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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. Nat Genet 42(6):489-91.

Broyl A, Hose D, Lokhorst H, de Knegt Y, Peeters J, Jauch A, Bertsch U, Buijs A, Stevens-Kroef M, Beverloo HB, Vellenga E, Zweegman S, Kersten MJ, van der Holt B, El Jarari L, Mulligan G, Goldschmidt H, van Duin M, Sonneveld P, 2010. Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients. Blood.

Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, Hemminki K, Sutter C, Wappenschmidt B, Dick M, Arnold N, Bugert P, Niederacher D, Meindl A, Schmutzler RK, Bartram CC, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P, 2010. Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases. Hum Mutat 31(1):E1052-7.

Child CJ, Rappold GA, Blum WF, 2010. Short Stature Homeobox-containing (SHOX) gene deficiency: Genetics and growth response to growth hormone treatment in comparison with Turner syndrome.

Conter V, Bartram CR, Valsecchi MG, Schrauder A, Panzer-Grumayer R, Moricke A, Arico M, Zimmermann M, Mann G, De Rossi G, Stanulla M, Locatelli F, Basso G, Niggli F, Barisone E, Henze G, Ludwig WD, Haas OA, Cazzaniga G, Koehler R, Silvestri D, Bradtke J, Parasole R, Beier R, van Dongen JJ, Biondi A, Schrappe M, 2010. Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood 115(16):3206-14.

Dikow N, Junge C, Karch S, Hinderhofer K, Froster UG, Moog U, 2010. Alpha-Thalassämie-Retardierungs-Syndrom. Monatsschr Kinderheilkd:1-4.

Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G, 2010. Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet 18(5):527-32.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K, 2010. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42(11):1021-6.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schrock E, Tinschert S, Rappold G, Moog U, 2010. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet A 152A(11):2908-11.

Felcht M, Dikow N, Goebeler M, Stroebel P, Booken N, Vossmerbaumer U, Merx K, Henzler T, Marx A, Moog U, Goerdt S, Klemke CD, 2010. Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism. BMJ Case Rep 2010.

Fischer C, Runz H, 2010. Einfuehrung zum Schwerpunktthema Datenbanken Medizinische Genetik 22:209-212.

Fletcher O, Johnson N, dos Santos Silva I, Orr N, Ashworth A, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schurmann P, Waltes R, Bremer M, Dork T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Humphreys K, Liu J, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J, Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Ko YD, Hamann U, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Milne RL, Benitez J, Arias JI, Pita G, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, Garcia-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Broeks A, Schmidt MK, van Leeuwen FE, Van't Veer LJ, Margolin S, Lindblom A, Humphreys MK, Morrison J, Platte R, Easton DF, Peto J, 2010. Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev 19(9):2143-51.

Gaspar H, 2010. Etiology and genetic aspects of Mobius sequence. Ophthalmologe 107(8):704-7.

Goecke TW, Ekici AB, Niesler B, Loehberg CR, Hammer C, Rappold G, Schanze D, Straub V, Altmann HH, Strissel P, Strick R, Beckmann MW, Fasching PA, 2010. Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy. Acta Obstet Gynecol Scand 89(1):7-14.

Hammer C, Fasching PA, Loehberg CR, Rauh C, Ekici AB, Jud SM, Bani MR, Beckmann MW, Strick R, Niesler B, 2010. Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy. Pharmacogenomics 11(7):943-50.

Heilig CE, Loffler H, Mahlknecht U, Janssen JW, Ho AD, Jauch A, Kramer A, 2010. Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group. J Cell Mol Med 14(4):895-902.

Hemminki K, Muller-Myhsok B, Lichtner P, Engel C, Chen B, Burwinkel B, Forsti A, Sutter C, Wappenschmidt B, Hellebrand H, Illig T, Arnold N, Niederacher D, Dworniczak B, Deissler H, Kast K, Gadzicki D, Meitinger T, Wichmann HE, Kiechle M, Bartram CR, Schmutzler RK, Meindl A, 2010. Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients. Int J Cancer 126(12):2858-62.

Horn D, Kapeller J, Rivera-Brugues 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. Hum Mutat 31(11):E1851-60.

Hov JR, Keitel V, Laerdahl JK, Spomer L, Ellinghaus E, ElSharawy A, Melum E, Boberg KM, Manke T, Balschun T, Schramm C, Bergquist A, Weismuller T, Gotthardt D, Rust C, Henckaerts L, Onnie CM, Weersma RK, Sterneck M, Teufel A, Runz H, Stiehl A, Ponsioen CY, Wijmenga C, Vatn MH, Stokkers PC, Vermeire S, Mathew CG, Lie BA, Beuers U, Manns MP, Schreiber S, Schrumpf E, Haussinger D, Franke A, Karlsen TH, 2010. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One 5(8):e12403.

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismuller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns MP, Schrumpf E, Boberg KM, Schreiber S, 2010. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 138(3):1102-11.

Keller M, Evers C, Moog U, Kloor M, Tariverdian M, Dewald M, Jost R, 2010. Psychosoziale und familiäre Aspekte bei der genetischen Diagnostik von erblichem Darmkrebs. Heidelberger interdisziplinäre Sprechstunde für familiären Darmkrebs Forum(25):34-37.

Koster I, Jungwirth MS, Steinbeisser H, 2010. xGit2 and xRhoGAP 11A regulate convergent extension and tissue separation in Xenopus gastrulation. Dev Biol 344(1):26-35.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R, 2010. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 12(7):431-9.

Moog U, 2010a. Invited comment. Acta Psychiatr Scand 122(2):166.

Moog U, 2010b. Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment. Acta Psychiatr Scand 122(2):166.

Neben K, Jauch A, Bertsch U, Heiss C, Hielscher T, Seckinger A, Mors T, Muller NZ, Hillengass J, Raab MS, Ho AD, Hose D, Goldschmidt H, 2010. Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation. Haematologica 95(7):1150-7.

Niesler B, Kapeller J, Fell C, Atkinson W, Moller D, Fischer C, Whorwell P, Houghton LA, 2010. 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex. Eur J Gastroenterol Hepatol 22(7):856-61.

Opladen T, Moog U, Herm M, Schmidt-Mader B, Hoffmann GF, 2010. Die Multiple Epiphysäre Dysplasie als Differentialdiagnose zur L-Dopa-responsiven Dystonie. Neuropädiatrie in Klinik und Praxis (9):93-97.

Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Koehler R, Greaves M, Sheridan E, Gast A, Kinsey SE, Lightfoot T, Roman E, Taylor M, Pritchard-Jones K, Stanulla M, Schrappe M, Bartram CR, Houlston RS, Kumar R, Hemminki K, 2010. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood 115(9):1765-7.

Puskaric S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G, 2010. Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart. Hum Mol Genet 19(23):4625-33.

Quist SR, Franke I, Sutter C, Bartram CR, Gollnick HP, Leverkus M, 2010. Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation. J Am Acad Dermatol 62(1):159-61.

Rauschenberger K, Scholer K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kolker S, Schwarz H, Fischer C, Grziwa B, Runz H, Numann A, Shafqat N, Kavanagh KL, Hammerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J, 2010. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med 2(2):51-62.

Ritter E, Husain RA, Hinderhofer K, Prell T, Fricke HJ, Scholl S, Hochhaus A, La Rosee P, 2010. Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma. Ann Hematol.

Schulz A, Fischer C, Chang-Claude J, Beckmann L, 2010. Entropy-supported marker selection and Mantel statistics for haplotype sharing analysis. Genet Epidemiol 34(4):354-63.

Sherborne AL, Hosking FJ, Prasad RB, Kumar R, Koehler R, Vijayakrishnan J, Papaemmanuil E, Bartram CR, Stanulla M, Schrappe M, Gast A, Dobbins SE, Ma Y, Sheridan E, Taylor M, Kinsey SE, Lightfoot T, Roman E, Irving JA, Allan JM, Moorman AV, Harrison CJ, Tomlinson IP, Richards S, Zimmermann M, Szalai C, Semsei AF, Erdelyi DJ, Krajinovic M, Sinnett D, Healy J, Gonzalez Neira A, Kawamata N, Ogawa S, Koeffler HP, Hemminki K, Greaves M, Houlston RS, 2010. Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet 42(6):492-4.

Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Kramer A, Schwable J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Gohring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kuhlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C, Grez M, 2010. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16(2):198-204.

Stimpson KM, Song IY, Jauch A, Holtgreve-Grez H, Hayden KE, Bridger JM, Sullivan BA, 2010. Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes. PLoS Genet 6(8).

Strauss K, Goebel C, Runz H, Mobius W, Weiss S, Feussner I, Simons M, Schneider A, 2010. Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease. J Biol Chem 285(34):26279-88.

Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, D'Amato M, Schlehe B, Hemminki K, Sutter C, Ditsch N, Blackburn A, Hill LZ, Jerry DJ, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Engel C, Meindl A, Bartram CR, Mollenhauer J, Burwinkel B, 2010. Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Hum Mutat 31(1):60-6.

Vukicevic V, Jauch A, Dinger TC, Gebauer L, Hornich V, Bornstein SR, Ehrhart-Bornstein M, Muller AM, 2010. Genetic instability and diminished differentiation capacity in long-term cultured mouse neurosphere cells. Mech Ageing Dev 131(2):124-32.

Walstab J, Hammer C, Lasitschka F, Möller D, Connolly CN, Rappold G, Brüss M, Bönisch H, Niesler B, 2010. RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits. J Biol Chem 285(35):26956-65.

Walstab J, Rappold G, Niesler B, 2010. 5-HT(3) receptors: Role in disease and target of drugs. Pharmacol Ther.

Weinhold N, Moreaux J, Raab MS, Hose D, Hielscher T, Benner A, Meissner T, Ehrbrecht E, Brough M, Jauch A, Goldschmidt H, Klein B, Moos M, 2010. NPM1 is overexpressed in hyperdiploid multiple myeloma due to a gain of chromosome 5 but is not delocalized to the cytoplasm. Genes Chromosomes Cancer 49(4):333-41.

Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Fullekrug J, 2010. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis.

Yang R, Schlehe B, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Volkmann J, Varon R, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B, 2010. A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat 121(3):693-702.

Akagi T, Yin D, Kawamata N, Bartram CR, Hofmann WK, Song JH, Miller CW, den Boer ML, Koeffler HP (2009) Functional analysis of a novel DNA polymorphism of a tandem repeated sequence in the asparagine synthetase gene in acute lymphoblastic leukemia cells. Leuk Res 33:991-996

Bacon C, Endris V, Rappold G (2009) Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system. J Comp Neurol 513:224-236

Balint I, Szponar A, Jauch A, Kovacs G (2009) Trisomy 7 and 17 mark papillary renal cell tumours irrespectively of variation of the phenotype. J Clin Pathol 62:892-895

Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H (2009) Identification of cholesterol-regulating genes by targeted RNAi screening. Cell Metab 10:63-75

Berger CD, Marz M, Kitzing TM, Grosse R, Steinbeisser H (2009) Detection of activated Rho in fixed Xenopus tissue. Dev Dyn 238:1407-1411

Bermejo JL, Fischer C, Schulz A, Cremer N, Hein R, Beckmann L, Chang-Claude J, Hemminki K (2009) Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis. BMC Proc 3 Suppl 7:S10

Brandt DT, Xu J, Steinbeisser H, Grosse R (2009) Regulation of myocardin-related transcriptional coactivators through cofactor interactions in differentiation and cancer. Cell Cycle 8:2523-2527

Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, Hemminki K, Sutter C, Wappenschmidt B, Dick M, Arnold N, Bugert P, Niederacher D, Meindl A, Schmutzler RK, Bartram CR, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases. Hum Mutat 31:E1052-1057

Chen J, Wildhardt G, Zhong Z, Roeth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold GA (2009) Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain. J Med Genet

Dai L, Gast A, Horska A, Schrappe M, Bartram CR, Hemminki K, Kumar R, Bermejo JL (2009) A case-control study of childhood acute lymphoblastic leukaemia and polymorphisms in the TGF-beta and receptor genes. Pediatr Blood Cancer 52:819-823

Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G (2009) Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet

Ehrlich D, Bruder E, Thome M, Gutt C, von Knebel Doeberitz M, Niggli F, Perantoni A, Bode M, Koesters R (2009) Nuclear Accumulation of beta-Catenin Protein Indicates Frequent Activation of Wnt-Signaling in Chemically-Induced Rat Nephroblastomas. Pediatr Dev Pathol:1

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 17:1592-1599

Flaquer A, Fischer C, Wienker TF (2009) A new sex-specific genetic map of the human pseudoautosomal regions (PAR1 and PAR2). Hum Hered 68:192-200

Garcia-Cazorla A, Wolf NI, Serrano M, Moog U, Perez-Duenas B, Poo P, Pineda M, Campistol J, Hoffmann GF (2009) Mental retardation and inborn errors of metabolism. J Inherit Metab Dis 32:597-608

Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL, Humphreys MK, Dunning AM, et al. (2009) Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 18:1610-1616

Gilbert DF, Meinhof T, Pepperkok R, Runz H (2009) DetecTiff: a novel image analysis routine for high-content screening microscopy. J Biomol Screen 14:944-955

Grunig E, Weissmann S, Ehlken N, Fijalkowska A, Fischer C, Fourme T, Galie N, et al. (2009) Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation 119:1747-1757

Hakroush S, Moeller MJ, Theilig F, Kaissling B, Sijmonsma TP, Jugold M, Akeson AL, Traykova-Brauch M, Hosser H, Hahnel B, Grone HJ, Koesters R, Kriz W (2009) Effects of increased renal tubular vascular endothelial growth factor (VEGF) on fibrosis, cyst formation, and glomerular disease. Am J Pathol 175:1883-1895

Hammer C, Kapeller J, Endele M, Fischer C, Hebebrand J, Hinney A, Friedel S, Gratacos M, Estivill X, Fichter M, Fernandez-Aranda F, Ehrlich S, Rappold G, Niesler B (2009) Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. Pharmacogenet Genomics

Hartmaier RJ, Tchatchou S, Richter AS, Wang J, McGuire SE, Skaar TC, Rae JM, Hemminki K, Sutter C, Ditsch N, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Meindl A, Bartram CR, Burwinkel B, Oesterreich S (2009) Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. BMC Cancer 9:438

Heilig CE, Loffler H, Mahlknecht U, Janssen JW, Ho AD, Jauch A, Kramer A (2009) Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group. J Cell Mol Med

Hemminki K, Muller-Myhsok B, Lichtner P, Engel C, Chen B, Burwinkel B, Forsti A, Sutter C, Wappenschmidt B, Hellebrand H, Illig T, Arnold N, Niederacher D, Dworniczak B, Deissler H, Kast K, Gadzicki D, Meitinger T, Wichmann HE, Kiechle M, Bartram CR, Schmutzler RK, Meindl A (2009) Low risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients. Int J Cancer

Hose D, Moreaux J, Meissner T, Seckinger A, Goldschmidt H, Benner A, Mahtouk K, Hillengass J, Reme T, De Vos J, Hundemer M, Condomines M, Bertsch U, Rossi JF, Jauch A, Klein B, Mohler T (2009a) Induction of angiogenesis by normal and malignant plasma cells. Blood 114:128-143

Hose D, Reme T, Meissner T, Moreaux J, Seckinger A, Lewis J, Benes V, Benner A, Hundemer M, Hielscher T, Shaughnessy JD, Jr., Barlogie B, Neben K, Kramer A, Hillengass J, Bertsch U, Jauch A, De Vos J, Rossi JF, Mohler T, Blake J, Zimmermann J, Klein B, Goldschmidt H (2009b) Inhibition of aurora kinases for tailored risk-adapted treatment of multiple myeloma. Blood 113:4331-4340

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, et al. (2009) Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology

Kawamata N, Ogawa S, Seeger K, Kirschner-Schwabe R, Huynh T, Chen J, Megrabian N, Harbott J, Zimmermann M, Henze G, Schrappe M, Bartram CR, Koeffler HP (2009) Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia. Int J Oncol 34:1603-1612

Marx JA, Rohrborn AJ, Koelsch BU, Fischer C, Herrmann T, Pietsch T, Rajewsky MF, Kindler-Rohrborn A (2009) Ablation of T cell immunity differentially influences tumor risk in inbred BD rat strains. Cancer Immunol Immunother 58:1287-1295

Milne RL, Benitez J, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Arias JI, et al. (2009) Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 101:1012-1018

Moog U (2009a) Das Kind mit Adipositas und Entwicklungsverzögerung. Wann handelt es sich bei Adipositas um ein genetisches Syndrom? Pädiatrie hautnah 1:38-41

Moog U (2009b) Encephalocraniocutaneous lipomatosis. J Med Genet 46:721-729

Moog U (2009c) Invited comment. Acta Psychiatr Scand

Moog U, Hoffmann GF, Zschocke J (2009a) Geistige Behinderung infolge Stoffwechselkrankheit. Medgen 21:202-208

Moog U, Zschocke J, Grünewald S (2009b) Physical abnormalities in metabolic diseases. Springer Verlag, Berlin

Niesler B, Kapeller J, Fell C, Atkinson W, Moller D, Fischer C, Whorwell P, Houghton LA (2009) 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex. Eur J Gastroenterol Hepatol

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Megarbane A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A (2009) Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 73:962-969

Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Kohler R, Greaves MF, Sheridan E, Gast A, Kinsey SE, Lightfoot T, Roman E, Taylor GM, Pritchard-Jones K, Stanulla M, Schrappe M, Bartram CR, Houlston RS, Kumar R, Hemminki K (2009) Verification of the susceptibility loci on 7p12.2, 10q21.2 and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood

Remke M, Pfister S, Kox C, Toedt G, Becker N, Benner A, Werft W, Breit S, Liu S, Engel F, Wittmann A, Zimmermann M, Stanulla M, Schrappe M, Ludwig WD, Bartram CR, Radlwimmer B, Muckenthaler MU, Lichter P, Kulozik AE (2009) High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response. Blood 114:1053-1062

Schmidt J, Kirsch S, Rappold GA, Schempp W (2009) Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids. PLoS One 4:e5288

Schwarz AK, Stanulla M, Cario G, Flohr T, Sutton R, Moricke A, Anker P, Stroun M, Welte K, Bartram CR, Schrappe M, Schrauder A (2009) Quantification of free total plasma DNA and minimal residual disease detection in the plasma of children with acute lymphoblastic leukemia. Ann Hematol 88:897-905

Seckinger A, Meissner T, Moreaux J, Goldschmidt H, Fuhler GM, Benner A, Hundemer M, Reme T, Shaughnessy JD, Jr., Barlogie B, Bertsch U, Hillengass J, Ho AD, Pantesco V, Jauch A, De Vos J, Rossi JF, Mohler T, Klein B, Hose D (2009) Bone morphogenic protein 6: a member of a novel class of prognostic factors expressed by normal and malignant plasma cells inhibiting proliferation and angiogenesis. Oncogene 28:3866-3879

Shephard ND, Abo R, Rigas SH, Frank B, Lin WY, Brock IW, Shippen A, Balasubramanian SP, Reed MW, Bartram CR, Meindl A, Schmutzler RK, Engel C, Burwinkel B, Cannon-Albright LA, Allen-Brady K, Camp NJ, Cox A (2009) A breast cancer risk haplotype in the caspase-8 gene. Cancer Res 69:2724-2728

Sprynski AC, Hose D, Caillot L, Reme T, Shaughnessy JD, Jr., Barlogie B, Seckinger A, Moreaux J, Hundemer M, Jourdan M, Meissner T, Jauch A, Mahtouk K, Kassambara A, Bertsch U, Rossi JF, Goldschmidt H, Klein B (2009) The role of IGF-1 as a major growth factor for myeloma cell lines and the prognostic relevance of the expression of its receptor. Blood 113:4614-4626

Szponar A, Zubakov D, Pawlak J, Jauch A, Kovacs G (2009) Three genetic developmental stages of papillary renal cell tumors: duplication of chromosome 1q marks fatal progression. Int J Cancer 124:2071-2076

Tchatchou S, Jung A, Hemminki K, Sutter C, Wappenschmidt B, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Ditsch N, Meindl A, Schmutzler RK, Bartram CR, Burwinkel B (2009) A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women. Carcinogenesis 30:59-64

Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, et al. Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Hum Mutat 31:60-66

Thome MA, Ehrlich D, Koesters R, Muller-Stich B, Unglaub F, Hinz U, Buchler MW, Gutt CN (2009) The point of conversion in laparoscopic colonic surgery affects the oncologic outcome in an experimental rat model. Surg Endosc 23:1988-1994

Tuduri S, Crabbe L, Conti C, Tourriere H, Holtgreve-Grez H, Jauch A, Pantesco V, De Vos J, Thomas A, Theillet C, Pommier Y, Tazi J, Coquelle A, Pasero P (2009) Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription. Nat Cell Biol 11:1315-1324

Tyson C, Dawson AJ, Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Chudoba I, Morash B, Mhanni A, Chudley AE, McGillivray B, Parslow M, Rappold G, Roeth R, Fawcett C, Qiao Y, Harvard C, Rajcan-Separovic E (2009) Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability. Am J Med Genet A 149A:490-495

Wang Y, Steinbeisser H (2009) Molecular basis of morphogenesis during vertebrate gastrulation. Cell Mol Life Sci 66:2263-2273

Winzen B, Koelsch B, Fischer C, Kindler-Rohrborn A (2009) Genetic basis of sex-specific resistance to neuro-oncogenesis in (BDIX x BDIV) F(2) rats. Mamm Genome

Yang R, Chen B, Hemminki K, Wappenschmidt B, Engel C, Sutter C, Ditsch N, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B (2009a) Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk. Breast Cancer Res Treat 118:407-413

Yang R, Schlehe B, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Volkmann J, Varon R, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B (2009b) A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat

Yin D, Ogawa S, Kawamata N, Tunici P, Finocchiaro G, Eoli M, Ruckert C, Huynh T, Liu G, Kato M, Sanada M, Jauch A, Dugas M, Black KL, Koeffler HP (2009) High-resolution genomic copy number profiling of glioblastoma multiforme by single nucleotide polymorphism DNA microarray. Mol Cancer Res 7:665-677

Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF (2009) Molecular neonatal screening for homocystinuria in the Qatari population. Hum Mutat 30:1021-1022

Bochtler T, Hegenbart U, Cremer FW, Heiss C, Benner A, Hose D, Moos M, Bila J, Bartram CR, Ho AD, Goldschmidt H, Jauch A, Schonland SO (2008) Evaluation of the cytogenetic aberration pattern in amyloid light chain amyloidosis as compared with monoclonal gammopathy of undetermined significance reveals common pathways of karyotypic instability. Blood 111:4700-4705

Burmeister T, Schwartz S, Bartram CR, Gokbuget N, Hoelzer D, Thiel E (2008) Patients' age and BCR-ABL frequency in adult B-precursor ALL: a retrospective analysis from the GMALL study group. Blood 112:918-919

Cavaleri FM, Balbach ST, Gentile L, Jauch A, Bohm-Steuer B, Han YM, Scholer HR, Boiani M (2008) Subsets of cloned mouse embryos and their non-random relationship to development and nuclear reprogramming. Mech Dev 125:153-166

Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet 83:781-786

Fasching PA, Kollmannsberger B, Strissel PL, Niesler B, Engel J, Kreis H, Lux MP, Weihbrecht S, Lausen B, Bani MR, Beckmann MW, Strick R (2008) Polymorphisms in the novel serotonin receptor subunit gene HTR3C show different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy. J Cancer Res Clin Oncol 134(10):1079-86.

Flaquer A, Rappold GA, Wienker TF, Fischer C (2008) The human pseudoautosomal regions: a review for genetic epidemiologists. Eur J Hum Genet 16(7):771-9.

Flohr T, Schrauder A, Cazzaniga G, Panzer-Grumayer R, van der Velden V, Fischer S, Stanulla M, Basso G, Niggli FK, Schafer BW, Sutton R, Koehler R, Zimmermann M, Valsecchi MG, Gadner H, Masera G, Schrappe M, van Dongen JJ, Biondi A, Bartram CR (2008) Minimal residual disease-directed risk stratification using real-time quantitative PCR analysis of immunoglobulin and T-cell receptor gene rearrangements in the international multicenter trial AIEOP-BFM ALL 2000 for childhood acute lymphoblastic leukemia. Leukemia 22:771-782

Frank B, Rigas SH, Bermejo JL, Wiestler M, Wagner K, Hemminki K, Reed MW, et al. (2008a) The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study. Breast Cancer Res Treat 111:139-144

Frank B, Wiestler M, Kropp S, Hemminki K, Spurdle AB, Sutter C, Wappenschmidt B, et al. (2008b) Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. J Natl Cancer Inst 100:437-442

Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 16:1029-1037

Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 2008;16:1029-1037.

Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Ruschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P (2008) A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology 48:1157-1166

Hess K, Steinbeisser H, Kurth T, Epperlein HH (2008) Bone morphogenetic protein-4 and Noggin signaling regulates pigment cell distribution in the axolotl trunk. Differentiation 76:206-218

Hillengass J, Zechmann CM, Nadler A, Hose D, Cremer FW, Jauch A, Heiss C, Benner A, Ho AD, Bartram CR, Kauczor HU, Delorme S, Goldschmidt H, Moehler TM (2008) Gain of 1q21 and distinct adverse cytogenetic abnormalities correlate with increased microcirculation in multiple myeloma. Int J Cancer 122:2871-2875

Kapeller J, Houghton LA, Monnikes H, Walstab J, Moller D, Bonisch H, Burwinkel B, Autschbach F, Funke B, Lasitschka F, Gassler N, Fischer C, Whorwell PJ, Atkinson W, Fell C, Buchner KJ, Schmidtmann M, van der Voort I, Wisser AS, Berg T, Rappold G, Niesler B (2008) First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome. Hum Mol Genet 17:2967-2977

Kawamata N, Ogawa S, Zimmermann M, Kato M, Sanada M, Hemminki K, Yamatomo G, Nannya Y, Koehler R, Flohr T, Miller CW, Harbott J, Ludwig WD, Stanulla M, Schrappe M, Bartram CR, Koeffler HP (2008a) Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Blood 111:776-784

Kawamata N, Ogawa S, Zimmermann M, Niebuhr B, Stocking C, Sanada M, Hemminki K, Yamatomo G, Nannya Y, Koehler R, Flohr T, Miller CW, Harbott J, Ludwig WD, Stanulla M, Schrappe M, Bartram CR, Koeffler HP (2008b) Cloning of genes involved in chromosomal translocations by high-resolution single nucleotide polymorphism genomic microarray. Proc Natl Acad Sci U S A 105:11921-11926

Kentgens AP, Bart J, van Bentum PJ, Brinkmann A, van Eck ER, Gardeniers JG, Janssen JW, Knijn P, Vasa S, Verkuijlen MH (2008) High-resolution liquid- and solid-state nuclear magnetic resonance of nanoliter sample volumes using microcoil detectors. J Chem Phys 128:052202

Moog U, de Die-Smulders C, Martens H, Schrander-Stumpel C, Spaapen L. To test or not to test? Metabolic testing in adolescent and adult persons with intellectual disability. Journal of Policy and Practice in Intellectual Disability 2008;5:167-173.


Moog U. It's in a chart! Handbook of Physical Measurements - Second Edition. Eur J Hum Genet 2008;16:401.


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Niesler B, Kapeller J, Hammer C, Rappold G (2008) Serotonin type 3 receptor genes: HTR3A, B, C, D, E. Pharmacogenomics 9:501-504

Reinmuth N, Jauch A, Xu EC, Muley T, Granzow M, Hoffmann H, Dienemann H, Herpel E, Schnabel PA, Herth FJ, Gottschling S, Lahm H, Steins M, Thomas M, Meister M (2008) Correlation of EGFR mutations with chromosomal alterations and expression of EGFR, ErbB3 and VEGF in tumor samples of lung adenocarcinoma patients. Lung Cancer 62:193-201.

Ripatti S, Becker T, Bickeboller H, Dominicus A, Fischer C, Humphreys K, Jonasdottir G, Moreau Y, Olsson M, Ploner A, Sheehan N, Van Steen K, Baur M, van Duijn C, Palmgren J (2008) GENESTAT: an information portal for design and analysis of genetic association studies. Eur J Hum Genet doi:10.1038/ejhg.2008.216.

Runz H, Dolle D, Schlitter AM, Zschocke J (2008) NPC-db, a Niemann-Pick type C disease gene variation database. Hum Mutat 29:345-350

Steinbeisser H, Swain RK (2008) Wnt-frizzled interactions in Xenopus. Methods Mol Biol 469:451-463

Steinemann D, Cario G, Stanulla M, Karawajew L, Tauscher M, Weigmann A, Gohring G, Ludwig WD, Harbott J, Radlwimmer B, Bartram C, Lichter P, Schrappe M, Schlegelberger B (2008) Copy number alterations in childhood acute lymphoblastic leukemia and their association with minimal residual disease. Genes Chromosomes Cancer 47:471-480

Stiefelhagen M, Sellner L, Kleinschmidt JA, Jauch A, Laufs S, Wenz F, Zeller WJ, Fruehauf S, Veldwijk MR (2008) Application of a haematopoetic progenitor cell-targeted adeno-associated viral (AAV) vector established by selection of an AAV random peptide library on a leukaemia cell line. Genet Vaccines Ther 6:12

Stuhrmann M, Brakensiek K, Argyriou L, Boehm I, Hinderhofer K, Bauer I, Rhode BM, Maelzer M, Zuehlke C, Krueger G, Schmidtke J (2008) Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases. Eur J Hum Genet PMID: 19050729.

Szponar A, Zubakov D, Pawlak J, Jauch A, Kovacs G (2008) Three genetic developmental stages of papillary renal cell tumors: Duplication of chromosome 1q marks fatal progression. Int J Cancer PMID: 19123481.

Thome MA, Ehrlich D, Koesters R, Muller-Stich B, Unglaub F, Hinz U, Buchler MW, Gutt CN (2008) The point of conversion in laparoscopic colonic surgery affects the oncologic outcome in an experimental rat model. Surg Endosc PMID: 18528621.

Traykova-Brauch M, Schonig K, Greiner O, Miloud T, Jauch A, Bode M, Felsher DW, Glick AB, Kwiatkowski DJ, Bujard H, Horst J, von Knebel Doeberitz M, Niggli FK, Kriz W, Grone HJ, Koesters R (2008) An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med 14:979-984

Veldwijk MR, Berlinghoff S, Jauch A, Laufs S, Zeller WJ, Wenz F, Fruehauf S (2008) Characterization of human mesothelioma cell lines as tumor models for suicide gene therapy. Onkologie 31:91-96

Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA. Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. Int J Dermatol. 2008;47 (Suppl 1):52-55.

Walstab J, Hammer C, Bonisch H, Rappold G, Niesler B (2008) Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors. Pharmacogenet Genomics 18:793-802

Wang Y, Janicki P, Koster I, Berger CD, Wenzl C, Grosshans J, Steinbeisser H (2008) Xenopus Paraxial Protocadherin regulates morphogenesis by antagonizing Sprouty. Genes Dev 22:878-883

Yang R, Frank B, Hemminki K, Bartram CR, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Arnold N, Weber BH, Niederacher D, Meindl A, Burwinkel B (2008) SNPs in ultraconserved elements and familial breast cancer risk. Carcinogenesis 29:351-355

Balbach ST, Jauch A, Bohm-Steuer B, Cavaleri FM, Han YM, Boiani M (2007) Chromosome stability differs in cloned mouse embryos and derivative ES cells. Dev Biol 308:309-321

Bernardo ME, Emons JA, Karperien M, Nauta AJ, Willemze R, Roelofs H, Romeo S, Marchini A, Rappold GA, Vukicevic S, Locatelli F, Fibbe WE (2007) Human mesenchymal stem cells derived from bone marrow display a better chondrogenic differentiation compared with other sources. Connect Tissue Res 48:132-140

Bickeböller H, Fischer C (2007) Einführung in die Genetische Epidemiologie. Springer-Verlag, Berlin Heidelberg

Birk Moller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Guttler F, Tyfield L, Zschocke J (2007) Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat 28:207

Blaschke RJ, Hahurij ND, Kuijper S, Just S, Wisse LJ, Deissler K, Maxelon T, Anastassiadis K, Spitzer J, Hardt SE, Scholer H, Feitsma H, Rottbauer W, Blum M, Meijlink F, Rappold G, Gittenberger-de Groot AC (2007) Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development. Circulation 115:1830-1838

Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G (2007) Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 92:219-228

Brecht M, Steenvoorden AC, Luf S, Bartram CR, Janssen JW (2007) Rearrangement and expression of myeov and hst in NIH/3T3 transfectants: A caveat for the interpretation of DNA transfection analyses. Oncol Rep 17:1127-1131

Burnworth B, Arendt S, Muffler S, Steinkraus V, Brocker EB, Birek C, Hartschuh W, Jauch A, Boukamp P (2007) The multi-step process of human skin carcinogenesis: a role for p53, cyclin D1, hTERT, p16, and TSP-1. Eur J Cell Biol 86:763-780

Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J (2007) Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci U S A 104:2205-2210

Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ (2007) A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. Eur J Hum Genet

Dikow N, Nygren AO, Schouten JP, Hartmann C, Kramer N, Janssen B, Zschocke J (2007) Quantification of the methylation status of the PWS/AS imprinted region: Comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA. Mol Cell Probes 21:208-215

Fischer C, Kindler-Röhrborn A (2007) Geschlechtsspezifische genetische Ursachen komplexer Krankheiten. In: Freyer G, Biebler KE (eds) Biometrie und Medizinische Informatik Greifwalder Seminarberichte. Vol 13. Shaker Verlag, Greifswald

Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M (2007) Abnormal sterol metabolism in holoprosencephaly: Studies in cultured lymphoblasts. J Med Genet

Hensel M, Zoz M, Giesecke C, Benner A, Neben K, Jauch A, Stilgenbauer S, Ho AD, Kramer A (2007) High rate of centrosome aberrations and correlation with proliferative activity in patients with untreated B-cell chronic lymphocytic leukemia. Int J Cancer 121:978-983

Hess K, Steinbeisser H, Kurth T, Epperlein HH (2007) Bone morphogenetic protein-4 and Noggin signaling regulates pigment cell distribution in the axolotl trunk. Differentiation

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J (2007) Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 30:96-99

Hundemer M, Klein U, Hose D, Raab MS, Cremer FW, Jauch A, Benner A, Heiss C, Moos M, Ho AD, Goldschmidt H (2007) Lack of CD56 expression on myeloma cells is not a marker for poor prognosis in patients treated by high-dose chemotherapy and is associated with translocation t(11;14). Bone Marrow Transplant 40:1033-1037

Kashkevich K, Humeny A, Ziegler U, Groschup MH, Nicken P, Leeb T, Fischer C, Becker CM, Schiebel K (2007) Functional relevance of DNA polymorphisms within the promoter region of the prion protein gene and their association to BSE infection. Faseb J 21:1547-1555

Marchini A, Hacker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G (2007) BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet 16:3081-3087

Marchini A, Rappold G, Schneider KU (2007) SHOX at a glance: from gene to protein. Arch Physiol Biochem 113:116-123

Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 143A:2963-2972

Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE (2007) Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A 143A:2973-2980

Moog U, van Mierlo I, van Schrojenstein Lantman-de Valk HM, Spaapen L, Maaskant MA, Curfs LM (2007) Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 145:293-301

Niesler B, Roth R, Wilke S, Fujimura F, Fischer C, Rappold G (2007) The novel human SHOX allelic variant database. Hum Mutat 28:933-938

Niesler B, Walstab J, Combrink S, Moeller D, Kapeller J, Rietdorf J, Boenisch H, Goethert M, Rappold G, Bruess M (2007) Characterization of the Novel Human Serotonin Receptor Subunits 5-HT3C, 5- HT3D and 5-HT3E. Mol Pharmacol

Propping P, Bartram CR (2007) Friedrich vogel 1925-2006. Hum Genet 120:751-753

Rappold G (2007) My last visit with Friedrich Vogel: a personal remembrance. Hum Genet 120:749-750

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B (2007) Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 44:306-313

Riedl E, Koeppel H, Brinkkoetter P, Sternik P, Steinbeisser H, Sauerhoefer S, Janssen B, van der Woude F, Yard B (2007) A CTG Polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells. Diabetes

Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 16:210-222

Tchatchou S, Wirtenberger M, Hemminki K, Sutter C, Meindl A, Wappenschmidt B, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B (2007) Aurora kinases A and B and familial breast cancer risk. Cancer Lett 247:266-272

Vaclavicek A, Bermejo JL, Wappenschmidt B, Meindl A, Sutter C, Schmutzler RK, Kiechle M, Bugert P, Burwinkel B, Bartram CR, Hemminki K, Forsti A (2007) Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. Breast Cancer Res Treat

van der Velden VH, Panzer-Grumayer ER, Cazzaniga G, Flohr T, Sutton R, Schrauder A, Basso G, Schrappe M, Wijkhuijs JM, Konrad M, Bartram CR, Masera G, Biondi A, van Dongen JJ (2007) Optimization of PCR-based minimal residual disease diagnostics for childhood acute lymphoblastic leukemia in a multi-center setting. Leukemia 21:706-713

Vincan E, Swain RK, Brabletz T, Steinbeisser H (2007) Frizzled7 dictates embryonic morphogenesis: implications for colorectal cancer progression. Front Biosci 12:4558-4567

Walstab J, Combrink S, Bruss M, Gothert M, Niesler B, Bonisch H (2007) Aequorin luminescence-based assay for 5-hydroxytryptamine (serotonin) type 3 receptor characterization. Anal Biochem 368:185-192

Weber RG, Hoischen A, Ehrler M, Zipper P, Kaulich K, Blaschke B, Becker AJ, Weber-Mangal S, Jauch A, Radlwimmer B, Schramm J, Wiestler OD, Lichter P, Reifenberger G (2007) Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Oncogene 26:1088-1097

Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2007) The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer. Carcinogenesis 28:423-426

Akagi T, Yin D, Kawamata N, Bartram CR, Hofmann WK, Wolf I, Miller CW, Koeffler HP (2006) Methylation analysis of asparagine synthetase gene in acute lymphoblastic leukemia cells. Leukemia 20:1303-1306

Blaschke RJ, Rappold G (2006) The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev 16:233-239

Brown G, Fraser C, Schofield G, Taylor S, Bartram C, Phillips R, Saunders B (2006) Video capsule endoscopy in peutz-jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps. Endoscopy 38:385-390

Bruggemann M, Raff T, Flohr T, Gokbuget N, Nakao M, Droese J, Luschen S, Pott C, Ritgen M, Scheuring U, Horst HA, Thiel E, Hoelzer D, Bartram CR, Kneba M (2006) Clinical significance of minimal residual disease quantification in adult patients with standard-risk acute lymphoblastic leukemia. Blood 107:1116-1123

Burling D, Halligan S, Altman DG, Atkin W, Bartram C, Fenlon H, Laghi A, et al. (2006) CT colonography interpretation times: effect of reader experience, fatigue, and scan findings in a multi-centre setting. Eur Radiol 16:1745-1749

Burling D, Halligan S, Altman DG, Atkin W, Bartram C, Fenlon H, Laghi A, et al. (2006) Polyp measurement and size categorisation by CT colonography: effect of observer experience in a multi-centre setting. Eur Radiol 16:1737-1744

Burling D, Halligan S, Taylor S, Brennand DJ, Altman DG, Bassett P, Atkin W, Bartram CI (2006) Polyp measurement using CT colonography: agreement with colonoscopy and effect of viewing conditions on interobserver and intraobserver agreement. AJR Am J Roentgenol 186:1597-1604

Burling D, Taylor SA, Halligan S, Gartner L, Paliwalla M, Peiris C, Singh L, Bassett P, Bartram C (2006) Automated insufflation of carbon dioxide for MDCT colonography: distension and patient experience compared with manual insufflation. AJR Am J Roentgenol 186:96-103

Burwinkel B, Shanmugam KS, Hemminki K, Meindl A, Schmutzler RK, Sutter C, Wappenschmidt B, Kiechle M, Bartram CR, Frank B (2006) Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study. BMC Cancer 6:268

Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA (2006) Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J Inherit Metab Dis 29:162-172

Chalmers RA, Bain MD, Zschocke J (2006) Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. Mol Genet Metab 88:29-37

de Almeida RA, Heuser T, Blaschke R, Bartram CR, Janssen JW (2006) Control of MYEOV protein synthesis by upstream open reading frames. J Biol Chem 281:695-704

El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J (2006) A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat 27:719

Finsterer J, Stollberger C, Gaismayer K, Janssen B (2006) Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol 106:420-421

Fischer C, Gross W, Kruger J, Cremer M, Vogel F, Grimm T (2006) Modelling germline mosaicism and different new mutation rates simultaneously for appropriate risk calculations in families with Duchenne muscular dystrophy. Ann Hum Genet 70:237-248

Fischer C, Kruger J, Gross W (2006) RISCALW: a Windows program for risk calculation in families with Duchenne muscular dystrophy. Ann Hum Genet 70:249-253

Frank B, Hemminki K, Meindl A, Wappenschmidt B, Klaes R, Schmutzler RK, Untch M, Bugert P, Bartram CR, Burwinkel B (2006) Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk. Int J Cancer 118:2505-2508

Frank B, Hemminki K, Wappenschmidt B, Klaes R, Meindl A, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B (2006) Variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer. Int J Cancer 118:2917-2918

Frank B, Hemminki K, Wappenschmidt B, Meindl A, Klaes R, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B (2006) Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant. Carcinogenesis 27:606-609

Goh V, Halligan S, Gartner L, Bassett P, Bartram CI (2006) Quantitative colorectal cancer perfusion measurement by multidetector-row CT: does greater tumour coverage improve measurement reproducibility? Br J Radiol 79:578-583

Goh V, Halligan S, Hugill JA, Bartram CI (2006) Quantitative assessment of tissue perfusion using MDCT: comparison of colorectal cancer and skeletal muscle measurement reproducibility. AJR Am J Roentgenol 187:164-169

Hansson MG, Dillner J, Bartram CR, Carlson JA, Helgesson G (2006) Should donors be allowed to give broad consent to future biobank research? Lancet Oncol 7:266-269

Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B, Klaes R (2006) Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma. Am J Med Genet A 140:1658-1662

Koelsch BU, Fischer C, Neibecker M, Schmitt N, Schmidt O, Rajewsky MF, Kindler-Rohrborn A (2006) Gender-specific polygenic control of ethylnitrosourea-induced oncogenesis in the rat peripheral nervous system. Int J Cancer 118:108-114

Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, et al. (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840-847

Kuerner KM, Steinbeisser H (2006) Expression analysis of IGFBP-rP10, IGFBP-like and Mig30 in early Xenopus development. Dev Dyn 235:2861-2867

Lou X, Fang P, Li S, Hu RY, Kuerner KM, Steinbeisser H, Ding X (2006) Xenopus Tbx6 mediates posterior patterning via activation of Wnt and FGF signalling. Cell Res 16:771-779

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, et al. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat 27:121-132

Machado RD, Koehler R, Glissmeyer E, Veal C, Suntharalingam J, Kim M, Carlquist J, Town M, Elliott CG, Hoeper M, Fijalkowska A, Kurzyna M, Thomson JR, Gibbs SR, Wilkins MR, Seeger W, Morrell NW, Gruenig E, Trembath RC, Janssen B (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. Am J Respir Crit Care Med 173:793-797

Mack M, Liesert M, Zschocke J, Peters V, Linder D, Buckel W (2006) 3-Methylglutaconyl-CoA hydratase from Acinetobacter sp. Arch Microbiol 185:297-306

Mack M, Schniegler-Mattox U, Peters V, Hoffmann GF, Liesert M, Buckel W, Zschocke J (2006) Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Febs J 273:2012-2022

Marchini A, Daeffler L, Marttila T, Schneider KU, Blaschke RJ, Schnolzer M, Rommelaere J, Rappold G (2006) Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J Mol Biol 355:590-603

Runz H, Miura K, Weiss M, Pepperkok R (2006) Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G. Embo J 25:2953-2965

Shulver H, Bartram CI, Hudson CN (2006) A method of dissecting the pelvic floor to allow anatomical validation of images of the soft tissues. Clin Anat

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Taylor SA, Halligan S, Slater A, Marshall M, Bartram CI (2006) Comparison of radiologists' confidence in excluding significant colorectal neoplasia with multidetector-row CT colonography compared with double contrast barium enema. Br J Radiol 79:208-215

Tchatchou S, Wirtenberger M, Hemminki K, Sutter C, Meindl A, Wappenschmidt B, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B (2006) Aurora kinases A and B and familial breast cancer risk. Cancer Lett

Tiecke E, Bangs F, Blaschke R, Farrell ER, Rappold G, Tickle C (2006) Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements. Dev Biol 298:585-596

Tsukasaki K, Lohr D, Sugahara K, Kamihira S, Tomonaga M, Bartram CR, Jauch A (2006) Comparative genomic hybridization analysis of Japanese B-cell chronic lymphocytic leukemia: correlation with clinical course. Leuk Lymphoma 47:261-266

Vaclavicek A, Hemminki K, Bartram CR, Wagner K, Wappenschmidt B, Meindl A, Schmutzler RK, Klaes R, Untch M, Burwinkel B, Forsti A (2006) Association of prolactin and its receptor gene regions with familial breast cancer. J Clin Endocrinol Metab 91:1513-1519

Weber RG, Hoischen A, Ehrler M, Zipper P, Kaulich K, Blaschke B, Becker AJ, Weber-Mangal S, Jauch A, Radlwimmer B, Schramm J, Wiestler OD, Lichter P, Reifenberger G (2006) Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Oncogene

Wilkening S, Bermejo JL, Burwinkel B, Klaes R, Bartram CR, Meindl A, Bugert P, Schmutzler RK, Wappenschmidt B, Untch M, Hemminki K, Forsti A (2006) The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer. Cancer Res 66:646-648

Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. Carcinogenesis 27:1655-1660

Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) The functional genetic variant Ile646Val located in the kinase binding domain of the A kinase anchoring protein 10 is associated with familial breast cancer. Carcinogenesis

Wirtenberger M, Tchatchou S, Hemminki K, Klaes R, Schmutzler RK, Bermejo JL, Chen B, Wappenschmidt B, Meindl A, Bartram CR, Burwinkel B (2006) Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer. Carcinogenesis 27:593-598

Wirtenberger M, Tchatchou S, Hemminki K, Schmutzhard J, Sutter C, Schmutzler RK, Meindl A, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. Carcinogenesis 27:2201-2208

Yang Y, Marcello M, Endris V, Saffrich R, Fischer R, Trendelenburg MF, Sprengel R, Rappold G (2006) MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation. Exp Cell Res 312:2379-2393

Yang Y, Takeuchi S, Hofmann WK, Ikezoe T, van Dongen JJ, Szczepanski T, Bartram CR, Yoshino N, Taguchi H, Koeffler HP (2006) Aberrant methylation in promoter-associated CpG islands of multiple genes in acute lymphoblastic leukemia. Leuk Res 30:98-102

Zschocke J, Nebel A, Wicks K, Peters V, El Mokhtari NE, Krawczak M, van der Woude F, Janssen B, Schreiber S (2006) Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease. Mech Ageing Dev 127:817-820

Balbus N, Humeny A, Kashkevich K, Henz I, Fischer C, Becker CM, Schiebel K. 2005. DNA polymorphisms of the prion doppel gene region in four different German cattle breeds and cows tested positive for bovine spongiform encephalopathy. Mamm Genome 16(11):884-92.

Beckmann L, Thomas DC, Fischer C, Chang-Claude J. 2005. Haplotype sharing analysis using mantel statistics. Hum Hered 59(2):67-78

Brecht M, Steenvoorden AC, Collard JG, Luf S, Erz D, Bartram CR, Janssen JW. 2005. Activation of gef-h1, a guanine nucleotide exchange factor for RhoA, by DNA transfection. Int J Cancer 113(4):533-40.

Burwinkel B, Wirtenberger M, Klaes R, Schmutzler RK, Grzybowska E, Forsti A, Frank B, Bermejo JL, Bugert P, Wappenschmidt B and others. 2005. Association of NCOA3 polymorphisms with breast cancer risk. Clin Cancer Res 11(6):2169-74.

Cario G, Stanulla M, Fine BM, Teuffel O, Neuhoff NV, Schrauder A, Flohr T, Schafer BW, Bartram CR, Welte K and others. 2005. Distinct gene expression profiles determine molecular treatment response in childhood acute lymphoblastic leukemia. Blood 105(2):821-6.

Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA. 2005. Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J Inherit Metab Dis. (in press)

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Cremer FW, Kartal M, Hose D, Bila J, Buck I, Bellos F, Raab MS, Brough M, Moebus A, Hager HD and others. 2005. High incidence and intraclonal heterogeneity of chromosome 11 aberrations in patients with newly diagnosed multiple myeloma detected by multiprobe interphase FISH. Cancer Genet Cytogenet 161(2):116-24.

D'Haese JG, Tsukasaki K, Cremer FW, Fischer C, Bartram CR, Jauch A. 2005. Chromosomal aberrations in follicular non-Hodgkin lymphomas of Japanese patients, detected with comparative genomic hybridization and polymerase chain reaction analysis. Cancer Genet Cytogenet 162(2):107-14.

Frank B, Hemminki K, Klaes R, Meindl A, Schmutzler RK, Wappenschmidt B, Untch M, Bugert P, Bartram CR, Burwinkel B. 2005. Polymorphic ARLTS1 variants and familial breast cancer risk. Int J Cancer. (in press)

Frank B, Hemminki K, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Bugert P, Untch M, Bartram CR, Burwinkel B and others. 2005. Association of the CASP10 V410I variant with familial breast cancer risk and interaction with the CASP8 D 302H variant. Carcinogenesis. (in press)

Frank B, Hemminki K, Shanmugam KS, Meindl A, Klaes R, Schmutzler RK, Wappenschmidt B, Untch M, Bugert P, Bartram CR and others. 2005. Association of death receptor 4 haplotype 626C-683C with an increased breast cancer risk. Carcinogenesis 26(11):1975-7.

Frank B, Hemminki K, Wirtenberger M, Bermejo JL, Bugert P, Klaes R, Schmutzler RK, Wappenschmidt B, Bartram CR, Burwinkel B. 2005. The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk. Carcinogenesis 26(3):643-7.

Frank B, Wappenschmidt B, Klaes R, Meindl A, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B. 2005. A variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer. Letter. Int J Cancer. (in press)

Gleissner B, Goekbuget N, Rieder H, Arnold R, Schwartz S, Diedrich H, Schoch C, Heinze B, Fonatsch C, Bartram CR and others. 2005. CD10- pre-B acute lymphoblastic leukemia (ALL) is a distinct high-risk subgroup of adult ALL associated with a high frequency of MLL aberrations: results of the German Multicenter Trials for Adult ALL (GMALL). Blood 106(13):4054-6.

Gotte K, Tremmel SC, Popp S, Weber S, Hormann K, Bartram CR, Jauch A. 2005. Intratumoral genomic heterogeneity in advanced head and neck cancer detected by comparative genomic hybridization. Adv Otorhinolaryngol 62:38-48.

Grigorescu-Sido A, Heinrich U, Grigorescu-Sido P, Jauch A, Hager HD, Vogt PH, Duncea I, Bettendorf M. 2005. Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. J Pediatr Endocrinol Metab 18(2):197-203.

Guo J, Jauch A, Holtgreve-Grez H, Schoell B, Erz D, Schrank M, Janssen JW. 2005. Multicolor karyotype analyses of mouse embryonic stem cells. In Vitro Cellular & Developmental Biology - Animal. (in press)

Haas D, Armbrust S, Haas JP, Zschocke J, Mühlmann K, Fusch C, Neumann LM. 2005. Smith–Lemli–Opitz syndrome with a classical phenotype, esophageal achalasia and borderline sterol plasma levels. J Inherit Metab Dis. (in press)

Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. 2005. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6(1):29-35.

Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E and others. 2005. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes 54(8):2320-7.

Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dotsch J, Rascher W. 2005. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. BMC Pediatr 5(1):5.

Kulkens S, Harting I, Sauer S, Zschocke J, Hoffmann GF, Gruber S, Bodamer OA, Kolker S. 2005. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64(12):2142-4.

Kurth T, Meissner S, Schackel S, Steinbeisser H. 2005. Establishment of mesodermal gene expression patterns in early Xenopus embryos: the role of repression. Dev Dyn 233(2):418-29.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W and others. 2005. Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation. (in press)

Mahtouk K, Hose D, Reme T, De Vos J, Jourdan M, Moreaux J, Fiol G, Raab M, Jourdan E, Grau V and others. 2005. Expression of EGF-family receptors and amphiregulin in multiple myeloma. Amphiregulin is a growth factor for myeloma cells. Oncogene 24(21):3512-24.

Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF and others. 2005. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet 14(8):1077-86.

Moreaux J, Cremer FW, Reme T, Raab M, Mahtouk K, Kaukel P, Pantesco V, De Vos J, Jourdan E, Jauch A and others. 2005. The level of TACI gene expression in myeloma cells is associated with a signature of microenvironment dependence versus a plasmablastic signature. Blood 106(3):1021-30.

Obreiter M, Fischer C, Chang-Claude J, Beckmann L. 2005. SDMinP: a program to control the family wise error rate using step-down minP adjusted P-values. Bioinformatics 21(14):3183-4.

Radujkovic A, Schad M, Topaly J, Veldwijk MR, Laufs S, Schultheis BS, Jauch A, Melo JV, Fruehauf S, Zeller WJ. 2005. Synergistic activity of imatinib and 17-AAG in imatinib-resistant CML cells overexpressing BCR-ABL--Inhibition of P-glycoprotein function by 17-AAG. Leukemia 19(7):1198-206.

Schaaf CP, Benzing J, Schmitt T, Erz DH, Tewes M, Bartram CR, Janssen JW. 2005. Novel interaction partners of the TPR/MET tyrosine kinase. Faseb J 19(2):267-9.

Schmittwolf C, Kirchhof N, Jauch A, Durr M, Harder F, Zenke M, Muller AM. 2005. In vivo haematopoietic activity is induced in neurosphere cells by chromatin-modifying agents. Embo J 24(3):554-66.

Schulze-Bergkamen A, Okun JG, Spiekerkotter U, Lindner M, Haas D, Kohlmuller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J and others. 2005. Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders. Pediatr Res 58(5):873-80.

Seel C, Hager HD, Jauch A, Tariverdian G, Zschocke J. 2005. Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature. Clin Dysmorphol 14(1):51-4.

Stanulla M, Schaeffeler E, Flohr T, Cario G, Schrauder A, Zimmermann M, Welte K, Ludwig WD, Bartram CR, Zanger UM and others. 2005. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. Jama 293(12):1485-9.

Swain RK, Katoh M, Medina A, Steinbeisser H. 2005. Xenopus frizzled-4S, a splicing variant of Xfz4 is a context-dependent activator and inhibitor of Wnt/beta-catenin signaling. Cell Commun Signal 3:12.

Thirumaran RK, Gast A, Flohr T, Burwinkel B, Bartram C, Hemminki K, Kumar R. 2005. MTHFR genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia. Blood 106(7):2590-1; author reply 2591-2.

Vaclavicek A, Hemminki K, Wappenschmidt B, Bartram CR, Meindl A, Schmutzler RK, Klaes R, Untch M, Burwinkel B, Försti A. 2005. Association of prolactin and ist receptor gene regions with familial breast cancer. J Clin Endocrinol Metabolism. (in press)

Wilkening S, Bermejo JL, Burwinkel B, Klaes R, Bartram CR, Meindl A, Bugert P, Schmutzler RK, Wappenschmidt B, Untch M and others. 2005. The single nucleotide polymorphism IVS1+309 in MDM2 does not effect risk of familial breast cancer. Cancer Res. (in press)

Wirtenberger M, Hemminki K, Forsti A, Klaes R, Schmutzler RK, Grzybowska E, Bermejo JL, Wappenschmidt B, Bugert P, Butkiewicz D and others. 2005. c-MYC Asn11Ser is associated with increased risk for familial breast cancer. Int J Cancer 117(4):638-42.

Wirtenberger M, Tchatchou S, Hemminki K, Klaes R, Schmutzler RK, Bermejo J, Cheng B, Wappenschmidt B, Meindl A, Bartram CR and others. 2005. The novel Lys 526 Gln polymorphisms in AKAp13 is associated with increased risk for familial breast cancer. Carcinogenesis. (in press)

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G. 2005. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Hum Mutat 25(4):412.

Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF and others. 2005. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology 64(8):1461-4.

Zschocke J. 2005. Erbliche Stoffwechselkrankheiten – der lange Weg vom Genotyp zum Phänotyp. Klinikarzt 34: 55-60.

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Aleem E, Flohr T, Thielmann HW, Bannasch P, Mayer D. 2004. Protein phosphatase inhibitor-1 mRNA expression correlates with neoplastic transformation of epithelial liver cells and progression of hepatocellular carcinomas. Int J Oncol 24(4):869-77.

Assmann BE, Robinson RO, Surtees RA, Brautigam C, Heales SJ, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. 2004. Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology 62(10):1872-4.

Berlinghoff S, Veldwijk MR, Laufs S, Maser HP, Jauch A, Wenz F, Jens Zeller W, Fruehauf S. 2004. Susceptibility of mesothelioma cell lines to adeno-associated virus 2 vector-based suicide gene therapy. Lung Cancer 46(2):179-86.

Blaker H, Sutter C, Kadmon M, Otto HF, Von Knebel-Doeberitz M, Gebert J, Helmke BM. 2004. Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 41(2):93-8.

Boettger MB, Kirchhof K, Sergi C, Sakmann C, Meyer P. 2004. Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome. J Pediatr Ophthalmol Strabismus 41(4):247-8.

Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina AB. 2004. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis 27(6):911-5.

Christensen E, Ribes A, Merinero B, Zschocke J. 2004. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27(6):861-8.

Chudoba I, Hickmann G, Friedrich T, Jauch A, Kozlowski P, Senger G. 2004. mBAND: a high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations. Cytogenet Genome Res 104(1-4):390-3.

Frank B, Niesler B, Bondy B, Spath M, Pongratz DE, Ackenheil M, Fischer C, Rappold G. 2004. Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients. Clin Rheumatol 23(4):338-44.

Frank B, Niesler B, Nothen MM, Neidt H, Propping P, Bondy B, Rietschel M, Maier W, Albus M, Rappold G. 2004. Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 131(1):1-5.

Gokbuget N, Raff R, Brugge-Mann M, Flohr T, Scheuring U, Pfeifer H, Bartram CR, Kneba M, Hoelzer D. 2004. Risk/MRD adapted GMALL trials in adult ALL. Ann Hematol 83 Suppl 1:S129-31.

Grunig E, Koehler R, Miltenberger-Miltenyi G, Zimmermann R, Gorenflo M, Mereles D, Arnold K, Naust B, Wilkens H, Benz A and others. 2004. Primary pulmonary hypertension in children may have a different genetic background than in adults. Pediatr Res 56(4):571-8.

Hartmann C, John AL, Klaes R, Hofmann W, Bielen R, Koehler R, Janssen B, Bartram CR, Arnold N, Zschocke J. 2004. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 24(6):534.

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Hubner S, Cazzaniga G, Flohr T, van der Velden VH, Konrad M, Potschger U, Basso G, Schrappe M, van Dongen JJ, Bartram CR and others. 2004. High incidence and unique features of antigen receptor gene rearrangements in TEL-AML1-positive leukemias. Leukemia 18(1):84-91.

Illsinger S, Lucke T, Zschocke J, Gibson KM, Das AM. 2004. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatr Neurol 30(3):213-5.

Jin Q, Hemminki K, Grzybowska E, Klaes R, Soderberg M, Forsti A. 2004. Re: Integrin beta3 Leu33Pro homozygosity and risk of cancer. J Natl Cancer Inst 96(3):234-5; author reply 235.

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Keller M, Jost R, Kadmon M, Wullenweber HP, Haunstetter CM, Willeke F, Jung C, Gebert J, Sutter C, Herfarth C and others. 2004. Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling. Dis Colon Rectum 47(2):153-62.

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Mayatepek E, Flock B, Zschocke J. 2004. Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3. Pharmacogenetics 14(11):775-7.

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Boettger MB, Sergi C, Meyer P. 2003. BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer. J Carcinog 2(1):5.

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De Leenheer EM, Oudesluijs GG, Kuijpers-Jagtman AM, Rappold GA, Sengers RC, Cremers CW. 2003. Congenital conductive hearing loss in dyschondrosteosis. Ann Otol Rhinol Laryngol 112(2):153-8.

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Halama N, Yard-Breedijk A, Vardarli I, Akkoyun I, Yard B, Janssen B, van der Woude FJ. 2003. The Kruppel-like zinc-finger gene ZNF236 is alternatively spliced and excluded as susceptibility gene for diabetic nephropathy. Genomics 82(3):406-11.

Joos S, Granzow M, Holtgreve-Grez H, Siebert R, Harder L, Martin-Subero JI, Wolf J, Adamowicz M, Barth TF, Lichter P and others. 2003. Hodgkin's lymphoma cell lines are characterized by frequent aberrations on chromosomes 2p and 9p including REL and JAK2. Int J Cancer 103(4):489-95.

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Laufs S, Gentner B, Nagy KZ, Jauch A, Benner A, Naundorf S, Kuehlcke K, Schiedlmeier B, Ho AD, Zeller WJ and others. 2003. Retroviral vector integration occurs in preferred genomic targets of human bone marrow-repopulating cells. Blood 101(6):2191-8.

Leotlela PD, Jauch A, Holtgreve-Grez H, Thakker RV. 2003. Genetics of neuroendocrine and carcinoid tumours. Endocr Relat Cancer 10(4):437-50.

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Meyer P, Klaes R, Schmitt C, Boettger MB, Garbe C. 2003. Exclusion of BRAFV599E as a melanoma susceptibility mutation. Int J Cancer 106(1):78-80.

Meyer P, Voigtlaender T, Bartram CR, Klaes R. 2003. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. Hum Mutat 22(3):259.

Momoi A, Yoda H, Steinbeisser H, Fagotto F, Kondoh H, Kudo A, Driever W, Furutani-Seiki M. 2003. Analysis of Wnt8 for neural posteriorizing factor by identifying Frizzled 8c and Frizzled 9 as functional receptors for Wnt8. Mech Dev 120(4):477-89.

Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K and others. 2003. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 108(23):2843-50.

Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA. 2003. Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency. J Pediatr Endocrinol Metab 16(7):997-1004.

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Niesler B, Frank B, Kapeller J, Rappold GA. 2003. Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E. Gene 310:101-11.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W and others. 2003. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 72(5):1300-7.

Rindermann M, Grunig E, von Hippel A, Koehler R, Miltenberger-Miltenyi G, Mereles D, Arnold K, Pauciulo M, Nichols W, Olschewski H and others. 2003. Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31. J Am Coll Cardiol 41(12):2237-44.

Schiffer C, Popp S, Moshir S, Rupprath G, Dungfelder E, Hager HD, Tariverdian G, Jauch A. 2003. Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations. Clin Dysmorphol 12(2):129-31.

Seriu T, Stark Y, Erz D, Bartram CR. 2003. Size and composition of T-cell receptor delta (TCRD) junctional sequences are not predictive of the sensitivity of clonospecific oligonucleotides designed for detection of minimal residual disease in acute lymphoblastic leukemia. Int J Hematol 77(4):371-5.

Shears DJ, Endris V, Gokhale DA, Dearden SP, Radford JA, Rappold GA, Taylor GM. 2003. Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. Br J Haematol 121(2):377-9.

Silva AC, Filipe M, Kuerner KM, Steinbeisser H, Belo JA. 2003. Endogenous Cerberus activity is required for anterior head specification in Xenopus. Development 130(20):4943-53.

Takeuchi S, Seriu T, van Dongen JJ, Szczepanski T, Tsukasaki K, Takeuchi N, Fermin AC, Seo H, Bartram CR, Koeffler HP. 2003. Allelotype analysis in relapsed childhood acute lymphoblastic leukemia. Oncogene 22(44):6970-6.

Takeuchi S, Tsukasaki K, Bartram CR, Seriu T, Zimmermann M, Schrappe M, Takeuchi N, Park S, Taguchi H, Koeffler HP. 2003. Long-term study of the clinical significance of loss of heterozygosity in childhood acute lymphoblastic leukemia. Leukemia 17(1):149-54.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E and others. 2003. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. Hum Mutat 21(4):387-93.

Tremmel SC, Gotte K, Popp S, Weber S, Hormann K, Bartram CR, Jauch A. 2003. Intratumoral genomic heterogeneity in advanced head and neck cancer detected by comparative genomic hybridization. Cancer Genet Cytogenet 144(2):165-74.

Weber-Mangal S, Sinn HP, Popp S, Klaes R, Emig R, Bentz M, Mansmann U, Bastert G, Bartram CR, Jauch A. 2003. Breast cancer in young women (< or = 35 years): Genomic aberrations detected by comparative genomic hybridization. Int J Cancer 107(4):583-92.

Woerner SM, Benner A, Sutter C, Schiller M, Yuan YP, Keller G, Bork P, Doeberitz MK, Gebert JF. 2003. Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes. Oncogene 22(15):2226-35.

Wolf NI, Rahman S, Clayton PT, Zschocke J. 2003. Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. Eur J Pediatr 162(4):279-80.

Zschocke J. 2003. Phenylketonuria mutations in Europe. Hum Mutat 21(4):345-56.

Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I. 2003. The molecular basis of phenylalanine hydroxylase deficiency in Croatia. Hum Mutat 21(4):399.

Zschocke J, Schaefer JR. 2003. Homozygous familial hypercholesterolaemia in identical twins. Lancet 361(9369):1641.