Forschung

Publikationen

2017 | 2016 l 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006

2017

  • Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). Hattingen E, Handke N, Cremer K, Hoffjan S, Kukuk GM. Clin Neuroradiol. 2017;27(4): 481-483 (Impact(2016)=2.618, Typ=Journal Article)
  • Epigenetic regulation of lateralized fetal spinal gene expression underlies hemispheric asymmetries. Ocklenburg S, Schmitz J, Moinfar Z, Moser D, Klose R, Lor S, Kunz G, Tegenthoff M, Faustmann P, Francks C, Epplen JT, Kumsta R, Güntürkün O. Elife. 2017;6 (Impact(2016)=7.725, Typ=Article; Journal Article)
  • Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center. Ibisler A, Ocklenburg S, Stemmler S, Arning L, Epplen JT, Saft C, Hoffjan S. J Genet Couns. 2017;26(5): 1029-1040 (Impact(2016)=1.938, Typ=Article; Journal Article)
  • Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression. Schneider-Gold C, Dekomien G, Regensburger M, Schneider R, Trampe N, Krogias C, Lukas C, Bellenberg B. J Neurol Sci. 2017;381: 265-268 (Impact(2016)=2.295, Typ=Article; Journal Article)
  • Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. Reuter MS, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. JAMA Psychiatry. 2017;74(3): 294-300 (Impact: liegt nicht vor, Typ=Article)
  • Myelin Genes and the Corpus Callosum: Proteolipid Protein 1 (PLP1) and Contactin 1 (CNTN1) Gene Variation Modulates Interhemispheric Integration. Ocklenburg S, Gerding WM, Arning L, Genç E, Epplen JT, Güntürkün O, Beste C. Mol Neurobiol. 2017;54(10): 7908-7916 (Impact(2016)=6.19, Typ=Article; Journal Article)
  • Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients. Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS. Neurobiol Aging. 2017;56: 213.e1-213.e5 (Impact(2016)=5.117, Typ=Article; Journal Article)
  • Genome-wide profiling of S/MAR-based replicon contact sites. Hagedorn C, Gogol-Döring A, Schreiber S, Epplen JT, Lipps HJ. Nucleic Acids Res. 2017;45(13): 7841-7854 (Impact(2016)=10.162, Typ=Article; Journal Article)

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2016

  • A large deletion in RPGR causes XLPRA in Weimaraner dogs. Kropatsch R, Akkad DA, Frank M, Rosenhagen C, Altmüller J, Nürnberg P, Epplen JT, Dekomien G. Canine Genet Epidemiol. 2016 Jul 8;3:7.
  • A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature. Rey LK, Kohlhase J, Möllenhoff K, Dekomien G, Epplen JT, Hoffjan S. Mol Syndromol. 2016 Apr;7(1):26-31.
  • Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C. G3 (Bethesda). 2016 Jul 7;6(7):2073-9.
  • Dissociable electrophysiological subprocesses during response inhibition are differentially modulated by dopamine D1 and D2 receptors. Beste C, Stock AK, Epplen JT, Arning L. Eur Neuropsychopharmacol. 2016 Jun;26(6):1029-36.
  • Multiple sclerosis in families: risk factors beyond known genetic polymorphisms. Akkad DA, Lee DH, Bruch K, Haghikia A, Epplen JT, Hoffjan S, Linker RA. Neurogenetics. 2016 Apr;17(2):131-5.
  • HLA-DPB1 as a Risk Factor for Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Cohort Study.
    Hilhorst M, Arndt F, Joseph Kemna M, Wieczorek S, Donner Y, Wilde B, Epplen JT, van Paassen P, Cohen Tervaert JW. Arthritis Rheumatol. 2016;68(7): 1721-30
  • Effects of l-Tyrosine on working memory and inhibitory control are determined by DRD2 genotypes: A randomized controlled trial. Colzato LS, Steenbergen L, Sellaro R, Stock AK, Arning L, Beste C. Cortex. 2016;82: 217-24
  • Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Eur J Hum Genet. 2016;24(1): e1-5
  • Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1. Dringenberg T, Sorokina M, Ehlers M, Dekomien G, Haase M, Schulze E, Quinkler M, Rump LC, Schott M, Willenberg HS. Horm Metab Res. 2016;48(12): 865-868
  • A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L, DDD study , Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA. J Med Genet. 2016;53(8): 523-32
  • The search for modifier genes in Huntington disease - Multifactorial aspects of a monogenic disorder. Arning L. Mol Cell Probes. 2016;30(6): 404-409
  • WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature. Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL. Mol Cell Probes. 2016;30(1): 44-9
  • Dissecting the genetic background of multifactorial diseases and traits - A major challenge for genetic research. Hoffjan S. Mol Cell Probes. 2016;30(6): 345
  • Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
    Schubert SF, Hoffjan S, Dekomien G. Mol Cell Probes. 2016;30(1): 53-5
  • Trying to understand the genetics of atopic dermatitis. Stemmler S, Hoffjan S. Mol Cell Probes. 2016;30(6): 374-385
  • Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults. Ocklenburg S, Arning L, Gerding WM, Hengstler JG, Epplen JT, Güntürkün O, Beste C, Akkad DA. Mol Neurobiol. 2016;53(9): 6355-6361
  • Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Neurology. 2016;87(21): 2235-2243
  • Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.
    Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, Kadar J, von Kodolitsch Y, Germer CT, Trobisch H, Strasser E, Wildenauer R. Orphanet J Rare Dis. 2016;11(1): 111

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2015

  • Hoffjan S, Stemmler S. Unravelling the complex genetic background of atopic dermatitis: from genetic association results towards novel therapeutic strategies. Arch Dermatol Res. 2015;307(8):659-70
  • Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R. LAMA2-related congenital muscular dystrophy complicated by West syndrome. Eur J Paediatr Neurol. 2015;19(2):243-7
  • Gu BJ, Field J, Dutertre S, Ou A, Kilpatrick TJ, Lechner-Scott J, Scott R, Lea R, Taylor BV, Stankovich J, Butzkueven H, Gresle M, Laws SM, Petrou S, Hoffjan S, Akkad DA, Graham CA, Hawkins S, Glaser A, Bedri SK, Hillert J, Matute C, Antiguedad A; ANZgene Consortium, Wiley JS. A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis. Hum Mol Genet. 2015;24(19):5644-54
  • Hoffjan S, Okur A, Epplen JT, Wieczorek S, Chan A, Akkad DA. Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort. Int J Immunogenet. 2015;42(2): 106-10  
  • Kropatsch R, Melis C, Stronen AV, Jensen H, Epplen JT. Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed. J Hered. 2015;106(4): 403-6
  • Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015;135(2):615-8  
  • Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S. Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. J Neurol Sci. 2015;349(1-2): 105-9
  • Prejbisz A, Sellin L, Szwench-Pietrasz E, Woznowski M, Micha?owska I, Blondin D, Sajnaga D, Epplen JT, Litwin M, Dekomien G, Januszewicz M, Helmchen U, Matuszkiewicz-Rowińska J, Adamczak M, Więcek A, Januszewicz A, Rump LC. Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease. Kidney Int. 2015;88(1): 160-6
  • Hoffjan S. Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges..Mol Cell Probes. 2015;29(5):259
  • Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A Abicht A. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. Mol Cell Probes. 2015;29(5):319-22
  • Haghikia A, Faissner S, Pappas D, Pula B, Akkad DA, Arning L, Ruhrmann S, Duscha A, Gold R, Baranzini SE, Malhotra S, Montalban X, Comabella M, Chan A. Interferon-beta affects mitochondrial activity in CD4+ lymphocytes: Implications for mechanism of action in multiple sclerosis. Mult Scler. 2015;21(10):1262-70
  • Bellenberg B, Schneider R, Weiler F, Suchan B, Haghikia A, Hoffjan S, Gold R, Köster O, Lukas C. Cervical cord area is associated with infratentorial grey and white matter volume predominantly in relapsing-remitting multiple sclerosis: A study using semi-automated cord volumetry and voxel-based morphometry. Mult Scler Relat Disord. 2015;4(3): 264-72
  • Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015;47(7): 803-8
  • Akkad DA, Bellenberg B, Esser S, Weiler F, Epplen JT, Gold R, Lukas C, Haghikia A. Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability. Neurogenetics. 2015;16(3): 161-8
  • Claassen J, Gerding WM, Kastrup O, Uslar E, Goericke S, Timmann D. Excessive brain iron accumulation in spinocerebellar ataxia type 17. Neurology. 2015;84(2): 212-3
  • Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M. Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscul Disord. 2015;25(5):392-6
  • Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet J Rare Dis. 2015;10: 134
  • Akkad DA, Olischewsky A, Reiner F, Hellwig K, Esser S, Epplen JT, Curk T, Gold R, Haghikia A. Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.
    PLoS ONE. 2015;10(5): e0127632
  • Arning L, Ocklenburg S, Schulz S, Ness V, Gerding WM, Hengstler JG, Falkenstein M, Epplen JT, Güntürkün O, Beste C Handedness and the X chromosome: the role of androgen receptor CAG-repeat length. Sci Rep. 2015;5: 8325
  • Farke CM, Olek K, Gerding WM, Distler C. Multiple paternity and sperm storage in captive Hermann's tortoises, Testudo hermanni boettgeri determined from amniotic fluid adhering to the eggshell. Mol Cell Probes. 2015 May 21. pii: S0890-8508(15)30002-5.
  • Akkad DA, Gerding WM, Gasser RB, Epplen JT. Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs Canine Genetics and Epidemiology 2015, 2:5
  • Haghikia A, Jörg S, Duscha A, Berg J, Manzel A, Waschbisch A, Hammer A, Lee DH, May C, Wilck N, Balogh A, Ostermann AI, Schebb NH, Akkad DA, Grohme DA, Kleinewietfeld M, Kempa S, Thöne J, Demir S, Müller DN, Gold R, Linker RA
    Dietary Fatty Acids Directly Impact Central Nervous System Autoimmunity via the Small Intestine. Immunity. 2015;43(4): 817-29
  • Kastner S, Thiemann IJ, Dekomien G, Petrasch-Parwez E, Schreiber S, Akkad DA, Gerding WM, Hoffjan S, Günes S, Günes S, Bagci H, Epplen JT . Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Invest Ophthalmol Vis Sci. 2015;56(13): 8045-53
  • Arning L, Witt CN, Epplen JT, Stemmler S Genetic Counselling for Predictive Testing in Huntington's Disease in One Centre since 1993. Gender-Specific Aspects of Decision-Making. J Huntingtons Dis. 2015;4(1): 87-98
  • Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L. Genome-wide significant association with seven novel multiple sclerosis risk loci. J Med Genet. 2015;52(12): 848-55
  • Schrewe L, Lill CM, Liu T, Salmen A, Gerdes LA, Guillot-Noel L, Akkad DA, Blaschke P, Graetz C, Hoffjan S, Kroner A, Demir S, Böhme A, Rieckmann P, ElAli A, Hagemann N, Hermann DM, Cournu-Rebeix I, Zipp F, Kümpfel T, Buttmann M, Zettl UK, Fontaine B, Bertram L, Gold R, Chan A. Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS. J Neuroinflammation. 2015;12(1): 234
  • Hoffjan S, Epplen JT, Reis A, Abou Jamra R. MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. Mol Syndromol. 2015;6(2): 58-62
  • Ibisler A, Hehr U, Barth A, Koch M, Epplen JT, Hoffjan S Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. Mol Syndromol. 2015;6(4): 173-80
  • Duscha A, Joerg S, Berg J, Hammer A, Akkad DA, Mueller DN, Gold R, Linker RA, Haghikia A Dietary fatty acids directly affect immune response in CNS autoimmunity via the small intestine. Mult Scler. 2015;21 11: 165-16

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2014

  • Husmann CA, Holle JU, Moosig F, Mueller S, Wilde B, Cohen Tervaert JW, Harper L, Assmann G, Gross WL, Epplen JT, Wieczorek S. Genetics of toll like receptor 9 in ANCA associated vasculitides. Ann Rheum Dis. 73(5): 890-6, 2014
  • Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen JT, Hoffjan S. Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort. BMC Dermatol. 14(1): 17, 2014
  • Saft C, Leavitt BR, Epplen JT. Clinical utility gene card for: Huntington's disease. Eur J Hum Genet. 22(5), 2014
  • Arning L, Stock AK, Kloster E, Epplen JT, Beste C. NPY2-receptor variation modulates iconic memory processes. Eur Neuropsychopharmacol. 24(8): 1298-302, 2014
  • Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C, German HNPCC Consortium , Epplen T, Kötting J, Munding J, Pox C, Schmiegel W, Schulmann K, Stemmler S, Tannapfel A, Sengteller M, Clade S, Fries N, Betz B, Goecke T, Rahner N, Möslein G, Kiehl O, Koch S, Tschischka A, Geissler M, Sieghardt A, Schröck E, Aust DE, Pistorius S, Berth H, Bläker H, Evers C, Kadmon M, Keller M, Kloor M, Moog U, Tariverdian M, Meilhaus S, Vogelsang H, Langer R, Friedrichs N, Kahl P, Enders U, Herold M, Wieland K, Zachariae S. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families. Int J Cancer. 135(1): 69-77, 2014
  • Kloster E, Saft C, Akkad DA, Epplen JT, Arning L. Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R. J Mol Med. 92(2): 177-84, 2014
  • Beytía MD, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J. High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. Mol Cell Probes. 28(4): 118-22, 2014
  • Lill CM, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide BM, Mashychev A, Graetz C, Akkad DA, Gerdes LA, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Zipp F, Bertram L. Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis. Neurogenetics. 15(2): 129-34, 2014
  • Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen JT, Hoffjan S. Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort. BMC Dermatol. 14:17, 2014
  • Varzari A, Bruch K, Deyneko IV, Chan A, Epplen JT, Hoffjan S. Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients. J Neuroimmunol. 277(1-2):140-4, 2014
  • Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G. Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening. Mol Cell Probes. 28(5-6):279-83, 2014
  • Beste C, Stock AK, Epplen JT, Arning L. On the relevance of the NPY2-receptor variation for modes of action cascading processes. Neuroimage. 102, 2014
    Stock AK, Arning L, Epplen JT, Beste C. DRD1 and DRD2 genotypes modulate processing modes of goal activation processes during action cascading.  Neurosci. 34(15):5335-41, 2014
  • Wieczorek S, Holle JU, Cohen Tervaert JW, Harper L, Moosig F, Gross WL, Epplen JT. The SEM6A6 locus is not associated with granulomatosis with polyangiitis or other forms of antineutrophil cytoplasmic antibody-associated vasculitides in Europeans: comment on the article by Xie et al. Arthritis Rheumatol. 66(5):1400-1, 2014
  • Hoffjan S, Epplen JT, Reis A, Abou Jamra R. MAN1B1 mutation leads to a recognizable phenotype: case report and future prospects. Mol Syndromol. Accepted.
  • Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos Disease: additional mutations and clinical overlap with reticulate acropigmentation of Kitamura. J Invest Dermatol., 2014
  • Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T. Long survival in leigh syndrome: new cases and review of literature. Neuropediatrics.45(6):346-53, 2014
  • Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Mol Genet Genomic Med. 2(2):176-85, 2014
  • Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy. Trippe H, Wieczorek S, Kötting J, Kress W, Schara U. Neuropediatrics. 2014; 45(5):333-5

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2013

  • Gerding WM, Akkad DA, Epplen JT. Spotted Weimaraner dog due to de novo KIT mutation. Anim Genet, 2013 [Epub ahead of print]
  • Ocklenburg S, Arning L, Gerding WM, Epplen JT, Güntürkün O, Beste C. FOXP2 variation modulates functional hemispheric asymmetries for speech perception. Brain Lang , 2013 [Epub ahead of print]
  • Kloster E, Saft C, Epplen JT, Arning L. CNR1 variation is associated with the age at onset in Huntington disease. Eur J Med Genet, 2013 [Epub ahead of print]
  • Schröder NW, Grieben U, Prokop S, Dekomien G, Epplen JT, Heppner FL, Goebel HH, Stenzel W. A Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression. Muscle Nerve, 2013 [Epub ahead of print]
  • Arning L, Epplen JT. Genetic modifiers in Huntington's disease: fiction or fact? Neurogenetics, 2013 [Epub ahead of print]
  • International Multiple Sclerosis Genetics Consortium , Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández O, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. Brain 136(Pt 6): 1778-82, 2013
  • Becerikli M, Jacobsen F, Rittig A, Kohne W, Nambiar S, Mirmohammadsadegh A, Stricker I, Tannapfel A, Wieczorek S, Epplen JT, Tilkorn D, Steinstraesser L Growth rate of late passage sarcoma cells is independent of epigenetic events but dependent on the amount of chromosomal aberrations. Exp Cell Res 319: 1724-31, 2013
  • Lill CM, Schjeide BM, Graetz C, Liu T, Damotte V, Akkad DA, Blaschke P, Gerdes LA, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Fontaine B, Zipp F, Vandenbroeck K, Bertram L. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk. J Med Genet 50: 140-3, 2013
  • Arning L, Epplen JT, Rahikkala E, Hendrich C, Ludolph AC, Sperfeld AD. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. Neurogenetics 14: 53-61, 2013
  • Arning L, Ocklenburg S, Schulz S, Ness V, Gerding WM, Hengstler JG, Falkenstein M, Epplen JT, Güntürkün O, Beste C. PCSK6 VNTR Polymorphism Is Associated with Degree of Handedness but Not Direction of Handedness. PLoS ONE 8(6): e67251, 2013
  • Ocklenburg S, Arning L, Gerding WM, Epplen JT, Güntürkün O, Beste C. Cholecystokinin A receptor (CCKAR) gene variation is associated with language lateralization. PLoS ONE 8(1): e53643, 2013
  • Lebe M, Hasenbring MI, Schmieder K, Jetschke K, Harders A, Epplen JT, Hoffjan S, Kötting. Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery. Pain 154: 377-84, 2013
  • Kropatsch R, Dekomien G, Akkad DA, Gerding WM, Petrasch-Parwez E, Young ND, Altmüller J, Nürnberg P, Gasser RB, Epplen JT. SOX9 duplication linked to intersex in deer. PLoS One. 6;8(9) ,2013
  • Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 260(6):1504-10, 2013
  • Sobek AK, Evers C, Dekomien G. Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. Mol Cell Probes. 27(1):32-7,2013
  • Chand S, Holle JU, Hilhorst M, Simmonds MJ, Smith S, Kamesh L, Hewins P, McKnight AJ, Maxwell AP, Cohen Tervaert JW, Wieczorek S, Harper L, Borrows R. Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS One. 2013; 19;8(7)

[Seitenanfang]

 

2012

  • Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A. Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. Clin Genet. 81(1): 82-7, 2012
  • Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. J Med Genet 49: 558-62, 2012
  • Beste C, Stock AK, Ness V, Epplen JT, Arning L .Differential effects of ADORA2A gene variations in pre-attentive visual sensory memory subprocesses. Eur Neuropsychopharmacol 22: 555-61, 2012
  • 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 13: 83-6, 2012
  • Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K. SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord 22: 258-62, 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: 1028-33, 2012
  • 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. 11(1): 19-26, 2012
  • Ponfick M, Ludolph AC, Dekomien G, Uttner I, Kassubek J, Gdynia HJ. Inclusion Body Myositis, Paget's Disease of the Bone and Frontotemporal Dementia: Early Involvement of the Heart and Respiratory Muscles. Fortschr Neurol Psychiatr. 80(6): 344-7, 2012
  • Martindale JE, Seneca S, Wieczorek S, Sequeiros J. Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Hum Mutat. 33(9): 1359-65, 2012
  • Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S, Bonin M, Arslan-Kirchner M, von Kodolitsch Y, Binner P, Scheffold T, Stuhrmann M, Waldmüller S. High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. Mol Cell Probes. 2012
  • Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN, Cohen Tervaert JW, Deloukas P, Feighery C, Gross WL, Guillevin L, Gunnarsson I, Harper L, Hru?ková Z, Little MA, Martorana D, Neumann T, Ohlsson S, Padmanabhan S, Pusey CD, Salama AD, Sanders JS, Savage CO, Segelmark M, Stegeman CA, Tesa V, Vaglio A, Wieczorek S, Wilde B, Zwerina J, Rees AJ, Clayton DG, Smith KG. Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med. 367(3): 214-23, 2012
  • Schulz S, Arning L, Pinnow M, Epplen JT, Beste C. N-methyl-d-aspartate receptor 2B subunit (GRIN2B) gene variation is associated with alerting, but not with orienting and conflicting in the Attention Network Test. Neuropharmacology. 63(2): 259-65, 2012
  • Streitberger K, Schweizer M, Kropatsch R, Dekomien G, Distl O, Fischer MS, Epplen JT, Hertwig ST. Rapid genetic diversification within dog breeds as evidenced by a case study on Schnauzers. Anim Genet. 43(5):577-86, 2012

[Seitenanfang]

 

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 ? B (RANK), receptor activator nuclear factor ? 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

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
  • Dekomien G, Vollrath C, Petrasch-Parwez E, Boevé MH, Akkad DA, Gerding WM, Epplen JT. Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics. 11(2):163-74, 2010

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.

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

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

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 ߃¡-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
  • 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 ߃¡-adrenoceptor polymorphism on resting heart rate an blood pressure in patients with obstructive sleep apnea. CLIN SCI 110: 117-123, 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
  • 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, 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
  • 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