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Publikationen 2010

Wissenschaftliche Originalarbeiten

 

  1. Abou Jamra R, Schulze TG, Becker T, Brockschmidt FF, Green E, Alblas MA, Wendland JR, Adli M, Grozeva D, Strohmeier J, Georgi A, Craddock N, Propping P, Rietschel M, Nöthen MM, Cichon S, Schumacher J (2010) A systematic association mapping on chromosome 6q in bipolar affective disorder-evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder. American Journal of Medical Genetics 153B:878-884.
  1. Amstadter AB, Balachandar V, Bergen SE, Ceulemans S, Christensen JH, Cole J, Dagdan E, De Luca V, Ducci F, Tee SF, Hartz S, Keers R, Medland S, Melas PA, Mühleisen TW, Ozomaro U, Pidsley R, Scott AP, Sha L, Talati A, Teltsh O, Videtic A, Wang K, Wong CC, Delisi LE (2010) Selected summaries from the XVII World Congress of Psychiatric Genetics, San Diego, California, USA, 4-8 November 2009. Psychiatric Genetics 20:229-68.
  1. Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium (2010) Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nature Genetics 42:869-873.
  1. Aretz S, Hes FJ (2010) Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. European Journal of Human Genetics 18; doi:10.1038/ejhg.2010.77.
  1. Aretz S, Rautenstrauß B, Timmermann V (2010) Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. European Journal of Human Genetics 18; doi:10.1038/ejhg.2010.75
  1. Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA (2010) Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. Journal of Psychiatric Research 44:748-753.
  1. Bağci S, Müller A, Franz A, Heydweiller A, Berg C, Nöthen MM, Bartmann P, Reutter H (2010) Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. Fetal Diagnosis and Therapy 27:113-117.
  1. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV (2010) Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59:975-986.
  1. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA (2010) Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genetics 42:489-491.
  1. Bierut LJ, Agrawal A, Bucholz KK, Doheny KF, Laurie C, Pugh E, Fisher S, Fox L, Howells W, Bertelsen S, Hinrichs AL, Almasy L, Breslau N, Culverhouse RC, Dick DM, Edenberg HJ, Foroud T, Grucza RA, Hatsukami D, Hesselbrock V, Johnson EO, Kramer J, Krueger RF, Kuperman S, Lynskey M, Mann K, Neuman RJ, Nöthen MM, Nurnberger JI Jr, Porjesz B, Ridinger M, Saccone NL, Saccone SF, Schuckit MA, Tischfield JA, Wang JC, Rietschel M, Goate AM, Rice JP; Gene, Environment Association Studies Consortium (2010) A genome-wide association study of alcohol dependence. Proceedings of the National Academy of Sciences of the United States of America 107:5082-5087.
  1. Bogdanović R, Draaken M, Toromanović A, Dordević M, Stajić N, Ludwig M (2010) A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatric Nephrology 25:2363-2368.
  1. Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O (2010) Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. European Journal of Human Genetics 18:1302-1309.
  1. Breuer C, Oh J, Molderings GJ, Schemann M, Kuch B, Mayatepek E, Adam R (2010) Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations. World Journal of Gastroenterology 16:4363-4366.
  1. Brockschmidt FF*, Hillmer AM*, Eigelshoven S, Hanneken S, Heilmann S, Barth S, Herold C, Becker T, Kruse R, Nöthen MM (2010) Fine mapping of the human AR/EDA2R locus in androgenetic alopecia. British Journal of Dermatology 162:899-903. *Authors contributed equally.
  1. Busert B, Schwanitz G, Schubert R, Gamerdinger U, Schmidt-Wolf, I (2010) Characterization of the karyotype in patients with multiple myeloma by the combination of karyotype analysis, FISH and CGH. International Journal of Human Genetics 10:217-222.
  1. 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 (2010) Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study. BMC Gastroenterology 10:112.
  1. Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G (2010) A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. The FASEB Journal 24:3416-3426.
  1. Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, Draaken M, Reutter H, Gearhart JP, Ludwig M, Boyadjiev SA (2010) p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. International Journal of Molecular Medicine 26:861-867.
  1. Draaken M*, Proske J*, Schramm C, Wittler L, Bartels E, Nöthen MM, Reutter H, Ludwig M (2010) Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias. Birth Defects Research Part A: Clinical and Molecular Teratology 88:546-550. *Authors contributed equally.
  1. Draaken M*, Reutter H*, Schramm C, Bartels E, Boemers TM, Ebert, A-K, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M (2010) Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European Journal of Medical Genetics 53: 55-60. *Authors contributed equally.
  1. Ellinor PT, Lunetta KL, Glazer NL, Pfeufer A, Alonso A, Chung MK, Sinner MF, de Bakker PI, Mueller M, Lubitz SA, Fox E, Darbar D, Smith NL, Smith JD, Schnabel RB, Soliman EZ, Rice KM, Van Wagoner DR, Beckmann BM, van Noord C, Wang K, Ehret GB, Rotter JI, Hazen SL, Steinbeck G, Smith AV, Launer LJ, Harris TB, Makino S, Nelis M, Milan DJ, Perz S, Esko T, Köttgen A, Moebus S, Newton-Cheh C, Li M, Möhlenkamp S, Wang TJ, Kao WH, Vasan RS, Nöthen MM, MacRae CA, Stricker BH, Hofman A, Uitterlinden AG, Levy D, Boerwinkle E, Metspalu A, Topol EJ, Chakravarti A, Gudnason V, Psaty BM, Roden DM, Meitinger T, Wichmann HE, Witteman JC, Barnard J, Arking DE, Benjamin EJ, Heckbert SR, Kääb S (2010) Common variants in KCNN3 are associated with lone atrial fibrillation. Nature Genetics 42:240-244.
  1. Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Möslein G, Görgens H, Dechant S, Von Knebel Doeberitz M, Rüschoff J, Friedrichs N, Büttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium (2010) Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clinical Gastroenterology and Hepatology 8:174-182.
  1. Erk S, Meyer-Lindenberg A, Schnell K, Opitz von Boberfeld C, Esslinger C, Kirsch P, Grimm O, Arnold C, Haddad L, Witt SH, Cichon S, Nöthen MM, Rietschel M, Walter H (2010) Brain function in carriers of a genome-wide supported bipolar disorder variant. Archives of Genetic Psychiatry 67:803-811.
  1. Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, Munasinghe J, Scattoni ML, Ihne J, Camp M, Graybeal C, Strathdee D, Begg A, Alvarez VA, Kirsch P, Rietschel M, Cichon S, Walter H, Meyer-Lindenberg A, Grant SG, Holmes A (2010) Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. American Journal of Psychiatry 167:1508-1517.
  1. Flaquer A, Jamra RA, Etterer K, Díaz GO, Rivas F, Rietschel M, Cichon S, Nöthen MM, Strauch K (2010) A new susceptibility locus for bipolar affective disorder in PAR1 on Xp22.3/Yp11.3. American Journal of Medical Genetics B Neuropsychiatric Genetics 153B:1110-1114.
  1. Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K (2010) Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Human Mutation 31:552-560.
  1. Grigoroiu-Serbanescu M, Herms S, Diaconu CC, Jamra RA, Meier S, Bleotu C, Neagu AI, Prelipceanu D, Sima D, Gherghel M, Mihailescu R, Rietschel M, Nöthen MM, Cichon S, Mühleisen TW (2010) Possible association of different G72/G30 SNPs with mood episodes and persecutory delusions in bipolar I Romanian patients. Progress in Neuro-Psychopharmacology & Biological Psychiatry 34:657-63.
  1. Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC (2010) Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. British Journal of Dermatology 163:197-200.
  1. Homann J, Kolck UW, Ehnes A, Frieling T, Raithel M, Molderings GJ (2010) Die systemische Mastozytose – Standortbestimmung einer internistischen Erkrankung. [Systemic mastocytosis--definition of an internal disease.] Medizinische Klinik 105:544-553.
  1. Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM (2010) Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation in Brief 31:E1851-E1860 Online.
  1. Ingason A, Giegling I, Cichon S, Hansen T, Rasmussen HB, Nielsen J, Jürgens G, Muglia P, Hartmann AM, Strengman E, Vasilescu C, Mühleisen TW, Djurovic S, Melle I, Lerer B, Möller HJ, Francks C, Pietiläinen OP, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Walshe M, Vassos E, Di Forti M, Murray R, Bonetto C, Tosato S; GROUP Investigators, Cantor RM, Rietschel M, Craddock N, Owen MJ, Peltonen L, Andreassen OA, Nöthen MM, St Clair D, Ophoff RA, O'Donovan MC, Collier DA, Werge T, Rujescu D (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Human Molecular Genetics 19:1379-1386.
  1. Jansen A, Krach S, Krug A, Markov V, Thimm M, Paulus FM, Zerres K, Stöcker T, Shah NJ, Nöthen MM, Treutlein J, Rietschel M, Kircher T (2010) The effect of G72 genotype on neural correlates of memory encoding and retrieval. Neuroimage 53:1001-1006.
  1. Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, 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, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Peters O, 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, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J (2010) Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One 5:e13950.
  1. Krug A, Markov V, Krach S, Jansen A, Zerres K, Eggermann T, Stöcker T, Shah NJ, Nöthen MM, Treutlein J, Rietschel M, Kircher T (2010) The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval. Neuroimage 53:985-991.
  1. Krug A, Nieratschker V, Markov V, Krach S, Jansen A, Zerres K, Eggermann T, Stöcker T, Shah NJ, Treutlein J, Mühleisen TW, Kircher T (2010) Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. Neuroimage 49:1831-1836.
  1. Lascorz J, Försti A, Chen B, Buch S, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Schulmann K, Goecke T, Kloor M, Engel C, Büttner R, Kunkel N, Weires M, Hoffmeister M, Pardini B, Naccarati A, Vodickova L, Novotny J, Schreiber S, Krawczak M, Bröring CD, Völzke H, Schafmayer C, Vodicka P, Chang-Claude J, Brenner H, Burwinkel B, Propping P, Hampe J, Hemminki K (2010) Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. Carcinogenesis 31:1612-1619.
  1. Le Hellard S*, Mühleisen TW*, Djurovic S, Ferno J, Ouriaghi Z, Mattheisen M, Vasilescu C, Raeder MB, Hansen T, Strohmaier J, Georgi A, Brockschmidt FF, Melle I, Nenadic I, Sauer H, Rietschel M, Nöthen MM, Werge T, Andreassen OA, Cichon S*, Steen VM* (2010) Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian (SCOPE) samples. Molecular Psychiatry 15:463-472. *Authors contributed equally.
  1. Ludwig KU, Roeske D, Herms S, Schumacher J, Warnke A, Plume E, Neuhoff N, Bruder J, Remschmidt H, Schulte-Körne G, Müller-Myhsok B, Nöthen MM, Hoffmann P (2010) Variation in GRIN2B contributes to weak performance in verbal short-term memory in children with dyslexia. American Journal of Medical Genetics 153B:503-511.
  1. Manekeller S, Sauerbruch T, Fischer HP, Propping P, Hirner A (2010) Heterozygoter Alpha-1-Antitrypsin-Mangel (PiMZ): Risikofaktor zur Entwicklung eines hepatozellulären Karzinoms in der nicht zirrhotischen Leber? [Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?]. Zeitschrift für Gastroenterologie 48:1211-1214.
  1. Mangold E*, Ludwig KU*, Birnbaum S*, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Al Chawa T, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeister B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann H-E, Steegers-Theunissen RP, Kramer F-J, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM (2010) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nature Genetics 42:24-26. *Authors contributed equally.
  1. Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA (2010) Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. American Journal of Medical Genetics 152A:2628-2633.
  1. Markov V, Krug A, Krach S, Jansen A, Eggermann T, Zerres K, Stöcker T, Shah NJ, Nöthen MM, Treutlein J, Rietschel M, Kircher Tl (2010) Impact of schizophrenia-risk gene dysbindin I on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals. Human Brain Mapping 31:266-275.
  1. Mathieu F, Dizier MH, Etain B, Jamain S, Rietschel M, Maier W, Albus M, McKeon P, Roche S, Blackwood D, Muir WJ, Henry C, Malafosse A, Preisig M, Ferrero F, Cichon S, Schumacher J, Ohlraun S, Propping P, Abou Jamra R, Schulze TG, Zelenica D, Charon C, Marusic A, Dernovsek MC, Gurling H, Nöthen M, Lathrop M, Leboyer M, Bellivier F (2010) European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset. American Journal of Medical Genetics B Neuropsychiatric Genetics 153 B:1425-1433.
  1. Mauerer A, Betz RC, Pasternack SM, Landthaler M, Hafner C (2010) Generalized solar lentigines in a patient with a history of radon exposure. Dermatology 221:206-2010.
  1. McMahon FJ, Akula N, Schulze TG, Muglia P, Tozzi F, Detera-Wadleigh SD, Steele CJ, Breuer R, Strohmaier J, Wendland JR, Mattheisen M, Mühleisen TW, Maier W, Nöthen MM, Cichon S, Farmer A, Vincent JB, Holsboer F, Preisig M, Rietschel M; Bipolar Disorder Genome Study (BiGS) Consortium (2010) Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.). Nature Genetics 42:128-131.
  1. Molderings GJ (2010) Mast cell function in physiology and pathophysiology. BIOTREND Reviews 5:1-9.
  1. Molderings GJ, Meis K, Kolck UW, Homann J, Frieling T (2010) Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 62:721-727.
  1. Morreau H, Riddell RH, Aretz S (2010) MUTYH-associated polyposis. In: Bosman FT, Carneiru F, Hruban RH (eds.): WHO Classification of Tumours of the Digestive System. 4th edition, IARC, Lyon, S. 156-159.
  1. Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ (2010) Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. Journal of the National Cancer Institute 1724-1730.
  1. Nieratschker V, Frank J, Mühleisen TW, Strohmaier J, Wendland JR, Schumacher J, Treutlein J, Breuer R, Abou Jamra R
  1. , Mattheisen M, Herms S, Schmäl C, Maier W, Nöthen MM, Cichon S, Rietschel M, Schulze TG (2010) The catechol-O-methyl transferase (COMT) gene and its potential association with schizophrenia: findings from a large German case-control and family-based sample. Schizophrenia Research 122:24-30.
  1. Nikopensius T, Birnbaum S, Ludwig KU, Jagomägi T, Saag M, Herms S, Knapp M, Hoffmann P, Nöthen MM, Metspalu A, Mangold E (2010) Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. European Journal of Oral Sciences 118:317–319.
  1. Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ (2010) Leiden open variation database of the MUTYH Gene. Human Mutation 31:1205-1215.
  1. Pabst S, Karpushova A, Díaz-Lacava A, Herms S, Walier M, Zimmer S, Cichon S, Nickenig G, Nöthen MM, Wienker TF, Grohé C (2010) VEGF gene haplotypes are associated with sarcoidosis. Chest 137:156-163.
  1. Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F, Chiocchetti A, Ludwig KU, Hoffmann P, Paracchini S, Lowy E, Harold DH, Chapman JA, Klauck SM, Poustka F, Houben RH, Staal WG, Ophoff RA, O'Donovan MC, Williams J, Nöthen MM, Schulte-Körne G, Deloukas P, Ragoussis J, Bailey AJ, Maestrini E, Monaco AP, International Molecular Genetic Study of Autism Consortium (2010) Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry 68:320-328.
  1. Pechlivanis S, Scherag A, Mühleisen TW, Möhlenkamp S, Horsthemke B, Boes T, Bröcker-Preuss M, Mann K, Erbel R, Jöckel KH, Nöthen MM, Moebus S; Heinz Nixdorf Recall Study Group (2010) Arteriosclerosis, Thrombosis, and Vascular Biology 30:1867-1872.
  1. Perlis RH, Huang J, Purcell S, Fava M, Rush AJ, Sullivan PF, Hamilton SP, McMahon FJ, Schulze T, Potash JB, Zandi PP, Willour VL, Penninx BW, Boomsma DI, Vogelzangs N, Middeldorp CM, Rietschel M, Nöthen M, Cichon S, Gurling H, Bass N, McQuillin A, Hamshere M; Wellcome Trust Case Control Consortium Bipolar Disorder Group, Craddock N, Sklar P, Smoller JW (2010) Genome-wide association study of suicide attempts in mood disorder patients. American Journal of Psychiatry 167:1499-1507.
  1. Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, Rietschel M, Nöthen MM, Witt S, Maier W, Iosifescu DV, Sullivan P, Rush AJ, Fava M, Breiter H, Macdonald M, Gusella J (2010) Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. American Journal of Psychiatry 167:574-579.
  1. Rahner N, Steinke V, Schlegelberger B, Olschwang S, Eisinger F, Hutter P (2010) Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2). European Journal of Human Genetics Sep 18(9). doi: 10.1038/ejhg.2009.232. Epub 2010 Jan 27.
  1. Redler S*, Brockschmidt FF*, Forstbauer L, Giehl KA, Herold C, Eigelshoven S, Hanneken S, De Weert J, Lutz G, Wolff H, Kruse R, Blaumeiser B, Böhm M, Becker T, Nöthen MM, Betz RC (2010) The TRAF1/C5 locus confers risk for familial and severe alopecia areata. British Journal of Dermatology 162:866-869. *Authors contributed equally.
  1. Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh AM, Ludwig M (2010) Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. Birth Defects Research Part A: Clinical Molecular Teratology 88:757-761.
  1. Rietschel M, Mattheisen M, Frank J, Treutlein J, Degenhardt F, Breuer R, Steffens M, Mier D, Esslinger C, Walter H, Kirsch P, Erk S, Schnell K, Herms S, Wichmann HE, Schreiber S, Jöckel KH, Strohmaier J, Roeske D, Haenisch B, Gross M, Hoefels S, Lucae S, Binder EB, Wienker TF, Schulze TG, Schmäl C, Zimmer A, Juraeva D, Brors B, Bettecken T, Meyer-Lindenberg A, Müller-Myhsok B, Maier W, Nöthen MM, Cichon S (2010) Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression. Biological Psychiatry 68:578-585.
  1. Ripperger T, Beger C, Rahner N, Sykora KW, Bockmeyer CL, Lehmann U, Kreipe HH, Schlegelberger B (2010) Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation. Haematologica 95:841-844.
  1. Rojas-Martinez A*, Reutter H*, Chacon-Camacho O, Leon-Cachon RBR, Munoz-Jimenez SG, Nowak S, Becker J, Herberz R, Ludwig KU, Paredes-Zenteno M, Arizpe-Cantú A, Raeder S, Herms S, Ortiz-Lopez R, Knapp M, Hoffmann P, Nöthen MM, Mangold E (2010) Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Research Part A: Clinical and Molecular Teratology 88 (7): 535–537. *Authors contributed equally.
  1. Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han Y, Keskitalo-Vuokko K, Kong X, Landi MT, Ma JZ, Short SE, Stephens SH, Stevens VL, Sun L, Wang Y, Wenzlaff AS, Aggen SH, Breslau N, Broderick P, Chatterjee N, Chen J, Heath AC, Heliövaara M, Hoft NR, Hunter DJ, Jensen MK, Martin NG, Montgomery GW, Niu T, Payne TJ, Peltonen L, Pergadia ML, Rice JP, Sherva R, Spitz MR, Sun J, Wang JC, Weiss RB, Wheeler W, Witt SH, Yang BZ, Caporaso NE, Ehringer MA, Eisen T, Gapstur SM, Gelernter J, Houlston R, Kaprio J, Kendler KS, Kraft P, Leppert MF, Li MD, Madden PA, Nöthen MM, Pillai S, Rietschel M, Rujescu D, Schwartz A, Amos CI, Bierut LJ (2010) Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD. PLoS Genetics 6:e1001053.
  1. Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W (2010) Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. International Journal of Colorectal Disorders 25:97-107.
  1. Schardt DM, Erk S, Nüsser C, Nöthen MM, Cichon S, Rietschel M, Treutlein J, Goschke T, Walter H (2010) Volition diminishes genetically mediated amygdale hyperreactivity. Neuroimage 53:943-951.
  1. Scherag A, Dina C, Hinney A, Vatin V, Scherag S, Vogel CI, Müller TD, Grallert H, Wichmann HE, Balkau B, Heude B, Jarvelin MR, Hartikainen AL, Levy-Marchal C, Weill J, Delplanque J, Körner A, Kiess W, Kovacs P, Rayner NW, Prokopenko I, McCarthy MI, Schäfer H, Jarick I, Boeing H, Fisher E, Reinehr T, Heinrich J, Rzehak P, Berdel D, Borte M, Biebermann H, Krude H, Rosskopf D, Rimmbach C, Rief W, Fromme T, Klingenspor M, Schürmann A, Schulz N, Nöthen MM, Mühleisen TW, Erbel R, Jöckel KH, Moebus S, Boes T, Illig T, Froguel P, Hebebrand J, Meyre D (2010) Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genetics 22:e1000916.
  1. Schulze TG, Alda M, Adli M, Akula N, Ardau R, Bui ET, Chillotti C, Cichon S, Czerski P, Del Zompo M, Detera-Wadleigh SD, Grof P, Gruber O, Hashimoto R, Hauser J, Hoban R, Iwata N, Kassem L, Kato T, Kittel-Schneider S, Kliwicki S, Kelsoe JR, Kusumi I, Laje G, Leckband SG, Manchia M, Macqueen G, Masui T, Ozaki N, Perlis RH, Pfennig A, Piccardi P, Richardson S, Rouleau G, Reif A, Rybakowski JK, Sasse J, Schumacher J, Severino G, Smoller JW, Squassina A, Turecki G, Young LT, Yoshikawa T, Bauer M, McMahon FJ (2010) The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment. Neuropsychobiology 62:72-78.
  1. Schumacher J, Deckert J (2010) Serotonin transporter polymorphisms and panic disorder. Genome Medicine 2:40.
  1. Steffens M, Becker T, Sander T, Fimmers R, Herold C, Holler DA, Leu C, Herms S, Cichon S, Bohn B, Gerstner T, Griebel M, Nöthen MM, Wienker TF, Baur MP (2010) Feasible and successful: genome-wide interaction analysis involving all 1.9 x 10(11) pair-wise interaction tests. Human Heredity 69:268-284.
  1. Steinke V, Rahner N, Aretz S, Propping P (2010) Genetische Diagnostik erblicher Tumorerkrankungen. Wie zuverlässig ist die Diagnostik? FORUM 25:23-25.
  1. Strohmaier J, Frank J, Wendland JR, Schumacher J, Jamra RA, Treutlein J, Nieratschker V, Breuer R, Mattheisen M, Herms S, Muhleisen TW, Maier W, Nothen MM, Cichon S, Rietschel M, Schulze TG (2010) A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. Schizophrenia Research 118:98-105.
  1. Suliman H, Schumacher J, Becker T, Cichon S, Schulze TG, Propping P, Rietschel M, Nöthen MM, Abou Jamra R (2010) Association study of 20 genetic variants at the (D)-amino acid oxidase gene in schizophrenia. Psychiatric Genetics 20:82-83.
  1. Thimm M, Krug A, Kellermann T, Markov V, Krach S, Jansen A, Zerres K, Eggermann T, Stöcker T, Shah NJ, Nöthen MM, Rietschel M, Kircher T (2010) The effects of a DTNBP1 gene variant on attention networks: an fMRI study. Behavioral and Brain Functions 6:54.
  1. Thimm M, Krug A, Markov V, Krach S, Jansen A, Zerres K, Eggermann T, Stöcker T, Jon Shah N, Nöthen MM, Rietschel M, Kircher T (2010) The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval. Human Brain Mapping 31:203-209.
  1. Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A (2010) Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. American Journal of Medical Genetics 152A:2543-2549.
  1. Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Møller P, Myrhøj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Lubinski J, Järvinen H, Claes E, Heinimann K, Karagiannis JA, Lindblom A, Dove-Edwin I, Müller H (2010) Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9:109-115.
  1. Walker RM, Christoforou A, Thomson PA, McGhee KA, Maclean A, Mühleisen TW, Strohmaier J, Nieratschker V, Nöthen MM, Rietschel M, Cichon S, Morris SW, Jilani O, Stclair D, Blackwood DH, Muir WJ, Porteous DJ, Evans KL (2010) Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder. Neuroscience Letters 478:9-13.
  1. Wijers CHW, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA (2010) Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatric Surgery International 26: 1093-1099.
  1. Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Kraus C, Ekici AB, Reis A, Rauch A (2010) Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation 31:722-733.

 

Übersichtsarbeiten / Bücher / Kommentare

 

  1. Aretz S (2010) Erbliche Polyposis-Syndrome des Magendarmtraktes. Genetische Untersuchungen zur Aufklärung der Heterogenität adenomatöser Polyposis-Syndrome. Südwestdeutscher Verlag für Hochschulschriften, Saarbrücken.
  1. Aretz S (2010) The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes. Deutsches Ärzteblatt International 107:163-173. Review.
  1. Gockel HR*, Schumacher J*, Gockel I, Lang H, Haaf T**, Nöthen MM** (2010) Achalasia: will genetic studies provide insights? Human Genetics 128:353-364. *HR G and JS contributed equally, **TH and MMN (senior authors) contributed equally. Review.
  1. Nieratschker V, Nöthen MM, Rietschel M (2010) New genetic findings in schizophrenia: is there still room for the dopamine hypothesis of schizophrenia? Frontiers in Behavioral Neuroscience 4:23. Review.
  1. Nöthen MM, Nieratschker V, Cichon S, Rietschel M (2010) New findings in the genetics of major psychoses. Dialogues in Clinical Neuroscience 12:85-93. Review.
  1. Propping P (2010) Genetics – ethical implications of research, diagnostics and counseling. In: Helmchen H, Sartorius N (eds.) (2010) Ethics in psychiatry. Springer, Dordrecht 2010) 459-484.
  1. Schmiegel W, Pox C, Reinacher-Schick A, Adler G, Arnold D, Fleig W, Fölsch UR, Frühmorgen P, Graeven U, Heinemann V, Hohenberger W, Holstege A, Junginger T, Kopp I, Kühlbacher T, Porschen R, Propping P, Riemann JF, Rödel C, Sauer R, Sauerbruch T, Schmitt W, Schmoll HJ, Seufferlein T, Zeitz M, Selbmann HK; Federal Committee of Physicians and Health Insurers (2010) S3 guidelines for colorectal carcinoma: results of an evidence-based consensus conference on February 6/7, 2004 and June 8/9, 2007 (for the topics IV, VI and VII). Zeitschrift für Gastroenterologie 48:65-136. Review.
  1. Schröck E, Engels H, Rauch A, Riess O, Ropers H, Kohlhase J, Tonnies H, Reis A, Schulze B (2010) Indikationskriterien und Bewertung der Molekularen Karyotypisierung mittels Mikroarray-Analysen für die genetische Diagnostik konstitutioneller DNA-Veränderungen – Grundlagen zur Einführung der Abrechnung der Molekularen Karyotypisierung mittels Mikroarray-Analyse in den EBM und die GOÄ. Medizinische Genetik 22:20-25.
  1. Spanagel R, Bartsch D, Brors B, Dahmen N, Deussing J, Eils R, Ende G, Gallinat J, Gebicke-Haerter P, Heinz A, Kiefer F, Jäger W, Mann K, Matthäus F, Nöthen M, Rietschel M, Sartorius A, Schütz G, Sommer WH, Sprengel R, Walter H, Wichmann E, Wienker T, Wurst W, Zimmer A (2010) An integrated genome research network for studying the genetics of alcohol addiction. Addictional Biology 15:369-379. Review.
  1. Steinke V, Vogt S, Aretz S (2010) Klinik und Genetik des familiären Darmkrebses. Medizinische Genetik 2:265-281.

 

 

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