Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2004

Publikationen 2004

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.

Hiddemann W., Huber H., Bartram C.R. (Hsg.): Die Onkologie, Heidelberg: Springer Verlag (2004).

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.

Jin Q, Hemminki K, Grzybowska E, Klaes R, Soderberg M, Zientek H, Rogozinska-Szczepka J, Utracka-Hutka B, Pamula J, Pekala W and others. 2004. Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers. Int J Cancer 112(1):94-9.

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.

Kirsch S, Weiss B, Zumbach K, Rappold G. 2004. Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome. Hum Genet 114(2):173-81.

Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J. 2004. A large MSH2 Alu insertion mutation causes HNPCC in a German kindred. Hum Genet 115(5):432-8.

Koehler R, Grunig E, Pauciulo MW, Hoeper MM, Olschewski H, Wilkens H, Halank M, Winkler J, Ewert R, Bremer H and others. 2004. Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension. J Med Genet 41(12):e127.

Laass MW, Spiegel M, Jauch A, Hahn G, Rupprecht E, Vogelberg C, Bartsch O, Huebner A. 2004. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol 19(6):602-8.

Marchini A, Marttila T, Winter A, Caldeira S, Malanchi I, Blaschke RJ, Hacker B, Rao E, Karperien M, Wit JM and others. 2004. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J Biol Chem 279(35):37103-14.

Matsushita C, Yang Y, Takeuchi S, Matsushita M, Van Dongen JJ, Szczepanski T, Bartram CR, Seo H, Koeffler HP, Taguchi H. 2004. Aberrant methylation in promoter-associated CpG islands of multiple genes in relapsed childhood acute lymphoblastic leukemia. Oncol Rep 12(1):97-9.

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.

Mayatepek E, Okun JG, Meissner T, Assmann B, Hammond J, Zschocke J, Lehmann WD. 2004. Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency. J Lipid Res 45(5):900-4.

Medina A, Swain RK, Kuerner KM, Steinbeisser H. 2004. Xenopus paraxial protocadherin has signaling functions and is involved in tissue separation. Embo J 23(16):3249-58.

Muncke N, Wogatzky BS, Breuning M, Sistermans EA, Endris V, Ross M, Vetrie D, Catsman-Berrevoets CE, Rappold G. 2004. Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. J Med Genet 41(12):e121.

Munns CJ, Haase HR, Crowther LM, Hayes MT, Blaschke R, Rappold G, Glass IA, Batch JA. 2004. Expression of SHOX in human fetal and childhood growth plate. J Clin Endocrinol Metab 89(8):4130-5.

Plaschke J, Kruger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Moslein G and others. 2004. Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. Hum Mutat 23(3):285.

Sabherwal N, Blaschke RJ, Marchini A, Heine-Suner D, Rosell J, Ferragut J, Blum WF, Rappold G. 2004. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia. J Med Genet 41(6):e83.

Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G. 2004. Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome. J Cell Sci 117(Pt 14):3041-8.

Sass JO, Sander S, Zschocke J. 2004. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis 27(6):741-5.

Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S and others. 2004. Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab 83(3):207-12.

Stiasny-Kolster K, Moller JC, Zschocke J, Bandmann O, Cassel W, Oertel WH, Hoffmann GF. 2004. Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients. Mov Disord 19(2):192-6.

Sutter C, Dallenbach-Hellweg G, Schmidt D, Baehring J, Bielau S, von Knebel Doeberitz M, Gebert J. 2004. Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma. Int J Gynecol Pathol 23(1):18-25.

Tsukasaki K, Tanosaki S, DeVos S, Hofmann WK, Wachsman W, Gombart AF, Krebs J, Jauch A, Bartram CR, Nagai K and others. 2004. Identifying progression-associated genes in adult T-cell leukemia/lymphoma by using oligonucleotide microarrays. Int J Cancer 109(6):875-81.

Wagner K, Hemminki K, Grzybowska E, Klaes R, Butkiewicz D, Pamula J, Pekala W, Zientek H, Mielzynska D, Siwinska E and others. 2004. The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. Carcinogenesis 25(12):2473-8.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. 2004. Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology 62(9):1503-8.

Zschocke J, Hoffmann GF. Vademecum Metabolicum. Diagnose und Therapie erblicher Stoffwechselkrankheiten. Dritte, vollständig überarbeitete Auflage Stuttgart (2004) Schattauer