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Publikationen 2012

 

Wissenschaftliche Originalarbeiten

 

  1. Adhikari K, AlChawa T, Ludwig K, Mangold E, Laird N, Lange C (2012) Is it rare or common? Genetic Epidemiology 36:419-429.
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  3. Antal AS, Kulichova D, Redler S, Betz RC, Ruzicka T (2012) Steatocystoma multiplex: keratin 17 – the key player? British Journal of Dermatology 167:1395-1397.
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  5. Anthoni H, Sucheston LE, Lewis BA, Tapia-Páez I, Fan X, Zucchelli M, Taipale M, Stein CM, Hokkanen ME, Castrén E, Pennington BF, Smith SD, Olson RK, Tomblin JB, Schulte-Körne G, Nöthen M, Schumacher J, Müller-Myhsok B, Hoffmann P, Gilger JW, Hynd GW, Nopola-Hemmi J, Leppanen PH, Lyytinen H, Schoumans J, Nordenskjöld M, Spencer J, Stanic D, Boon WC, Simpson E, Mäkelä S, Gustafsson JÅ, Peyrard-Janvid M, Iyengar S, Kere J (2012) The Aromatase Gene CYP19A1: Several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior Genetics 42:509-527.
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  7. Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Reutter H, Zwink N (2012) Inheritance of the VATER/VACTERL association. Pediatric Surgery International 28:681-685.
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  9. Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IA, Solomon BD, Reutter HM (2012) VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clinical Dysmorphology 21:191-195.
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  11. Becker AA, Graeser MK, Landwehr C, Hilger T, Baus W, Wappenschmidt B, Meindl A, Weber RG*, Schmutzler RK* (2012) A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. Breast Cancer Research and Treatment 135:167-175. *These authors contributed equally as senior authors.
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  13. Becker J, Czamara D, Hoffmann P, Landerl K, Blomert L, Brandeis D, Vaessen A, Maurer U, Moll K, Ludwig KU, Müller-Myhsok B, M, Schulte-Körne G, Schumacher J (2012) Evidence for the involvement of ZNF804A in cognitive processes of relevance to reading and spelling. Translation Psychiatry 2:e136.
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  15. Becker J*, Wendland JR*, Haenisch B, Nöthen MM, Schumacher J (2012) A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. European Journal of Human Genetics 20:97-101. *Authors contributed equally to this work.
  16.  

  17. Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T (2012) Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. Journal of Medical Genetics 49:547-553.
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  19. Berner AL, Bagci S, Wohlleber E, Engels E, Müller A, Bartmann P, Weber RG, Reutter H (2012) Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: Report of a new case and review of the literature. Cytogenetic and Genome Research 136:308-313.
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  21. Betz RC, Cabral RM, Christiano AM, Sprecher E (2012) Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm. Journal of Investigative Dermatology 132:906-914.
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  23. Bis JC, DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, Debette S, Shulman JM, Schmidt H, Srikanth V, Schuur M, Yu L, Choi SH, Sigurdsson S, Verhaaren BF, DeStefano AL, Lambert JC, Jack CR Jr, Struchalin M, Stankovich J, Ibrahim-Verbaas CA, Fleischman D, Zijdenbos A, den Heijer T, Mazoyer B, Coker LH, Enzinger C, Danoy P, Amin N, Arfanakis K, van Buchem MA, de Bruijn RF, Beiser A, Dufouil C, Huang J, Cavalieri M, Thomson R, Niessen WJ, Chibnik LB, Gislason GK, Hofman A, Pikula A, Amouyel P, Freeman KB, Phan TG, Oostra BA, Stein JL, Medland SE, Vasquez AA, Hibar DP, Wright MJ, Franke B, Martin NG, Thompson PM; Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium [Mattheisen M, Mühleisen TW, Nöthen MM, Cichon S], Nalls MA, Uitterlinden AG, Au R, Elbaz A, Beare RJ, van Swieten JC, Lopez OL, Harris TB, Chouraki V, Breteler MM, De Jager PL, Becker JT, Vernooij MW, Knopman D, Fazekas F, Wolf PA, van der Lugt A, Gudnason V, Longstreth WT Jr, Brown MA, Bennett DA, van Duijn CM, Mosley TH, Schmidt R, Tzourio C, Launer LJ, Ikram MA, Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (2012) Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nature Genetics 44:545-551.
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  25. Bogdanović R, Kuburović V, Stajić N, Mughal SS, Hilger A, Ninić S, Prijić S, Ludwig M (2012) Liddle syndrome in a Serbian family and literature review of underlying mutations. European Journal of Pediatrics 171:471-478. Review.
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  27. Brockschmidt A*, Chung B*, Weber S, Fischer DC, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG (2012) CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). Nephrology Dialysis Transplantation 27:2355-2364. *These authors contributed equally to this work.
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  29. Brockschmidt A, Trost D, Peterziel H, Zimmermann K, Ehrler M, Grassmann H, Pfenning PN, Waha A, Wohlleber D, Brockschmidt FF, Jugold M, Hoischen A, Kalla C, Waha A, Seifert G, Knolle -PA, Latz E, Hans VH, Wick W, Pfeifer A, Angel P, Weber RG (2012) KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas. Brain 135:1027-1041.
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  31. Broderick P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, Olver B, Ma YP, Dobbins SE, Walker BA, Davies FE, Gregory WA, Child JA, Ross FM, Jackson GH, Neben K, Jauch A, Hoffmann P, Mühleisen TW, Nöthen MM, Moebus S, Tomlinson IP, Goldschmidt H, Hemminki K, Morgan GJ, Houlston RS (2012) Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nature Genetics 44:58-61.
  32.  

  33. Carrera N, Arrojo M, Sanjuán J, Ramos-Ríos R, Paz E, Suárez-Rama JJ, Páramo M, Agra S, Brenlla J, Martínez S, Rivero O, Collier DA, Palotie A, Cichon S, Nöthen MM, Rietschel M, Rujescu D, Stefansson H, Steinberg S, Sigurdsson E, St Clair D, Tosato S, Werge T, Stefansson K, González JC, Valero J, Gutiérrez-Zotes A, Labad A, Martorell L, Vilella E, Carracedo Á, Costas J (2012) Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. Biological Psychiatry 71: 169-177.
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  35. Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S (2012) Linkage-disequilibrium-based binning affects the interpretation of GWASs. American Journal of Human Genetics 90:727-733.
  36.  

  37. Christoforou A, Mattheisen M, Giddaluru S, Steen VM, Le Hellard S (2012) Response to Zhu et al. Zhu X, Feng T, Elston RC (2012) Linkage-disequilibrium-based binning misleads the interpretation of genome-wide association studies. American Journal of Human Genetics 90:965-968]. American Journal of Human Genetics 90:969-970.
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  39. Degenhardt F, Priebe L, Herms S, Mattheisen M, Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C, Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C, Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S (2012) Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample. American Journal of Medical Genetics Part B 159B:263-273.
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  41. Derks EM, Vorstman JA, Ripke S, Kahn RS; Schizophrenia Psychiatric Genomic Consortium [Cichon S, Mattheisen M, Nöthen S], Ophoff RA (2012) Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis. PLoS One 7:e37852.
  42.  

  43. Draaken M, Prins W, Zeidler C, Hilger A, Mughal SS, Latus J, Boemers TM, Schmidt D, Schmiedeke E, Spychalski N, Bartels E, Nöthen MM, Reutter H, Ludwig M (2012) Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. International Journal of Molecular Medicine 30:1459-1464.
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  45. Ebert AK, Kliesch S, Neissner C, Reutter H, Rösch WH (2012) Testicular tumors in patients with exstrophy-epispadias complex. Journal of Urology 188:1300-1305.
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  47. Ebert AK, Reutter H, Neissner C, Rösch W (2012) Transition von Jugendlichen mit Blasenekstrophie-Epispadie Komplex in die Erwachsenenmedizin: Implikationen des Langzeitverlaufes für das Management [Transition of adolescents with the exstrophy-epispadias complex to adult medicine: Influence of long-term outcome results on management]. Klinische Pädiatrie 224:455-460.
  48.  

  49. Eggermann T, Spengler S, Gamerdinger U, Denecke B, Grimm S, Grimm M, Schubert R, Schwanitz G (2012) Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints. Journal of Pediatric Genetics 2:143-147.
  50.  

  51. Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, García EG, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF (2012) Risks of less common cancers in proven mutation carriers with lynch syndrome. Journal of Clinical Oncology 30:4409-4415.
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  53. Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RCM, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H (2012) A phenotype map for 14q32.3 terminal deletions. American Journal of Medical Genetics Part A 158A:695-706.
  54.  

  55. Ersland KM, Christoforou A, Stansberg C, Espeseth T, Mattheisen M, Mattingsdal M, Hardarson GA, Hansen T, Fernandes CP, Giddaluru S, Breuer R, Strohmaier J, Djurovic S, Nöthen MM, Rietschel M, Lundervold AJ, Werge T, Cichon S, Andreassen OA, Reinvang I, Steen VM, Le Hellard S (2012) Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders. PLoS ONE 7: e31687.
  56.  

  57. Etain B, Dumaine A, Bellivier F, Pagan C, Francelle L, Goubran-Botros H, Moreno S, Deshommes J, Moustafa K, Le Dudal K, Mathieu F, Henry C, Kahn JP, Launay JM, Mühleisen TW, Cichon S, Bourgeron T, Leboyer M, Jamain S (2012) Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder. Human Molecular Genetics 21:4030-4037.
  58.  

  59. Falk A, Koch P, Kesavan J, Takashima Y, Ladewig J, Alexander M, Wiskow O, Tailor J, Trotter M, Pollard S, Smith A, Brüstle O (2012) Capture of neuroepithelial-like stem cells from pluripotent stem cells provides a versatile system for in vitro production of human neurons. PLoS ONE 7:e29597.
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  61. Fier H, Won S, Prokopenko D, AlChawa T, Ludwig KU, Fimmers R, Silverman EK, Pagano M, Mangold E, Lange C (2012) 'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate. Bioinformatics 28:3027-3033.
  62.  

  63. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U (2012) Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 131:1761-1773.
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  65. Forstbauer LM*, Brockschmidt FF*, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Bartels NG, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC (2012) Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics 20:326-332. *These authors contributed equally to this work.
  66.  

  67. Frank J, Cichon S, Treutlein J, Ridinger M, Mattheisen M, Hoffmann P, Herms S, Wodarz N, Soyka M, Zill P, Maier W, Mössner R, Gaebel W, Dahmen N, Scherbaum N, Schmäl C, Steffens M, Lucae S, Ising M, Müller-Myhsok B, Nöthen MM, Mann K, Kiefer F, Rietschel M (2012) Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Addiction Biology 17:171-180.
  68.  

  69. Gardès P, Forveille M, Alyanakian MA, Aucouturier P, Ilencikova D, Leroux D, Rahner N, Mazerolles F, Fischer A, Kracker S, Durandy A (2012) Human MSH6 deficiency is associated with impaired antibody maturation. Journal of Immunology 188:2023-2029.
  70.  

  71. Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, Bussche HV, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer’s Disease 28:377-387.
  72.  

  73. Giard C, Nicolie B, Drouet M, Lefebvre-Lacoeuille C, Le Sellin J, Bonneau JC, Maillard H, Rénier G, Cichon S, Ponard D, Drouet C, Martin L (2012) Angio-oedema induced by oestrogen contraceptives is mediated by bradykinin and is frequently associated with urticaria. Dermatology 225:62-69.
  74.  

  75. Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC*, Strom TM* (2012) Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. American Journal of Human Genetics 91:754-759. *These authors contributed equally to this work.
  76.  

  77. Gladwin TE, Derks EM; Genetic Risk and Outcome of Psychosis (GROUP), Rietschel M, Mattheisen M, Breuer R, Schulze TG, Nöthen MM, Levinson D, Shi J, Gejman PV, Cichon S, Ophoff RA (2012) Segment-wise genome-wide association analysis identifies a candidate region associated with schizophrenia in three independent samples. PLoS One 7:e38828.
  78.  

  79. Gockel HR, Gockel I, Schimanski CC, Schier F, Schumacher J, Nöthen MM, Lang H, Müller M, Eckardt AJ, Eckardt VF (2012) Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease. Diseases of the Esophagus 25:566-572.
  80.  

  81. Goes FS, Hamshere ML, Seifuddin F, Pirooznia M, Belmonte-Mahon P, Breuer R, Schulze T, Nöthen MM, Cichon S, Rietschel M, Holmans P, Zandi PP; Bipolar Genome Study (BiGS), Craddock N, Potash JB (2012). Genome-wide association of mood-incongruent psychotic bipolar disorder. Translational Psychiatry 2:e180.
  82.  

  83. Hackmann K, Engels H, Schröck E (2012) Molekulare Karyotypisierung in der genetischen Diagnostik: Technologien und Anwendungen. Medizinische Genetik 2javascript:setTextFormatInput('strong','form0','text_ger','ger');4:86-93.
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  85. Hammer C,Mühleisen TW, Haenisch B, Degenhardt F, Mattheisen M, Breuer R, Witt SH, Strohmaier J, Oruc L, Rivas F, Babadjanova G, Grigoroiu-Serbanescu M, Hauser J, Röth R, Rappold G, Rietschel M, Nöthen MM, Niesler B (2012) Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study. Translation Psychiatry2:e103.
  86.  

  87. Hartz SM, Short SE, Saccone NL, Culverhouse R, Chen L, Schwantes-An TH, Coon, H, Han Y, Stephens SH, Sun J, Chen X, Ducci F, Dueker N, Franceschini N, Frank J, Geller F, Gubjartsson D, Hansel NN, Jiang C, Keskitalo-Vuokko K, Liu Z, Lyytikäinen LP, Michel M, Rawal R, Rosenberger A, Scheet P, Shaffer JR, Teumer A, Thompson JR, Vink JM, Vogelzangs N, Wenzlaff AS, Wheeler W, Xiao X, Yang BZ, Aggen SH, Balmforth AJ, Baumeister SE, Beaty T, Bennett S, Bergen AW, Boyd HA, Broms U, Campbell H, Chatterjee N, Chen J, Cheng YC, Cichon S, Couper D, Cucca F, Dick DM, Foroud T, Furberg H, Giegling I, Gu F, Hall AS, Hällfors J, Han S, Hartmann AM, Hayward C, Heikkilä K, Hewitt JK, Hottenga JJ, Jensen MK, Jousilahti P, Kaakinen M, Kittner SJ, Konte B, Korhonen T, Landi MT, Laatikainen T, Leppert M, Levy SM, Mathias RA, McNeil DW, Medland SE, Montgomery GW, Muley T, Murray T, Nauck M, North K, Pergadia M, Polasek O, Ramos EM, Ripatti S, Risch A, Ruczinski I, Rudan I, Salomaa V, Schlessinger D, Styrkársdóttir U, Terracciano A, Uda M, Willemsen G, Wu X, Abecasis G, Barnes K, Bickeböller H, Boerwinkle E, Boomsma DI, Caporaso N, Duan J, Edenberg HJ, Francks C, Gejman PV, Gelernter J, Grabe HJ, Hops H, Jarvelin MR, Viikari J, Kähönen M, Kendler KS, Lehtimäki T, Levinson DF, Marazita ML, Marchini J, Melbye M, Mitchell BD, Murray JC, Nöthen MM, Penninx BW, Raitakari O, Rietschel M, Rujescu D, Samani NJ, Sanders AR, Schwartz AG, Shete S, Shi J, Spitz M, Stefansson K, Swan GE, Thorgeirsson T, Völzke H, Wei Q, Wichmann HE, Amos CI, Breslau N, Cannon DS, Ehringer M, Grucza R, Hatsukami D, Heath A, Johnson EO, Kaprio J, Madden P, Martin NG, Stevens VL, Stitzel JA, Weiss RB, Kraft P, Bierut LJ (2012) Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Archives of General Psychiatry 69:854-860.
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  89. Håvik B, Degenhardt FA, Johansson S, Fernandes CP, Hinney A, Scherag A, Lybæk H, Djurovic S, Christoforou A, Ersland KM, Giddaluru S, O'Donovan MC, Owen MJ, Craddock N, Mühleisen TW, Mattheisen M, Schimmelmann BG, Renner T, Warnke A, Herpertz-Dahlmann B, Sinzig J, Albayrak Ö, Rietschel M, Nöthen MM, Bramham CR, Werge T, Hebebrand J, Haavik J, Andreassen OA, Cichon S, Steen VM, Le Hellard S (2012) DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS One 7:e35424.
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  91. Heindl M, Händel N, Ngeow J, Kionke J, Wittekind C, Kamprad M, Rensing-Ehl A, Ehl S, Reifenberger J, Loddenkemper C, Maul J, Hoffmeister A, Aretz S, Kiess W, Eng C, Uhlig HH (2012). Autoimmunity, intestinal lymphoid hyperplasia and defects in mucosal B cell homeostasis in PTEN hamartoma tumor syndrome. Gastroenterology 142:1093-1096.
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  93. Herold C*, Mattheisen M*, Lacour A*, Vaitsiakhovich T, Angisch M, Drichel D, Becker T (2012) Integrated genome-wide pathway association analysis with INTERSNP. Human Heredity 73:63-72. *These authors contributed equally to this work.
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  95. Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M (2012) Familial occurrence of the VATER/VACTERL association. Pediatric Surgery International 28:725-729.
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  97. Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A (2012) Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics 90:565-572.
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  99. Jagielska D, Redler S, Brockschmidt FF, Herold C, Pasternack SM, Garcia Bartels N, Hanneken S, Eigelshoven S, Refke M, Barth S, Giehl KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Blume-Peytavi U, Becker T, Nöthen MM, Betz RC (2012) Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance. Journal of Investigative Dermatology 132:2192-2197.
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  101. Jenetzky E, Reckin S, Schmiedeke E, Schmidt D, Schwarzer N, Grasshoff-Derr S, Zwink N, Bartels E, Rissmann A, Leonhardt J, Weih S, Obermayr F, Rädecke J, Palta M, Kosch F, Götz G, Hofbauer A, Schäfer M, Reutter H, Holland-Cunz S, Märzheuser S (2012) Practice of dilatation after surgical correction in anorectal malformations. Pediatric Surgery International 28:1095-1099.
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Übersichtsarbeiten / Bücher / Kommentare

 

  1. Gockel I, Müller M, Schumacher J (2012) Achalasia – a disease of unknown cause that is often diagnosed too late [Achalasie – eine oft zu spät diagnostizierte und ätiologisch ungeklärte Krankheit]. Deutsches Ärzteblatt International 109:209-214.
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  3. Hackmann K, Engels H, Schröck E (2012) Molekulare Karyotypisierung in der genetischen Diagnostik: Technologien und Anwendungen. Medizinische Genetik 24:86-93.
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  5. Haenisch B, Nöthen MM, Molderings GJ (2012) Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology 137:197-205.
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  7. Roos A, Brauers E, Buchkremer S, Spengler S, Schüler HM, Schwanitz G (2012) Subtelomeric endings-chromosomal regions with a high diagnostic impact in mental retardation syndromes: Insights from the past two decades. Taking a closer look at chromosome tips. In: Mancini DF, Greco CM (eds.) Intellectual disability. management, causes and social perceptions. Nova Science Publishers:1-30.
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  9. Schumacher J, Propping P (2012) Seelische Erkrankungen zwischen Anlage und Umwelt: Neue humangenetische Befunde zu einem alten Problem. In: Freytag H, Krahl G, Krahl C, Thomann K-D (Hrsg): Psychotraumatologische Begutachtung. Referenz-Verlag Frankfurt, 49-68.
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  11. Spier I, Aretz S (2012) Polyposissyndrome des Gastrointestinaltrakts [Gastrointestinal polyposis syndromes]. Internist 53:371-383
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