L.; Lee,H.; Larson,R.G.; Allen,S.J.; Wilkinson,C.J.; Nigg,E.A.; Shou,C.; Lillo,C.; Williams,D.S.; Hoppe,B.; Kemper,M.J.; Neuhaus,T.; Parisi,M.A.; Glass,I.A.; Petry,M.; Kispert,A.; Gloy,J.; Ganner,A.; Walz,G.; Zhu,X.; Goldman,D.; Nurnberg,P.; Swaroop,A.; Leroux,M.R.; Hildebrandt F.The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.
Schirmer,M.; Toliat,M.R.; Haberl,M.; Suk,A.; Kamdem,L.K.; Klein,K.; Brockmoller,J.; Nurnberg,P.; Zanger,U.M.; Wojnowski,L. Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations. Pharmacogenet.Genomocs. 2006;16(1):59-71.
Steffens,M.; Lamina,C.; Illig,T.; Bettecken,T.; Vogler,R.; Entz,P.; Suk,E.K.; Toliat,M.R.; Klopp,N.; Caliebe,A.; Konig,I.R.; Kohler,K.; Ludemann,J.; Lacava,A.D.; Fimmers,R.; Lichtner,P.; Ziegler,A.; Wolf,A.; Krawczak,M.; Nurnberg,P.; Hampe,J.; Schreiber,S.; Meitinger,T.; Wichmann,H.E.; Roeder,K.; Wienker,T.F.; Baur,M.P. SNP-based analysis of genetic substructure in the German population. Hum Hered. 2006;62(1):20-29
Vanita,V.; Hennies,H.C.; Singh,D.; Nurnberg,P.; Sperling,K.; Singh,J.R. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol.Vis. 2006;12:1217-1222.
Vanita,V.; Hejtmancik,J.F.; Hennies,H.C.; Guleria,K.; Nurnberg,P.; Singh,D.; Sperling,K.; Singh,J.R. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis. 2006;12:93-99.
von Brevern,M., Ta,N., Shankar,A., Wiste,A., Siegel,A., Radtke,A., Sander,T., and Escayg,A. (2006). Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache. 46, 1136-1141.
Vormfelde,S.V.; Schirmer,M.; Hagos,Y.; Toliat,M.R.; Engelhardt,S.; Meineke,I.; Burckhardt,G.; Nurnberg,P.; Brockmoller,J. Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters. Br J Clin Pharmacol. 2006;62(3):323-335.
Vormfelde,S.V.; Schirmer,M.; Toliat,M.R.; Meineke,I.; Kirchheiner,J.; Nurnberg,P.; Brockmoller,J. Genetic variation at the CYP2C locus and its association with torsemide biotransformation. Pharmacogenomics J. 2006.
Widdig,A.; Nurnberg,P.; Bercovitch,F.B.; Trefilov,A.; Berard,J.B.; Kessler,M.J.; Schmidtke,J.; Streich,W.J.; Krawczak,M. Consequences of group fission for the patterns of relatedness among rhesus macaques. Mol Ecol. 2006;15(12):3825-3832.
Wycisk,K.A.; Budde,B.; Feil,S.; Skosyrski,S.; Buzzi,F.; Neidhardt,J.; Glaus,E.; Nurnberg,P.; Ruether,K.; Berger,W. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci. 2006;47(8):3523-3530.
Zheng,W.; Rosenstiel,P.; Huse,K.; Sina,C.; Valentonyte,R.; Mah,N.; Zeitlmann,L.; Grosse,J.; Ruf,N.; Nurnberg,P.; Costello,C.M.; Onnie,C.; Mathew,C.; Platzer,M.; Schreiber,S.; Hampe,J. Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease. Genes Immun. 2006;7(1):11-18.