Humangenetik Bochum - Forschung

| 2006 | 2007 | 2008 | 2009 | 2010 | 2011 | 2012 |

2006

Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox CP, Ruschoff J, Keller G, Dietmaier W, Rummele P, Friedrichs N, Mangold E, Buettner R, Schackert HK, Kienle P, Stemmler S, Moeslein G, Loeffler M. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. INT. J. CANCER 118:115-122, 2006

Schlitter AM, M Kurz, JP Larsen, D Woitalla, T Müller, JT Epplen, G Dekomien: Parkin gene variations in late-onset Parkinson’s disease: Comparison between Norwegian and German cohorts. ACTA NEUROL SCAND 113: 9-13, 2006

Börgel J, T Schulz, NK Bartels, JT Epplen, N Büchner, A Huesing, BM Sanner, LC Rump, A Mügge: Modifying effects of the R389G ßƒ¡-adrenoceptor polymorphism on resting heart rate an blood pressure in patients with obstructive sleep apnea. CLIN SCI 110: 117-123, 2006

Akkad DA , PJagiello, P Szyld, R Goedde, S Wieczorek, WL Gross, JT Epplen: The promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups. INT J IMMUNOGENET 33: 59-61, 2006

Müller A, HK Schackert, B Lange, J Rüschoff, L Füzesi, J Willert, P Burfeind, P Shah, H Becker, JT Epplen, S Stemmler: A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. AM J MED GENET 140A: 195–199, 2006

Sprengelmeyer R, U Schroeder, AW Young, JT Epplen: Disgust in pre-clinical Huntington's disease: A longitudinal study. NEUROPSYCHOLOGIA 44: 518-533, 2006

Lombard Z, AE Brune, EG Hoal, C Babb, PD van Helden, JT Epplen, L Bornman: HLA class II disease association in southern Africa. TISSUE ANTIGENS 67: 97-110, 2006

Kunstmann E, JT Epplen: Genetic counselling for the public? COMMUNITY GENET 9: 62-66, 2006

Gödde R, AD Akkad, L Arning, G Dekomien, J Herchenbach, E Kunstmann, M Meins, S Wieczorek, JT Epplen, S Hoffjan: Electrophoresis of DNA vs. chip analyses in human genetic diagnostics. ELECTROPHORESIS 27: 939-946, 2006

Felderbauer P, W Klein, K Bulut, N Ansorge, G Dekomien, JT Epplen, F Schmitz, WE Schmidt: Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis? SCAND J GASTROENTEROL 41: 343-348, 2006

Szyld P, P Jagiello, E Csernok, WL Gross, JT Epplen: On the Wegener granulomatosis associated region on chromosome 6p21.3. BMC MED GENET 7: 21, 2006

Zunker K, JT Epplen, M Schartl: Genomic stability in malignant melanoma of Xiphophorus. MELANOMA RES 16: 105-113, 2006

Wieczorek S, L Arning, JT Epplen: Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J HUM GENET 51: 363–367, 2006

Epplen JT: Pharmakogenetik. In: Humangenetik (Murken, ed.), Thieme-Verlag 118-127, 2006

Engelfried K, M Vorgerd, M Hagedorn, G Haas, J Gilles, JT Epplen, M Meins: Charcot-Marie-Tooth neuropathy type 2A: Novel mutations in the mitofusin 2 gene (MFN2). BMC MED GENET 7: 53, 2006

Glas J, HP Torok, L Tonenchi, B Muller-Myhsok, T Mussack, M Wetzke, W Klein, JT Epplen, T Griga, Schiemann U, Lohse P, Seiderer J, Schnitzler F, Brand S, Ochsenkuhn T, Folwaczny M, Folwaczny C: Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes. INFLAMM BOWEL DIS 12: 606-611, 2006

Schlitter AM, D Woitalla, T Mueller, JT Epplen, G Dekomien: The LRRK2 gene in Parkinson’s disease: mutation screening in patients from Germany. J NEUROL NEUROSURG PSYCHIATRY 77: 891-892, 2006

Kock D, K Sauer, C Hardt, JT Epplen: Patterns of sperm use in the scorpionfly Panorpa germanica, L. (Mecoptera: Panorpidae). BEHAV ECOL SOCIOBIOL 60: 528-535, 2006

Bach K, J Preyer, A Jensen, JT Epplen, E Kunstmann: Gynäkologische Betreuung von Patientinnen mit erblichem Darmkrebs (HNPCC) und deren Familien. ZENTRALBL GYNAKOL 128:207-212, 2006

Schwan A, JT Epplen: Predictive testing and genetic counselling. In: ENCYCLOPEDIC REFERENCE OF GENOMICS AND PROTEOMICS IN MOLECULAR MEDICINE, D Ganten, K Ruckpaul (eds) pp. 1453-1456, 2006

Epplen JT: Repeat expansion diseases: dynamic mutations cause (neurological) model disorders. In: ENCYCLOPEDIC REFERENCE OF GENOMICS AND PROTEOMICS IN MOLECULAR MEDICINE, D Ganten, K Ruckpaul (eds) Springer pp. 1627-1632, 2006

Wieczorek S, JT Epplen: Huntington’s disease. In: ENCYCLOPEDIC REFERENCE OF GENOMICS AND PROTEOMICS IN MOLECULAR MEDICINE, D Ganten, K Ruckpaul (eds) pp. 832-835, 2006

Kurz T, S Hoffjan, MG Hayes, D Schneider, R Nicolae, A Heinzmann, SP Jerkic, R Parry, NJ Cox, KA Deichmann, C Ober: Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci. J ALLERGY CLIN IMMUNOL 118: 396-402, 2006

Ober C, S Hoffjan: Asthma genetics 2006: the long and winding road to gene discovery. GENES IMMUN 7: 95-100, 2006

Engel C, J Forberg, E Holinski-Feder, C Pagenstecher, J Plaschke, M Kloor, C Poremba, CP Pox, J Ruschoff, G Keller, W Dietmaier, P Rummele, N Friedrichs, E Mangold, R Buettner, HK Schackert, P Kienle, S Stemmler, G Moeslein, M Loeffler; German HNPCC Consortium: Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. INT J CANCER 118: 115-122, 2006

Goecke T, K Schulmann, C Engel, E Holinski-Feder, C Pagenstecher, HK Schackert, M Kloor, E Kunstmann, H Vogelsang, G Keller, W Dietmaier, E Mangold, N Friedrichs, P Propping, S Kruger, J Gebert, W Schmiegel, J Rueschoff, M Loeffler, G Moeslein; German HNPCC Consortium: Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J CLIN ONCOL 24: 4285-4292, 2006

Kruger S, C Engel, A Bier, E Mangold, C Pagenstecher, MK Doeberitz, E Holinski-Feder, G Moeslein, G Keller, E Kunstmann, W Friedl, J Plaschke, J Ruschoff, HK Schackert; German HNPCC-Consortium: Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer. CANCER LETT 236:191-197, 2006

Metzger S, P Bauer, J Tomiuk, F Laccone, S Didonato, C Gellera, P Soliveri, HW Lange, H Weirich-Schwaiger, GK Wenning, B Melegh, V Havasi, L Baliko, S Wieczorek, L Arning, J Zaremba, A Sulek, D Hoffman-Zacharska, AN Basak, N Ersoy, J Zidovska, V Kebrdlova, M Pandolfo, P Ribai, L Kadasi, M Kvasnicova, BH Weber, F Kreuz, M Dose, M Stuhrmann, O Riess: The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. NEUROGENETICS 7: 27-30, 2006

Metzger S, P Bauer, J Tomiuk, F Laccone, S Didonato, C Gellera, C Mariotti, HW Lange, H Weirich-Schwaiger, GK Wenning, K Seppi, B Melegh, V Havasi, L Baliko, S Wieczorek, J Zaremba, D Hoffman-Zacharska, A Sulek, AN Basak, E Soydan, J Zidovska, V Kebrdlova, M Pandolfo, P Ribai, L Kadasi, M Kvasnicova, BH Weber, F Kreuz, M Dose, M Stuhrmann, O Riess: Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. HUM GENET 120: 285-292, 2006

Kunstmann E, K Bach, JT Epplen: Vernetzung von Humangenetik und Gastroenterologie/ Gynäkologie im ambulanten Bereich. MEDIZINISCHE GENETIK 18: 242-245, 2006

Epplen JT: Genetik und Schlaf. In: ENZYKLOPÄDIE DER SCHLAFMEDIZIN, J-H Peter, T Penzel, HÜ Peter (eds) Springer, pp. 452-456, 2006

Rommel O, RA Kley, G Dekomien, JT Epplen, M Vorgerd, M Hasenbring: Muscle pain in myophosphorylase deficiency (McArdle's disease): The role of gender, genotype, and pain-related coping. PAIN 124: 295-304, 2006

Hoffjan S, C Thiels, M Vorgerd, E Neuen-Jacob, JT Epplen, W Kress: Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. NEUROMUSCUL DISORD 16: 749-753, 2006

Kunstmann E, JT Epplen: Erbliches Endometriumkarzinom bei Patientinnen mit Lynch-Syndrom. GYNÄKOLOGIE GEBURTSHILFE 66: 734-738, 2006

Hoffjan S, Q Parwez, E Petrasch-Parwez, D Falkenstein, JT Epplen: Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples. INTERNATL J IMMUNOGENET 33: 401-409, 2006

Mai M, AD Akkad, S Wieczorek, C Saft, J Andrich, PH Kraus, JT Epplen, L Arning: No association between polymorphisms in the brain-derived neurotrophic factor gene and age at onset in Huntington disease. BMC MED GENET 7: 79, 2006

Hoffjan S, JT Epplen: Toll-like receptors and airway disease. DRUG DISCOVERY TODAY 3: 317-324, 2006

The GAMES Collaborative Group: Ban M, D Booth, R Heard, G Stewart, A Goris, K Vandenbroeck, B Dubois, M Laaksonen, J Ilonen, M Alizadeh, G Edan, MC Babron, D Brassat, M Clanet, I Cornu-Robex, B Fontaine, G Semana, R Goedde, J Epplen, A Weber, C Infante-Duarte, F Zipp, C Rajda, K Bencsik, L Vécsei, S Heggarty, C Graham, S Hawkins, M Liguori, P Momigliano-Richiardi, D Caputo, D Caputo, LME Grimaldi, M Leone, L Massacesi, C Milanese, M Salvetti, G Savettieri, M Trojano, B Bielecki, MP Mycko, K Selmaj, M Santos, P Maciel, C Pereira, A Silva, B Martins Silva, F Coraddu, MG Marrosu, E Åkesson, J Hillert, P Datta, A Oturai, H F Harbo, Anne Spurkland, R Goertsches, P Villoslada, M Eraksoy, A Hensiek, A Compston, E Setakis, J Gray, T Wai Yeo, S Sawcer: Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans. J NEUROIMMUNOL 179: 108–116, 2006

Lippmann T, SM Pasternack, B Kraczyk, S Dudek, G Dekomien: Mutation detection and exclusion of candidate genes in canine generalized progressive retinal atrophy. J NEG RES BIOMED 5: 19.

Rohde G, W Klein, U Arinir, M Hagedorn, N Duerig, TT Bauer, A Gillissen, G Schultze-Werninghaus, JT Epplen: Association of the ASP299GLY TLR4 polymorphism with COPD. RESPIRATORY MEDICINE 100: 892-896, 2006

[TOP]

2007

Bartels NK, J Borgel, S Wieczorek, N Buchner, C Hanefeld, D Bulut, A Mugge, LC Rump, BM Sanner, JT Epplen: Risk factors and myocardial infarction in patients with obstructive sleep apnea: impact of ß-2-Adrenoceptor polymorphisms. BMC MED 5: 1, 2007

Gambichler T, S Hoffjan, P Altmeyer, FG Bechara: A case of sporadic Bazex-Dupré-Christol syndrome presenting with scarring folliculitis of the scalp. BR J DERMATOL 156: 184-186, 2007

Lippmann T, A Jonkisz, T Dobosz, E Petrasch-Parwez, JT Epplen, G Dekomien: Haplotype-defined linkage region for gPRA in Schapendoes dogs. MOL VIS 13: 174-180, 2007

Stemmler S, E Petrasch-Parwez, Q Parwez, JT Epplen, S Hoffjan: Two common mutations within the filaggrin gene predispose for early onset atopic dermatitis. J INVESTIGAT DERMATOLOGY 127: 722–724, 2007

Schimming TB, Q Parwez, E Petrasch-Parwez, M Nothnagel, JT Epplen, S Hoffjan: Association of toll- interacting protein gene polymorphisms with atopic dermatitis. BMC DERMATOLOGY 7: 3, 2007

Vonend O, C Althenne, NJ Büchner, G Dekomien, C Maser-Gluth, SM Weiner, L Sellin, S Hofebauer, JT Epplen, LC Rump: AGerman family with glucocorticoid remediable aldosteronism. NEPHROL DIAL TRANSPLANT 22: 1123-1130, 2007

Schmoll T, FM Schurr, W Winkel, JT Epplen, T Lubjuhn: Polyandry in coal tits (Parus ater): Fitness consequences of putting eggs into multiple genetic baskets. J EVOL BIOL 20:1115-11125, 2007

Petrasch-Parwez E, HP Nguyen, M Lobbecke-Schumacher, HW Habbes, S Wieczorek, O Riess, KH Andres, R Dermietzel, S Von Horsten: Cellular and subcellular localization of Huntingtin aggregates in the brain of a rat transgenic for Huntington disease. J COMP NEUROL 501: 716-730, 2007

Schmoll T, FM Schurr, W Winkel, JT Epplen, T Lubjuhn: Polyandry in coal tits (Parus ater): Fitness consequences of putting eggs into multiple genetic baskets. J EVOL BIOL 20:1115-11125, 2007

Griga T, JT Epplen, W Klein: A polymorphism in the MIF gene is involved in the genetic predisposition of Crohn's disease and associated with cumulative steroid doses. HEPATO-GASTROENTEROL 54: 784-786, 2007

Hasselblatt M, S Föllinger, P Steinbach, A Schwan, W Paulus: Corticobasal degeneration presenting with progressive spasticity. NEUROLOGY 68: 791-792, 2007

Macaluso F, M Nothnagel, Q Parwez, E Petrasch-Parwez, FG Bechara, JT Epplen, S Hoffjan: Polymorphisms in Nacht-LRR (NLR) genes in atopic dermatitis. EXP DERMATOL 16: 692-698, 2007

Hoffjan S, S Stemmler: On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. BR J DERMATOL 157: 441-449, 2007

Blaszczyk WM, C. Distler, G Dekomien, L Arning, KP Hoffmann, JT Epplen: Tyrosinase exon 4 deletion in albino ferrets (Mustela putorius furo). ANIMAL GENET 38: 421-423, 2007

Warnecke T, T Duning, A Schwan, H Lohmann, JT Epplen, P Young: A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. NEUROLOGY 69: 368-375, 2007-07-26

Arning L, C Saft, S Wieczorek, J Andrich, PH Kraus, JT Epplen: NR2A and NR2B receptor gene
variations modify age at onset in Huntington disease in a sex-specific manner. HUM GENET 122: 175-182, 2007

Jenne DE, PM Aries, S Einwachter, AD Akkad, S Wieczorek, P Lamprecht, WL Gross: The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis. ANN RHEUM DIS 66: 1266-1277, 2007

Glas J, J Seiderer, M Wetzke, A Konrad, H-P Török, S Schmechel, L Tonenchi, C Grassl, J Dambacher, S Pfennig, K Maier, T Griga, W Klein, JT Epplen, U Schiemann, C Folwaczny, P Lohse, B Göke, T Ochsenkühn, B Müller-Myhsok, M Folwaczny, T Mussack, S Brand: rs1004819 is the main disease-associated IL23R variant in German Crohn’s disease patients: Combined analysis of IL23R, CARD15, and OCTN1/2 variants. PLOS ONE 2: e819, 2007

Janko K, J Bohlen, D Lamatsch, M Flajshans, JT Epplen, P Rab, P Kotlik, Y Slechtova: The gynogenetic reproduction of diploid and triploid hybrid spined loaches (Cobitis: Teleostei), and their ability to establish successful clonal lineages-on the evolution of polyploidy in asexual vertebrates. GENETICA 131: 185-194, 2007

Akkad AD, JT Epplen, R Gold: ’Syndrom’ Multiple Sklerose: komplexe genetische Beiträge zur offenen Pathogenese mit vielgestaltiger Klinik. MED GENET 19: 342-345, 2007

Wieczorek S, JT Epplen: Trinucleotide repeat expansions: mechanisms and disease associations; ENCYCLOPEDIA OF LIFE SCIENCES, John Wiley & Sons, Chichester (2007)

Enquist L, G Dekomien, JT Epplen, KP Sauer: Sperm transfer and paternity in the scorpionfly Panorpa cognata: large variance in traits favoured by postcopulatory episodes of sexual selection. EVOL ECOLOGY 21: 801-816, 2007

Felderbauer P, E Karakas, V Fendrich, K Bulut, I Werner, G Dekomien, W Klein, D Bartsch, WE Schmidt: Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene. EXP CLIN ENDOCRINOL DIABETES 115: 527-529, 2007

Kurz MW, AM Schlitter, Y Klenk, T Mueller, JP Larsen, D Aarsland, G
Dekomien: FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study. J GERIATR PSYCHIATRY NEUROL 20: 89-92, 2007

Lamprecht P, K Holl-Ulrich, S Wieczorek: Venous thrombembolism in Wegener`s granulomatosis. J RHEUMATOL 34: 2323-2325, 2007

Aretz S, D Stienen, N Friedrichs, S Stemmler, S Uhlhaas, N Rahner, P Propping, W Friedl: Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). HUM MUTAT 28: 985-992, 2007

Lampert K, DK Lamatsch, P Fischer, JT Epplen, I Nanda, M Schmid, M Schartl: Automictic reproduction in interspecific hybrids of poeciliid fish. CURR BIOL 17: 1948-1953, 2007

Glas J, HP Torok, L Tonenchi, M Wetzke, V Beynon, MY Teshome, S Cotofana, U Schiemann, T Griga, W Klein, JT Epplen, C Folwaczny, M Folwaczny, T Mussack, EH Weiss: The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease. INT IMMUNOL 19: 621-626, 2007

Akkad AD, L Arning, SM Ibrahim, JT Epplen: Sex specifically associated promoter polymorphism in Multiple Sclerosis affects interleukin 4 expression levels. GENES IMMUNITY 8: 703–706, 2007

Glas J, A Konrad, S Schmechel, J Dambacher, J Seiderer, F Schroff, M Wetzke, D Roeske, H-P Török, L Tonenchi, S Pfennig, D Haller, T Griga, W Klein, JT Epplen, C Folwaczny, P Lohse, B Göke, T Ochsenkühn, T Mussack, M Folwaczny, B Müller-Myhsok, S Brand: The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. AM J GASTROENTEROL 102: 1–10, 2007

Wieczorek S, L Arning, ER Gizewski, I Alheite, D Timmann: Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. Mov Disord. 22(14):2135-6, 2007

Dev A, Nayernia K, Meins M, Adham I, Lacone F, Engel W. Mice deficient for RNA-binding protein brunol1 show reduction of spermatogenesis but are fertile. Mol Reprod Dev. 74(11):1456-64, 2007

Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M. Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. Neuropediatrics. 38(3):143-7, 2007

Avila De Salman S, AL Taratuto, G Dekomien, R Carrero-Valenzuela: Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. ACTA MYOL 26: 115-118, 2007

[TOP]

2008

Glas J, Konrad A, Schmechel S, Dambacher J, Seiderer J, Schroff F, Wetzke M, Roeske D, Török HP, Tonenchi L, Pfennig S, Haller D, Griga T, Klein W, Epplen JT, Folwaczny C, Lohse P, Göke B, Ochsenkühn T, Mussack T, Folwaczny M, Müller-Myhsok B, Brand S. The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. Am J Gastroenterol. 103(3): 682-91, 2008

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 82(6): 1306-15, 2008

Heckmann M, Holle JU, Arning L, Knaup S, Hellmich B, Nothnagel M, Jagiello P, Gross WL, Epplen JT, Wieczorek S. The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping. Ann Rheum Dis. 67(7): 972-9, 2008

Wieczorek S, Hellmich B, Gross WL, Epplen JT. Associations of Churg-Strauss syndrome with the HLA-DRB1 locus, and relationship to the genetics of antineutrophil cytoplasmic antibody-associated vasculitides: comment on the article by Vaglio et al. Arthritis Rheum. 58(1): 329-30, 2008

Wieczorek S, Hellmich B, Arning L, Moosig F, Lamprecht P, Gross WL, Epplen JT. Functionally relevant variations of the interleukin-10 gene associated with antineutrophil cytoplasmic antibody-negative Churg-Strauss syndrome, but not with Wegener's granulomatosis. Arthritis Rheum. 58(6): 1839-48, 2008

Börgel J, Bulut D, Hanefeld C, Neubauer H, Mügge A, Epplen JT, Holland-Letz T, Spiecker M. The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile. BMC Cardiovasc Disord. 8: 41, 2008

Akkad DA, Kruse N, Arning L, Gold R, Epplen JT. Genomic NGFB variation and multiple sclerosis in a case control study. BMC Med Genet. 9: 107, 2008

Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 9: 71, 2008

Asher M, Lippmann T, Epplen JT, Kraus C, Trillmich F, Sachser N. Large males dominate: ecology, social organization, and mating system of wild cavies, the ancestors of the guinea pig. Behav Ecol Sociobiol. 62(9): 1509-1521, 2008

Frank B, Burwinkel B, Bermejo JL, Försti A, Hemminki K, Houlston R, Mangold E, Rahner N, Friedl W, Friedrichs N, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Morak M, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P, German HNPCC Consortium. Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families. Cancer Lett. 271(1): 153-7, 2008

Assmann G, Wieczorek S, Wibisono D, Roemer K, Arning L, Voswinkel J. The p53 G72C and MDM2 T309G single nucleotide polymorphisms in patients with Wegener's granulomatosis. Clin Exp Rheumatol. 26(3 Suppl 49): S72-5, 2008

Adrian O, Dekomien G, Epplen JT, Sachser N. Body weight and rearing conditions of males, female choice and paternities in a small mammal, Cavia aperea. ETHOLOGY. 114(9): 897-906, 2008

Bär KJ, Boettger MK, Andrich J, Epplen JT, Fischer F, Cordes J, Koschke M, Agelink MW. Cardiovagal modulation upon postural change is altered in Huntington's disease. Eur J Neurol. 15(8): 869-71, 2008

Roser P, Stadelmann AM, Arning L, Gallinat J, Epplen JT, Juckel G. Association between a cannabinoid receptor gene (CNR1) polymorphism and the auditory event-related P300 potential. Eur Neuropsychopharmacol. 18: S277-S278, 2008

Diegelmann J, Glas J, Seiderer J, Pasciuto G, Tillack C, Pfennig S, Jurgens M, Konrad A, Wetzke M, Torok HP, Griga T, Klein W, Epplen JT, Schiemann U, Mussack T, Lohse P, Goke B, Ochsenkuhn T, Folwaczny M, Muller-Myhsok B, Brand S. The CARD15 variants rs2066843 and rs2076756 are new independent Crohn's disease susceptibility genes associated with severe penetrating disease phenotype and frequent need for surgery. Gastroenterology. 134(4): A458-A458, 2008

Seiderer J, Glas J, Diegelmann J, Pasciuto G, Tillack C, Pfennig S, Roeske D, Jurgens M, Schmechel S, Konrad A, Wetzke M, Torok HP, Griga T, Klein W, Epplen JT, Schiemann U, Mussack T, Lohse P, Goke B, Ochsenkuhn T, Folwaczny M, Muller-Myhsok B, Brand S. The first two Crohn's disease susceptibility loci with a high degree of epistasis: PTGER4-expression-modulating polymorphisms in the 5p13.1 region enhance ATG16LI-associated susceptibility to Crohn's disease. Gastroenterology. 134(4): A456-A456, 2008

Seiderer J, Glas J, Diegelmann J, Fischer D, Seitz B, Tillack C, Pfennig S, Konrad A, Wetzke M, Griga T, Klein W, Epplen JT, Schiemann U, Mussack T, Lohse P, Goke B, Ochsenkuehn T, Folwaczny M, Muller-Myhsok B, Brand S. The role of pregnane X receptor (PXR/NRli2) gene variants in inflammatory bowel disease. Gastroenterology. 134(4): A457-A457, 2008

Adrian O, Kaiser S, Sachser N, Jandewerth P, Löttker P, Epplen JT, Hennessy MB. Female influences on pair formation, reproduction and male stress responses in a monogamous cavy (Galea monasteriensis). Horm Behav. 53(3): 403-12, 2008

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 17(14): 2172-80, 2008

Quack I, Vonend O, Sellin L, Stegbauer J, Dekomien G, Rump LC. A tale of two patients with Mendelian hypertension. Hypertension. 51(3): 609-14, 2008

Roser P, Stadelmann AM, Arning L, Gallinat J, Epplen JT, Juckel G. Acute effects of delta 9-tetrahydrocannabinol on the auditory event-related mismatch negativity depending on genetic variations in the dysbindin, neuregulin, and G72 gene. Int J Neuropsychopharmacol. 11: 256-256, 2008

Kunstmann E, Eickelmann A, Sudhoff H, Pearson M, Brors D. Sudden hearing loss due to fibromuscular dysplasia. J Laryngol Otol. 17:1-4, 2008

Arning L, Monté D, Hansen W, Wieczorek S, Jagiello P, Akkad DA, Andrich J, Kraus PH, Saft C, Epplen JT. ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease. J Mol Med. 86(4): 485-90, 2008

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). J Neurol. 255(4): 495-501, 2008

Brors D, Eickelmann AK, Gäckler A, Sudhoff H, Lautermann J, Dazert S, Kunstmann E. Clinical characterization of patients with idiopathic sudden sensorineural hearing loss. Laryngorhinootologie. 87(6): 400-5, 2008

Andrich J, Arning L, Wieczorek S, Kraus PH, Gold R, Saft C. Huntington's disease as caused by 34 CAG repeats. Mov Disord. 23(6): 879-81, 2008

Münch C, Epplen JT, Meins M, Meyer R, Weber JR, Meyer T. Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication. Muscle Nerve. 37(2): 256-8, 2008

Arning L, Schöls L, Cin H, Souquet M, Epplen JT, Timmann D. Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics. 9(4): 295-9, 2008

Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V. Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? Neuromuscul Disord. 18(12): 934-41, 2008

Wieczorek S, Bergström J, Sääf M, Kötting J, Iwarsson E. Expanded HSAN4 phenotype associated with two novel mutations in NTRK1. Neuromuscul Disord. 18(8): 681-4, 2008

Yu X, Koczan D, Sulonen AM, Akkad DA, Kroner A, Comabella M, Costa G, Corongiu D, Goertsches R, Camina-Tato M, Thiesen HJ, Nyland HI, Mørk SJ, Montalban X, Rieckmann P, Marrosu MG, Myhr KM, Epplen JT, Saarela J, Ibrahim SM. mtDNA nt13708A variant increases the risk of multiple sclerosis. PLoS ONE. 3(2): e1530, 2008

Parwez Q, Stemmler S, Epplen JT, Hoffjan S. Variation in genes encoding eosinophil granule proteins in atopic dermatitis patients from Germany. J Negat Results Biomed. 7: 9*, 2008

Schulmann K, Stemmler S. Hereditäres Kolonkarzinom - Klinik und molekulargenetische Diagnostik. Gastroenterologe 3: 112-118, 2008

[TOP]

2009

Beygo Y, Q Parwez, E Petrasch-Parwez, JT Epplen, S Hoffjan: No evidence of an association between polymorphisms in the IRAK-M gene and atopic dermatitis in a German cohort. MOL CELL PROBES 23: 16-19, 2009

Schmoll T, FM Schurr, W Winkel, JT Epplen, T Lubjuhn: Lifespan, lifetime reproductive performance and paternity loss of within-pair and extra-pair offspring in the coal tit Periparus ater. PROC ROY SOC LOND B 276: 337-345, 2009

Arinir U, S Hoffjan, H Knoop, G Schultze-Werninghaus, JT Epplen, G Rohde: Zur Genetik der chronisch obstruktiven Lungenerkrankung. PNEUMOLOGIE 63: 41-48, 2009

Bernhard C, P Kraus, JT Epplen, EM Kunstmann: Decreasing uptake of predictive testing for Huntington’s disease in a German centre: 12 years’ experience (1993-2004) EUR J HUM GENET 17: 295-300, 2009

Glas J, J Seiderer, G Pasciuto, C Tillack, J Diegelmann, S Pfennig, A Konrad, Shmechel, M Wetzke, HP Török, J Stallhofer, M Jurgens, T Griga, W Klein, JT Epplen, U Schiemann, T Mussack, P Lohse, B Göke, T Ochsenkühn, M Folwaczny, B Müller-Myhsok, S Brand: rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn’ s disease in the German population. AM J GASTROENTEROL 104: 665-672, 2009

Akkad DA, S Hoffjan, R Gold, JT Epplen: Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients. J AUTOIMMUN 32: 110-115, 2009

Wieczorek S, S Knaup, WL Gross, JT Epplen: Genetic variability of RXRB, PPARA and PPARG in Wegener’s granulomatosis. PPAR RESEARCH 786781, 2009

Glas J, J Stallhofer, S Ripke, M Wetzke, S Pfennig, W Klein, JT Epplen, T Griga, U Schiemann, M Lacher, S Koletzko, M Folwaczny, P Lohse, B Göke, T Ochsenkühn, B Müller-Myhsok, S Brand: Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease. AM J GASTROENTEROL 104:1737-1744, 2009

Zschüntzsch J, P Dibaj, S Pilgram, J Kötting, WM Gerding, C Neusch: Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0). J NEUROL SCI. 281: 113-115, 2009

Taherzadeh-Fard E, C Saft, J Andrich, S Wieczorek, L Arning. PGC-1alpha as modifier of onset age in Huntington disease. MOL NEURODEGENER 4:10, 2009

Hoffjan, S, Q Parwez, E Petrasch-Parwez, S Stemmler: Variation in the BDNF and NGFB genes in German atopic dermatitis patients. MOL CELL PROBES 23: 35-38, 2009

Kaufmann A, S Vogt, S Uhlhaas, D Stienen, I Kurth, H Hameister, E Mangold, J Kötting, E Kaminsky, P Propping, W Friedl, S Aretz: Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J MOL DIAGN 11: 131-139, 2009

Lamprecht P, S Wieczorek, JT Epplen, P Ambrosch, CGM Kallenberg: Granuloma formation in ANCA- associated vasculitides. APMIS S117: 32-36, 2009

Baumeister SK, S Todorovic, V Milic-Rasic, G Dekomien, H Lochmüller, MC Walter: Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. NEUROMUSC DISORD 9: 167-171, 2009

Wildförster V, G Dekomien: Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay. MOL CELL PROBES 23: 55-59, 2009

Hoffjan S, J Beygo, DA Akkad, Q Parwez, E Petrasch-Parwez, JT Epplen: Analysis of variation in the IL7RA and IL2RA genes in atopic dermatitis. J DERMATOL SCI 55: 138-140, 2009

Stemmler S, M Nothnagel, Q Parwez, E Petrasch-Parwez, JT Epplen, S Hoffjan: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. INT J IMMUNOGENET 36: 217-222, 2009

Epplen A, JT Epplen: Diabetes und Genetik – komplexe Beziehungsgeflechte zwischen Umwelt und Erbe. GYN 14: 296-302, 2009

Yu X, S Wieczorek, A Franke, H Yin, M Pierer, C Sina, TH Karlsen, KM Boberg, A Bergquist, M Kunz, T Witte, WL Gross, JT Epplen, ME Alarcón-Riquelme, S Schreiber, SM Ibrahim: Association of UCP2 - 866 G/A polymorphism with chronic inflammatory diseases. GENES IMMUN 10: 601-605, 2009

Wieczorek S, S Hoffjan, A Chan, L Rey, L Harper, H Fricke, JU Holle, WL Gross, JT Epplen, P Lamprecht: Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients. GENES IMMUN 10: 591- 595, 2009

Kurz MW, G Dekomien, OB Nilsen, JP Larsen, D Aarsland, G Alves: APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study. J GERIATR PSYCHIATRY NEUROL 22: 166-170, 2009

Bauer R, J Hudson, HD Müller, C Sommer, G Dekomien, J Bourke, D Routledge, K Bushby, J Klepper, V Straub: Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? EUR J HUM GENET 17: 1148-1153, 2009

Gerding WM, J Koetting, JT Epplen, C Neusch: Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. NEUROMUSCUL DISORD 19:701-703, 2009

Taherzadeh-Fard E, C Saft, J Andrich, S Wieczorek, L Arning: PGC-1alpha as modifier of onset age in Huntington disease. MOL NEURODEGENR. 4: 10, 2009

Anheim M, B Monga, M Fleury, P Charles, C Barbot, M Salih, JP Delaunoy, M Fritsch, L Arning, M Synofzik, L Schöls, J Sequeiros, C Goizet, C Marelli, I Le Ber, J Koht, J Gazulla, J De Bleecker, M Mukhtar, N Drouot, L Ali-Pacha, T Benhassine, M Chbicheb, A M’Zahem, A Hamri, B Chabrol, J Pouget, R Murphy, M Watanabe, P Coutinho, M Tazir, A Durr, A Brice, C Tranchant, M Koenig M: Ataxia with oculomotor apraxia type 2: clinical, biological and genotype / phenotype correlation study of a cohort of 90 patients. BRAIN. 2009 Oct;132(Pt 10):2688-98. Epub 2009 Aug 20.

Salloch H, A Reinacher-Schick, K Schulmann, C Pox, J Willert, A Tannapfel, S Heringlake, TO Goecke, S Aretz, S Stemmler, W Schmiegel: Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. INT J COLORECTAL DIS. 2009

Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J INHERIT METAB DIS. 2009 Nov 4.

[TOP]

2010

Arning L, Holle JU, Harper L, Millar DS, Gross WL, Epplen JT, Wieczorek S:Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis? Ann Rheum Dis., 2010

Campa D, Pardini B, Naccarati A, Vodickova L, Novotny J, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Kötting J, Betz B, Kloor M, Engel C, Büttner R, Propping P, Försti A, Hemminki K, Barale R, Vodicka P, Canzian F: Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study. BMC Gastroenterol 10: 112, 2010

Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Aires Pereira S, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain Dev., 2010

Premi S, Srivastava J, Epplen JT, Ali S: AZFc region of the Y chromosome shows singular structural organization. Chromosome Res. 18(4): 419-30, 2010

Holle JU, Wieczorek S, Gross WL: Genetic association studies in ANCA-associated vasculitides: what we have learnt so far and what needs to be done in the future. Clin Exp Rheumatol. 28: 5-7, 2010

Wieczorek S, Holle JU, Epplen JT: Recent progress in the genetics of Wegener's granulomatosis and Churg-Strauss syndrome. Curr Opin Rheumatol. 22(1): 8-14, 2010

Gäckler A, Eickelmann AK, Brors D, Dazert S, Epplen JT, Kunstmann E: Positive family history of idiopathic sudden sensorineural hearing loss. Eur Arch Otorhinolaryngol. 267(12): 1843-8, 2010

Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L: Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet. 18(9), 2010

Sequeiros J, Martindale J, Seneca S, European Molecular Quality Genetics Network: EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet. 18(11): 1173-6, 2010

Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P: C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. Eur J Neurol. 17(6): e41-2, 2010

Steinemann D, Arning L, Praulich I, Stuhrmann M, Hasle H, Stary J, Schlegelberger B, Niemeyer CM, Flotho C: Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica. 95(2): 320-3, 2010

Willenberg HS, Späth M, Maser-Gluth C, Engers R, Anlauf M, Dekomien G, Schott M, Schinner S, Cupisti K, Scherbaum WA: Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism. Hypertens Res. 33(5): 467-72, 2010

Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W: Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 25(1): 97-107, 2010

Harazin M, Parwez Q, Petrasch-Parwez E, Epplen JT, Arinir U, Hoffjan S, Stemmler S: Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease. J Dermatol. 37(8): 740-2, 2010

Arning L, Haghikia A, Taherzadeh-Fard E, Saft C, Andrich J, Pula B, Höxtermann S, Wieczorek S, Akkad DA, Perrech M, Gold R, Epplen JT, Chan A: Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease. J Mol Med. 88(4): 431-6, 2010

Wieczorek S, Holle JU, Müller S, Fricke H, Gross WL, Epplen JT: A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. J Mol Med. 88(4): 413-21, 2010

Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schröder R: Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation. J Neurol. 257(4): 658-60, 2010

Wengert O, Meisel A, Kress W, Dekomien G, Angstwurm K, Heppner FL, Goebel HH, Stenzel W: Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. J Neurol., 2010

Delnooz CC, Lefeber DJ, Langemeijer SM, Hoffjan S, Dekomien G, Zwarts MJ, Van Engelen BG, Wevers RA, Schelhaas HJ, van de Warrenburg BP: New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. J Neurol Neurosurg Psychiatry. 81(9): 968-72, 2010

Assmann G, Koenig J, Pfreundschuh M, Epplen JT, Kekow J, Roemer K, Wieczorek S: Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study. J Rheumatol. 37(5): 900-4, 2010

Hoffjan S, Akkad DA: The genetics of multiple sclerosis: an update 2010. Mol Cell Probes. 24(5): 237-43, 2010

Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G: Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes. 24(6): 357-63, 2010

Schneider-Gold C, Kötting J, Epplen JT, Gold R, Gerding WM: Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero. Muscle Nerve. 41(4): 550-4, 2010

Taherzadeh-Fard E, Saft C, Wieczorek S, Epplen JT, Arning L: Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1. Neurogenetics. 11(4): 435-9, 2010

Beste C, Schneider D, Epplen JT, Arning L: The functional BDNF Val66Met polymorphism affects functions of pre-attentive visual sensory memory processes. Neuropharmacology, 2010

Glas J, Seiderer J, Nagy M, Fries C, Beigel F, Weidinger M, Pfennig S, Klein W, Epplen JT, Lohse P, Folwaczny M, Göke B, Ochsenkühn T, Diegelmann J, Müller-Myhsok B, Roeske D, Brand S: Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. PLoS ONE. 5(4): e10373, 2010

Stadelmann AM, Roser P, Arning L, Gallinat J, Epplen JT, Juckel G: Acute effects of delta9-tetrahydrocannabinol on the auditory evoked mismatch negativity are modulated by the NRG1 gene. Pharmacopsychiatry 43(5): 194-5, 2010

Holle JU, Wieczorek S, Gross WL: The future of ANCA-associated vasculitis. Rheum Dis Clin North Am. 36(3): 609-21, 2010

Wieczorek S, Holle JU, Bremer JP, Wibisono D, Moosig F, Fricke H, Assmann G, Harper L, Arning L, Gross WL, Epplen JT: Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome. Rheumatology (Oxford). 49(5): 907-14, 2010

[TOP]

2011

Arning L, Holle JU, Harper L, Millar DS, Gross WL, Epplen JT, Wieczorek S. Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis? Ann Rheum Dis. 70(4): 707-8, 2011

Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain Dev. 33(1): 69-76, 2011

Holle JU, Epplen JT, Gross WL, Wieczorek S. Delineating WG, MPA and CSS: genetic risk factors associated with a positive ANCA status. Clin Exp Immunol. 164 Suppl.: 76-76, 2011

Hoffjan S, Waldmüller S, Blankenfeldt W, Kötting J, Gehle P, Binner P, Epplen JT, Scheffold T. Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. Eur J Hum Genet. 19(5): 520-4, 2011

Hasenbring MI, Kreddig N, Deges G, Epplen JT, Kunstmann E, Stemmler S, Schulmann K, Willert J, Schmiegel W. Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress. Genet Test Mol Biomarkers. 15(4): 219-25, 2011

Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat. 32(4): 407-14, 2011

Gerding WM, Schreiber S, Dekomien G, Epplen JT. Tracing the origin of 'blue Weimaraner' dogs by molecular genetics. J Anim Breed Genet. 128(2): 153-60, 2011

Kropatsch R, Streitberger K, Schulte-Middelmann T, Dekomien G, Epplen JT. On ancestors of dog breeds with focus on Weimaraner hunting dogs. J Anim Breed Genet. 128(1): 64-72, 2011

Schmidt S, Wattjes MP, Gerding WM, van der Knaap M. Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. J Neurol. 258(5): 938-40, 2011

Tschampa HJ, Greschus S, Vinahl M, Urbach H, Mueller MM, Gerding WM. MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. J Neurol. 258(5): 935-7, 2011

Taherzadeh-Fard E, Saft C, Akkad DA, Wieczorek S, Haghikia A, Chan A, Epplen JT, Arning L. PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease. Mol Neurodegener. 6(1): 32, 2011

Beste C, Schneider D, Epplen JT, Arning L. The functional BDNF Val66Met polymorphism affects functions of pre-attentive visual sensory memory processes. Neuropharmacology. 60(2-3): 467-71, 2011

Stadelmann AM, Juckel G, Arning L, Gallinat J, Epplen JT, Roser P. Association between a cannabinoid receptor gene (CNR1) polymorphism and cannabinoid-induced alterations of the auditory event-related P300 potential. Neurosci Lett. 496(1): 60-4, 2011

Ellrichmann G, Petrasch-Parwez E, Lee DH, Reick C, Arning L, Saft C, Gold R, Linker RA. Efficacy of fumaric acid esters in the R6/2 and YAC128 models of Huntington's disease. PLoS ONE. 6(1): e16172, 2011

Holle JU, Wieczorek S, Epplen JT, Gross WL. The genetics of vasculitides. Z Rheumatol. 70(3): 198, 200-4, 2011

Assmann G, Pfoehler C, Simon P, Pfreundschuh M, Tilgen W, Wieczorek S. Genetic variations in the genes encoding receptor activator nuclear factor κ B (RANK), receptor activator nuclear factor κ B ligand (RANKL) and osteoprotegerin (OPG) in patients with psoriasis and psoriatic arthritis: A case-control study. J Dermatol 38:519-23, 2011

Ocklenburg S, Arning L, Hahn C, Gerding WM, Epplen JT, Güntürkün O, Beste C. Variation in the NMDA receptor 2B subunit gene GRIN2B is associated with differential language lateralization. Behav Brain Res. 225(1): 284-9, 2011

Lamatsch DK, Trifonov V, Schories S, Epplen JT, Schmid M, Schartl M. Isolation of a cancer-associated microchromosome in the sperm-dependent parthenogen Poecilia formosa. Cytogenet Genome Res. 135(2): 135-42, 2011

Arslan-Kirchner M, Epplen JT, Faivre L, Jondeau G, Schmidtke J, De Paepe A, Loeys B. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet. 19(10), 2011

Gerding WM, Schreiber S, Schulte-Middelmann T, de Castro Marques A, Atorf J, Akkad DA, Dekomien G, Kremers J, Dermietzel R, Gal A, Rülicke T, Ibrahim S, Epplen JT, Petrasch-Parwez E. Ccdc66 null mutation causes retinal degeneration and dysfunction. Hum Mol Genet. 20(18): 3620-31, 2011

Hellwig K, Schimrigk S, Chan A, Epplen JT, Gold R. A newborn with Pierre Robin sequence after preconceptional mitoxantrone exposure of a female with multiple sclerosis. J Neurol Sci. 307(1-2): 164-5, 2011

Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, REGISTRY Investigators of the European Huntington's Disease Network , Arning L, Barth K, Bascuñana Garde M, Bos R, Ecker D, Handley O, Heinonen N, Held C, Laurà M, Martínez Descals A, Mestre T, Monza D, Naji J, Orth M, Padieu H, Pro Koivisto S, Rialland A, Sasinková P, Trigo Cubillo P, van Walsem M, Witjes-Ané MN, Zielonka D, Bonelli R, Herranhof B, Hödl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinge K, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Ribaï P, Verellen-Dumoulin C, Klempí? J, Kucharik M, Roth J, Hasholt L, Hjermind L, Jakobsen O, Nielsen J, Nørremølle A, Sørensen S, Stokholm J, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Lange H, Löhle M, Storch A, Wolz A, Wolz M, Lambeck J, Zucker B, Münchau A, Stubbe L, Zittel S, Heinicke W, Longinus B, Peinemann A, Städtler M, Weindl A, Bohlen S, Lange H, Reilmann R, Beister A, Dose M, Hammer K, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Wiedemann A, Beister A, Dose M, Hammer K, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Wiedemann A, Ecker D, Eschenbach C, Landwehrmeyer B, Lezius F, Orth M, Trautmann S, Cormio C, Difruscolo O, de Tommaso M, Sciruicchio V, Serpino C, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, Di Maria E, Bandettini di Poggio Giovanna Ferrandes M, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Gellera C, Monza D, Tomasello C, Nanetti L, Luigi D, De Michele G, Rinaldi C, Russo C, Salvatore E, Tucci T, Squitieri F, Martino T, Orobello S, Alberti S, De Gregorio F, Codella V, De Nicola N, Maglione V, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, van Walsem M, Bjørgo K, Fannemel M, Gørvell P, Retterstøl L, Bjørnevoll I, Botne Sando S, Slawek J, Soltan W, Sitek E, Boczarska-Jedynak M, Jasinska-Myga B, Opala G, Szczudlik A, Rudzi?ska M, Wójcik M, Banaszkiewicz K, Krawczyk M, Zielonka D, Marcinkowski J, Ciesielska A, Sempo?owicz J, Bryl A, Klimberg A, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Witkowski G, Ryglewicz D, Antczak J, Rakowicz M, Jachinska K, Zdzienicka E, Richter P, Zaremba J, Coelho M, Ferreira J, Mestre T, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Barrero F, Morales B, López-Sendón Moreno J, Cubo E, Mariscal N, Sánchez J, García R, Villanueva C, Pin Quiroga P, Bascuñana M, Trigo Cubillo P, Fatàas M, Luis López Moreno J, García Ribas G, Schwarz C, de Yébenes JG, José Saiz Artiga M, Martínez-Descals A, García Ruíz P, Sánchez V, Fortuna Alcaraz L, Fuensanta Noguera Perea M, Martirio Antequera Torres M, Vivancos Moreau L, Rojo Sebastian A, Aguilar Barbera M, Badenes Guia D, Casas Hernanz L, Tome Carruesco G, Suarez San Martin E, López Catena J, Bas J, Calopa M, Busquets N, Navas Arques P, Gorospe A, Legarda I, José Torres Rodríguez M, Vives B, Carrillo F, Mir P, José Lama Suarez M, Loutfi G, Stattin EL, Westman L, Wikström B, Pålhagen S, Björnsson E, Burgunder JM, Romero I, Schüpbach M, Weber Zaugg S, van Hout M, van Vugt J, Marit de Weert A, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Bos R, Dumas E, Jurgens C, van den Bogaard SA, Roos R, Witjes-Ané MN, Kremer B, Verstappen CC, de Souza J, Rickards H, Wright J, Barker R, Fisher K, Goyder Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison-Rose L, Handley O, Hunt S, Naji J, Price K, Rosser A, Dunnett S, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Zeman A, Lambord N, Rankin J, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Patton M, Patterson M, Bourne C, Clayton C, Dipple H, Clapton J, Grant J, Gross D, Hallam C, Middleton J, Murch A, Patino D, Andrews T, Bruno S, Chu E, Doherty K, Lahiri N, Novak M, Patel A, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Craufurd D, Fullam R, Howard L, Huson S, Partington-Jones L, Verstraelen N, Snowden J, Sollom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Tidswell K, Quarrell O. NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS Curr. 3: RRN1247, 2011

Lill CM, Schjeide BM, Akkad DA, Blaschke P, Winkelmann A, Gerdes LA, Hoffjan S, Luessi F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Bertram L, Zipp F. Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample. Neurogenetics, 2011

Malhotra S, Morcillo-Suárez C, Brassat D, Goertsches R, Lechner-Scott J, Urcelay E, Fernández O, Drulovic J, García-Merino A, Martinelli Boneschi F, Chan A, Vandenbroeck K, Navarro A, Bustamante MF, Río J, Akkad DA, Giacalone G, Sánchez AJ, Leyva L, Alvarez-Lafuente R, Zettl UK, Oksenberg J, Montalban X, Comabella M. IL28B polymorphisms are not associated with the response to interferon-β in multiple sclerosis. J Neuroimmunol. 239(1-2):101-4, 2011

Morris H, Morgan MD, Wood AM, Smith SW, Ekeowa UI, Herrmann K, Holle JU, Guillevin L, Lomas DA, Perez J, Pusey CD, Salama AD, Stockley R, Wieczorek S, McKnight AJ, Maxwell AP, Miranda E, Williams J, Savage CO, Harper L. ANCA-associated vasculitis is linked to carriage of the Z allele of ?? antitrypsin and its polymers. Ann Rheum Dis. 70(10):1851-6, 2011

Stüwe SH, Goetze O, Arning L, Banasch M, Schmidt WE, Schöls L, Saft C. Hepatic mitochondrial dysfunction in Friedreich ataxia. BMC Neurol. Nov 15;11:145, 2011

Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; The Dutch Cancer Genetics Group, Schumacher J, Nöthen MM, Propping P. Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.
Fam Cancer. Nov 16, 2011

Kropatsch R, Streitberger K, Schulte-Middelmann T, Dekomien G, Epplen JT. On ancestors of dog breeds with focus on Weimaraner hunting dogs. J Anim Breed Genet. 128(1):64-72, 2011

Tschampa HJ, Greschus S, Vinahl M, Urbach H, Mueller MM, Gerding WM. MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. J Neurol. 258(5):935-7, 2011

Rey LK, Wieczorek S, Akkad DA, Linker RA, Chan A, Hoffjan S. Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients. Mol Cell Probes. Oct-Dec;25(5-6):255-9, 2011

Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K. SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord., 2011

Ness V, Arning L, Niesert HE, Stüttgen MC, Epplen JT, Beste C. Variations in the GRIN2B gene are associated with risky decision-making. Neuropharmacology. 61(5-6):950-6, 2011

Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Stemmler S, Betz B, Kloor M, Engel C, Büttner R, Naccarati A, Vodickova L, Novotny J, Stein A, Hemminki K, Propping P, Försti A, Canzian F, Barale R, Campa D. Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin. PLoS One. 6(6):e20464, 2011

Zwerina J, Bach C, Martorana D, Jatzwauk M, Hegasy G, Moosig F, Bremer J, Wieczorek S, Moschen A, Tilg H, Neumann T, Spriewald BM, Schett G, Vaglio A. Eotaxin-3 in Churg-Strauss syndrome: a clinical and immunogenetic study. Rheumatology (Oxford). Oct:50(10):1823-7, 2011

[TOP]

2012

Schulz S, Arning L, Pinnow M, Wascher E, Epplen JT, Beste C. When control fails: Influence of the prefrontal but not striatal dopaminergic system on behavioural flexibility in a change detection task.
Neuropharmacology. 62(2):1028-33, 2012

[TOP]