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A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2.
Published in:
Diabetologia, 2007, v. 50, n. 7, p. 1418, doi. 10.1007/s00125-007-0658-4
By:
- Hoffmann, K.;
- Mattheisen, M.;
- Dahm, S.;
- Nürnberg, P.;
- Roe, C.;
- Johnson, J.;
- Cox, N.;
- Wichmann, H.;
- Wienker, T.;
- Schulze, J.;
- Schwarz, P.;
- Lindner, T.
Publication type:
Article
<italic>CKAP2L</italic> mutation confirms the diagnosis of Filippi syndrome.
Published in:
2018
By:
- Capecchi, G.;
- Ferranti, S.;
- Guidoni, E.;
- Cioni, M.;
- Grosso, S.;
- Baldassarri, M.;
- Renieri, A.;
- Mencarelli, M. A.;
- Nürnberg, P.
Publication type:
Letter to the Editor
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Published in:
Clinical Genetics, 2018, v. 93, n. 1, p. 149, doi. 10.1111/cge.13022
By:
- Khan, A. O.;
- Budde, B. S.;
- Nürnberg, P.;
- Kawalia, A.;
- Lenzner, S.;
- Bolz, H. J.
Publication type:
Article
Genetic heterogeneity in Pakistani microcephaly families revisited.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 62, doi. 10.1111/cge.12955
By:
- Ahmad, I.;
- Baig, S. M.;
- Abdulkareem, A. R.;
- Hussain, M. S.;
- Sur, I.;
- Toliat, M. R.;
- Nürnberg, G.;
- Dalibor, N.;
- Moawia, A.;
- Waseem, S. S.;
- Asif, M.;
- Nagra, H.;
- Sher, M.;
- Khan, M. M. A.;
- Hassan, I.;
- Rehman, S. ur;
- Thiele, H.;
- Altmüller, J.;
- Noegel, A. A.;
- Nürnberg, P.
Publication type:
Article
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Published in:
Clinical Genetics, 2016, v. 89, n. 4, p. 517, doi. 10.1111/cge.12678
By:
- Moosa, S.;
- Chung, B. H.‐Y.;
- Tung, J. Y.‐L.;
- Altmüller, J.;
- Thiele, H.;
- Nürnberg, P.;
- Netzer, C.;
- Nishimura, G.;
- Wollnik, B.
Publication type:
Article
The importance of genetic susceptibility in Dupuytren's disease.
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 483, doi. 10.1111/cge.12410
By:
- Becker, K.;
- Tinschert, S.;
- Lienert, A.;
- Bleuler, P.E.;
- Staub, F.;
- Meinel, A.;
- Rößler, J.;
- Wach, W.;
- Hoffmann, R.;
- Kühnel, F.;
- Damert, H.‐G.;
- Nick, H.‐E.;
- Spicher, R.;
- Lenze, W.;
- Langer, M.;
- Nürnberg, P.;
- Hennies, H.C.
Publication type:
Article
Genetic heterogeneity in Pakistani microcephaly families.
Published in:
Clinical Genetics, 2013, v. 83, n. 5, p. 446, doi. 10.1111/j.1399-0004.2012.01932.x
By:
- Sajid Hussain, M;
- Marriam Bakhtiar, S;
- Farooq, M;
- Anjum, I;
- Janzen, E;
- Reza Toliat, M;
- Eiberg, H;
- Kjaer, KW;
- Tommerup, N;
- Noegel, AA;
- Nürnberg, P;
- Baig, SM;
- Hansen, L
Publication type:
Article
First HPSE2 missense mutation in urofacial syndrome.
Published in:
Clinical Genetics, 2012, v. 81, n. 1, p. 88, doi. 10.1111/j.1399-0004.2011.01649.x
By:
- Mahmood, S;
- Beetz, C;
- Tahir, MM;
- Imran, M;
- Mumtaz, R;
- Bassmann, I;
- Jahic, A;
- Malik, M;
- Nürnberg, G;
- Hassan, SAA;
- Rana, S;
- Nürnberg, P;
- Hübner, CA
Publication type:
Article
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3.
Published in:
Clinical Genetics, 2007, v. 71, n. 3, p. 212, doi. 10.1111/j.1399-0004.2007.00762.x
By:
- Uyguner, O.;
- Kayserili, H.;
- Li, Y.;
- Karaman, B.;
- Nürnberg, G.;
- Hennies, H. C.;
- Becker, C.;
- Nürnberg, P.;
- Başaran, S.;
- Apak, M. Y.;
- Wollnik, B.
Publication type:
Article
Genetic variation at the CYP2C locus and its association with torsemide biotransformation.
Published in:
Pharmacogenomics Journal, 2007, v. 7, n. 3, p. 200, doi. 10.1038/sj.tpj.6500410
By:
- Vormfelde, S. V.;
- Schirmer, M.;
- Toliat, M. R.;
- Meineke, I.;
- Kirchheiner, J.;
- Nürnberg, P.;
- Brockmöller, J.
Publication type:
Article
Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA.
Published in:
Nucleic Acids Research, 2011, v. 39, n. 14, p. 6044, doi. 10.1093/nar/gkr180
By:
- Bundschuh, R.;
- Altmüller, J.;
- Becker, C.;
- Nürnberg, P.;
- Gott, J. M.
Publication type:
Article
Corrigendum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy.
Published in:
2004
By:
- Janecke, A. R.;
- Thompson, D. A.;
- Utermann, G.;
- Becker, C.;
- Hübner, C. A.;
- Schmid, E.;
- McHenry, C. L.;
- Nair, A. R.;
- Rüschendorf, F.;
- Heckenlively, J.;
- Wissinger, B.;
- Nürnberg, P.;
- Gal, A.
Publication type:
Correction Notice
Paternity assessment in rhesus macaques (Macaca mulatta ): Multilocus DNA fingerprinting and PCR marker typing.
Published in:
American Journal of Primatology, 1998, v. 44, n. 1, p. 1
By:
- Nürnberg, P.;
- Sauermann, U.;
- Kayser, M.;
- Lanfer, C.;
- Manz, E.;
- Widdig, A.;
- Berard, J.;
- Bercovitch, F. B.;
- Kessler, M.;
- Schmidtke, J.;
- Krawczak, M.
Publication type:
Article
Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques.
Published in:
Genes & Immunity, 2008, v. 9, n. 1, p. 69, doi. 10.1038/sj.gene.6364448
By:
- Sauermann, U.;
- Siddiqui, R.;
- Suh, Y.-S.;
- Platzer, M.;
- Leuchte, N.;
- Meyer, H.;
- Mätz-Rensing, K.;
- Stoiber, H.;
- Nürnberg, P.;
- Hunsmann, G.;
- Stahl-Hennig, C.;
- Krawczak, M.
Publication type:
Article
Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Published in:
Genes & Immunity, 2006, v. 7, n. 1, p. 11, doi. 10.1038/sj.gene.6364263
By:
- Zheng, W.;
- Rosenstiel, P.;
- Huse, K.;
- Sina, C.;
- Valentonyte, R.;
- Mah, N.;
- Zeitlmann, L.;
- Grosse, J.;
- Ruf, N.;
- Nürnberg, P.;
- Costello, C. M.;
- Onnie, C.;
- Mathew, C.;
- Platzer, M.;
- Schreiber, S.;
- Hampe, J.
Publication type:
Article
Singleton-Merten Syndrome: a rare autoimmune disorder caused by a specific IFIH1 mutation.
Published in:
2015
By:
- Buers, I;
- Nitschke, Y;
- Hennekam, RC;
- MacDougall, M;
- Lu, C;
- Mamaeva, O;
- Rice, GI;
- Erlandsen, H;
- Kehl, HG;
- Thiele, H;
- Nürnberg, P;
- Höhne, W;
- Crow, YJ;
- Feigenbaum, A;
- Rutsch, F
Publication type:
Abstract
The Polymorphisms Asn130Asp and Val174Ala in OATP1B1 and the CYP2C9 Allele *3 Independently Affect Torsemide Pharmacokinetics and Pharmacodynamics.
Published in:
2008
By:
- Vormfelde, S. V.;
- Toliat, M. R.;
- Schirmer, M.;
- Meineke, I.;
- Nürnberg, P.;
- Brockmöller, J.
Publication type:
Letter
Presynaptic α-2C Adrenoceptor-mediated Control of Noradrenaline Release in Humans: Genotype- or Age-Dependent?
Published in:
Clinical Pharmacology & Therapeutics, 2007, v. 82, n. 5, p. 525, doi. 10.1038/sj.clpt.6100181
By:
- Bruck, H.;
- Schwerdtfeger, T.;
- Toliat, M.;
- Leineweber, K.;
- Heusch, G.;
- Philipp, T.;
- Nürnberg, P.;
- Brodde, O.-E.
Publication type:
Article
Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs.
Published in:
Clinical Pharmacology & Therapeutics, 2007, v. 82, n. 3, p. 300, doi. 10.1038/sj.clpt.6100131
By:
- Vormfelde, S. V.;
- Sehrt, D.;
- Toliat, M. R.;
- Schirmer, M.;
- Meineke, I.;
- Tzvetkov, M.;
- Nürnberg, P.;
- Brockmöller, J.
Publication type:
Article
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Published in:
Journal of Molecular Medicine, 2004, v. 82, n. 6, p. 398, doi. 10.1007/s00109-004-0538-z
By:
- Pusch, C. M.;
- Meyer, B.;
- Kupka, S.;
- Smith, R. J.;
- Lalwani, A. K.;
- Zenner, H.-P.;
- Blin, N.;
- Nürnberg, P.;
- Pfister, M.
Publication type:
Article
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
Published in:
Human Genetics, 2003, v. 112, n. 4, p. 343, doi. 10.1007/s00439-002-0885-1
By:
- Miller, K.;
- Pabst, B.;
- Ritter, H.;
- Nürnberg, P.;
- Siebert, R.;
- Schmidtke, J.;
- Arslan-Kirchner, M.
Publication type:
Article
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
Published in:
Human Genetics, 2001, v. 108, n. 5, p. 394, doi. 10.1007/s004390100515
By:
- Chandler, D.;
- Tinschert, S.;
- Lohan, K.;
- Harrop, K.;
- Goldblatt, J.;
- Nagy, M.;
- Hummel, S.;
- Braun, H.-S.;
- Laing, N.;
- Nürnberg, P.
Publication type:
Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Published in:
2013
By:
- Cirak S;
- Foley AR;
- Herrmann R;
- Willer T;
- Yau S;
- Stevens E;
- Torelli S;
- Brodd L;
- Kamynina A;
- Vondracek P;
- Roper H;
- Longman C;
- Korinthenberg R;
- Marrosu G;
- Nürnberg P;
- Michele DE;
- Plagnol V;
- Hurles M;
- Moore SA;
- Sewry CA
Publication type:
journal article
Consequences of group fission for the patterns of relatedness among rhesus macaques.
Published in:
Molecular Ecology, 2006, v. 15, n. 12, p. 3825, doi. 10.1111/j.1365-294X.2006.03039.x
By:
- Widdig, A.;
- Nürnberg, P.;
- Bercovitch, F. B.;
- Trefilov, A.;
- Berard, J. B.;
- Kessler, M. J.;
- Schmidtke, J.;
- Streich, W. J.;
- Krawczak, M.
Publication type:
Article
Adequate use of allele frequencies in Hispanics---a problem elucidated in nephrotic syndrome.
Published in:
2010
By:
- Chernin G;
- Heeringa SF;
- Vega-Warner V;
- Schoeb DS;
- Nürnberg P;
- Hildebrandt F
Publication type:
Journal Article
Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0152984
By:
- Mobascher, A.;
- Diaz-Lacava, A.;
- Wagner, M.;
- Gallinat, J.;
- Wienker, T. F.;
- Drichel, D.;
- Becker, T.;
- Steffens, M.;
- Dahmen, N.;
- Gründer, G.;
- Thürauf, N.;
- Kiefer, F.;
- Kornhuber, J.;
- Toliat, M. R.;
- Thiele, H.;
- Nürnberg, P.;
- Steinlein, O.;
- Winterer, G.
Publication type:
Article
Whole blood gene expression profiling distinguishes systemic sclerosis‐overlap syndromes from other subsets.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 5, p. e236, doi. 10.1111/jdv.16198
By:
- Moinzadeh, P.;
- Frommolt, P.;
- Franitza, M.;
- Toliat, M. R.;
- Becker, K.;
- Nürnberg, P.;
- Nihtyanova, S. I.;
- Ahrazoglu, M.;
- Belz, D.;
- Hunzelmann, N.;
- Abraham, D.;
- Ong, V. H.;
- Mouthon, L.;
- Hesselstrand, R.;
- Denton, C. P.;
- Krieg, T.
Publication type:
Article
Phänotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhörigkeit.
Published in:
HNO, 2004, v. 52, n. 2, p. 132, doi. 10.1007/s00106-003-0912-0
By:
- Tóth, T.;
- Kupka, S.;
- Nürnberg, P.;
- Thiele, H.;
- Zenner, H.-P.;
- Sziklai, I.;
- Pfister, M.
Publication type:
Article
POPSIM: a general population simulation program.
Published in:
Bioinformatics, 1998, v. 14, n. 5, p. 458, doi. 10.1093/bioinformatics/14.5.458
By:
- Hampe, J;
- Wienker, W;
- Schreiber, S;
- Nürnberg, P
Publication type:
Article
Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma.
Published in:
Allergy, 2016, v. 71, n. 12, p. 1712, doi. 10.1111/all.12990
By:
- Nieuwenhuis, M. A.;
- Siedlinski, M.;
- Berge, M.;
- Granell, R.;
- Li, X.;
- Niens, M.;
- Vlies, P.;
- Altmüller, J.;
- Nürnberg, P.;
- Kerkhof, M.;
- Schayck, O. C.;
- Riemersma, R. A.;
- Molen, T.;
- Monchy, J. G.;
- Bossé, Y.;
- Sandford, A.;
- Bruijnzeel‐Koomen, C. A.;
- Gerth van Wijk, R.;
- Hacken, N. H.;
- Timens, W.
Publication type:
Article
A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Published in:
Allergy, 2005, v. 60, n. 2, p. 192, doi. 10.1111/j.1398-9995.2005.00646.x
By:
- Kurz, T.;
- Altmueller, J.;
- Strauch, K.;
- Rüschendorf, F.;
- Heinzmann, A.;
- Moffatt, M. F.;
- Cookson, W. O. C. M.;
- Inacio, F.;
- Nürnberg, P.;
- Stassen, H. H.;
- Deichmann, K. A.
Publication type:
Article
A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs.
Published in:
Molecular Psychiatry, 2006, v. 11, n. 2, p. 196, doi. 10.1038/sj.mp.4001761
By:
- Hebebrand, J.;
- Dempfle, A.;
- Saar, K.;
- Thiele, H.;
- Herpertz-Dahlmann, B.;
- Linder, M.;
- Kiefl, H.;
- Remschmidt, H.;
- Hemminger, U.;
- Warnke, A.;
- Knölker, U.;
- Heiser, P.;
- Friedel, S.;
- Hinney, A.;
- Schäfer, H.;
- Nürnberg, P.;
- Konrad, K.
Publication type:
Article
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Published in:
Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 12, p. 2239, doi. 10.1007/s00417-015-3174-0
By:
- Hedergott, A.;
- Volk, A.;
- Herkenrath, P.;
- Thiele, H.;
- Fricke, J.;
- Altmüller, J.;
- Nürnberg, P.;
- Kubisch, C.;
- Neugebauer, A.
Publication type:
Article
Functional implications of novel <italic>ADAM10</italic> mutations in reticulate acropigmentation of Kitamura.
Published in:
2017
By:
- Ralser, D. J.;
- Lestringant, G. G.;
- Du‐Thanh, A.;
- Kokordelis, P.;
- Fischer, J.;
- Basmanav, F.B.Ünalan;
- Wolf, S.;
- Thiele, H.;
- Altmüller, J.;
- Nürnberg, P.;
- Oji, V.;
- Fritz, G.;
- Frank, J.;
- Betz, R. C.
Publication type:
Letter to the Editor
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
Published in:
British Journal of Dermatology, 2017, v. 176, n. 4, p. 1068, doi. 10.1111/bjd.14860
By:
- Gruber, R.;
- Rainer, G.;
- Weiss, A.;
- Udvardi, A.;
- Thiele, H.;
- Eckl, K.M.;
- Schupart, R.;
- Nürnberg, P.;
- Zschocke, J.;
- Schmuth, M.;
- Volc ‐ Platzer, B.;
- Hennies, H.C.
Publication type:
Article
Trinucleotide repeat polymorphism at the PKLR locus.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 3, p. 523
By:
- Lenzner, C.;
- Jacobasch, G.;
- Reis, A.;
- Thiele, B.;
- Nürnberg, P.
Publication type:
Article
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
Published in:
Molecular Syndromology, 2010, v. 1, n. 1, p. 27, doi. 10.1159/000276763
By:
- Pawlik, B.;
- Mir, A.;
- Iqbal, H.;
- Li, Y.;
- Nürnberg, G.;
- Becker, C.;
- Qamar, R.;
- Nürnberg, P.;
- Wollnik, B.
Publication type:
Article
Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC).
Published in:
Clinical Genetics, 1991, v. 39, n. 2, p. 97, doi. 10.1111/j.1399-0004.1991.tb02994.x
By:
- Neitzel, H.;
- Digweed, M.;
- Nürnberg, P.;
- Pöpperl, A.;
- Schmidt, C. A.;
- Tinschert, S.;
- Sperling, K.
Publication type:
Article
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Published in:
Kidney International, 2006, v. 70, n. 6, p. 1008, doi. 10.1038/sj.ki.5001679
By:
- Hasselbacher, K.;
- Wiggins, R. C.;
- Matejas, V.;
- Hinkes, B. G.;
- Mucha, B.;
- Hoskins, B. E.;
- Ozaltin, F.;
- Nürnberg, G.;
- Becker, C.;
- Hangan, D.;
- Pohl, M.;
- Kuwertz-Bröking, E.;
- Griebel, M.;
- Schumacher, V.;
- Royer-Pokora, B.;
- Bakkaloglu, A.;
- Nürnberg, P.;
- Zenker, M.;
- Hildebrandt, F.
Publication type:
Article

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