Kliniken & Institute … Institute Humangenetik Forschung Publikationen 2003

Publikationen 2003

Bandmann O, Goertz M, Zschocke J, Deuschl G, Jost W, Hefter H, Muller U, Zofel P, Hoffmann G, Oertel W. 2003. The phenylalanine loading test in the differential diagnosis of dystonia. Neurology 60(4):700-2.

Becker SA, Popp S, Rager K, Jauch A. 2003. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Eur J Pediatr 162(4):267-70.

Blaker H, Scholten M, Sutter C, Otto HF, Penzel R. 2003. Somatic mutations in familial adenomatous polyps. Nuclear translocation of beta-catenin requires more than biallelic APC inactivation. Am J Clin Pathol 120(3):418-23.

Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA. 2003. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. J Biol Chem 278(48):47820-6.

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.

Bonk T, Humeny A, Gebert J, Sutter C, von Knebel Doeberitz M, Becker CM. 2003. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based detection of microsatellite instabilities in coding DNA sequences: a novel approach to identify DNA-mismatch repair-deficient cancer cells. Clin Chem 49(4):552-61.

Bradtke J, Balz H, Fonatsch C, Heinze B, Jauch A, Mohr B, Schoch C, Rieder H. 2003. Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation. BMC Bioinformatics 4:4.

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.

Fischer C, Beckmann L, Majoram P, te Meerman G, Chang-Claude J. 2003. Haplotype sharing analysis with SNPs in candidate genes: the Genetic Analysis Workshop 12 example. Genet Epidemiol 24(1):68-73.

Gamerdinger U, Teigler-Schlegel A, Pils S, Bruch J, Viehmann S, Keller M, Jauch A, Harbott J. 2003. Cryptic chromosomal aberrations leading to an AML1/ETO rearrangement are frequently caused by small insertions. Genes Chromosomes Cancer 36(3):261-72.

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.

Kolker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I and others. 2003. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 34(5):253-60.

Krawczak M, Zschocke J. 2003. A role for overdominant selection in phenylketonuria? Evidence from molecular data. Hum Mutat 21(4):394-7.

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.

Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. 2003. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat 21(4):400.

Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M and others. 2003. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat 21(4):401-7.

MacLeod RA, Nagel S, Kaufmann M, Janssen JW, Drexler HG. 2003. Activation of HOX11L2 by juxtaposition with 3'-BCL11B in an acute lymphoblastic leukemia cell line (HPB-ALL) with t(5;14)(q35;q32.2). Genes Chromosomes Cancer 37(1):84-91.

Martin N, Zugge K, Brandt R, Friebel D, Janssen B, Zimmerhackl LB. 2003. Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. Clin Genet 63(5):427-30.

Mazon Ramos A, Gil-Setas A, Berrade Zubiri S, Bandres Echeverri T, Wevers R, Engelke U, Zschocke J. 2003. [Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain]. Med Clin (Barc) 120(6):219-21.

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.

Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA and others. 2003. Familial growth and skeletal features associated with SHOX haploinsufficiency. J Pediatr Endocrinol Metab 16(7):987-96.

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.