Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2008

Publikationen 2008

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.


Moog U. Gedragsfenotypen en een verstandelijke handicap. In: 50 Jaar onderzoek naar oorzaken van verstandelijke handicaps – Capita Selecta. F.A. Beemer & I. Van Gelderen (redactie), De Werkgroep ter bestudering van somatische oorzaken van zwakzinnigheid 2008, p28-35.
 

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