Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2005

Publikationen 2005

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)

Chalmers RA, Bain MD, Zschocke J. 2005. Riboflavin responsive glutaryl-CoA dehydrogenase deficiency. Mol Genet Metab. (in press)

Cremer FW, Bila J, Buck I, Kartal M, Hose D, Ittrich C, Benner A, Raab MS, Theil AC, Moos M and others. 2005. Delineation of distinct subgroups of multiple myeloma and a model for clonal evolution based on interphase cytogenetics. Genes Chromosomes Cancer 44(2):194-203.

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.

Zschocke J. 2005. Erbliche Stoffwechselkrankheiten – vom Genotyp zum Phänotyp. Heilbronn: SPS Publications.