Publikationen 2002

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2002

  • Appel S, Filter M, Reis A, Hennies HC, Bergheim A, Ogilvie E, Arndt S, Simmons A, Lovett M, Hide W, Ramsay M, Reichwald K, Zimmermann W, Rosenthal A (2002) Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet 10:17-25.MEDLINE
  • Broeckel U, Hengstenberg C, Mayer B, Holmer S, Martin LJ, Comuzzie AG, Blangero J, Nurnberg P, Reis A, Riegger GA, Jacob HJ, Schunkert H (2002) A comprehensive linkage analysis for myocardial infarction and its related risk factors.Nat Genet 30:210-4.MEDLINE
  • Burger J, Horn D, Tonnies H, Neitzel H, Reis A (2002) Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 111:233-7.MEDLINE
  • Burger R, Guenther A, Bakker F, Schmalzing M, Bernand S, Baum W, Duerr B, Hocke GM, Steininger H, Gebhart E, Gramatzki M (2002) Gp130 and ras mediated signaling in human plasma cell line INA-6: a cytokine-regulated tumor model for plasmacytoma. Hematol J. 2(1):42-53.MEDLINE
  • Efferth T, Davey M, Olbrich A, Rucker G, Gebhart E, Davey R (2002) Activity of Drugs from Traditional Chinese Medicine toward Sensitive and MDR1- or MRP1-Overexpressing Multidrug-Resistant Human CCRF-CEM Leukemia Cells. Blood Cells Mol Dis. 28(2):160-8.MEDLINE
  • Efferth T, Miyachi H, Drexler HG, Gebhart E (2002) Methylthioadenosine phosphorylase as target for chemoselective treatment of T-cell acute lymphoblastic leukemic cells. Blood Cells Mol Dis. 28(1):47-56MEDLINE
  • Efferth T, Olbrich A, Sauerbrey A, Ross DD, Gebhart E, Neugebauer M (2002) Activity of ascaridol from the anthelmintic herb Chenopodium anthelminticum L. against sensitive and multidrug-resistant tumor cells. Anticancer Res 22(6C):4221-4. MEDLINE
  • Efferth T, Verdorfer I, Miyachi H, Sauerbrey A, Drexler HG, Chitambar CR, Haber M, Gebhart E (2002) Genomic Imbalances in Drug-Resistant T-Cell Acute Lymphoblastic CEM Leukemia Cell Lines. Blood Cells Mol Dis 29(1):1-13.MEDLINE
  • Ekici A, Oezbey S, Fuchs C, Nelis E, Van Broeckhoven C, Schachner M, Rautenstrauss B (2002) Tracing Myelin Protein Zero (MPZ, P0) in vivo by construction of P0-GFP fusion proteins. BMC Cell Biol 26;3(1):29. MEDLINE
  • Gebhart E (2002) Archival cytogenetic slides. In: Rautenstrauß BW u. Liehr T, eds.: FISH technology. Springer, Berlin, Heidelberg, New York, Chapter 10.
  • Gebhart E, Thoma K, Verdorfer I, Drexler HG, Efferth T (2002) Genomic imbalances in T-cell acute lymphoblastic leukemia cell lines. Int J Oncol. 21(4):887-94.MEDLINE
  • Graw J, Loster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Angelis M (2002) V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. Mamm Genome 13:452-5.MEDLINE
  • Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Cruz NS, Lindner TH, Herrmann H, Reis A, Sperling K (2002) Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger Huet anomaly). Nat Genet 31:410-4.MEDLINE
  • Hovels-Gurich HH, Schumacher K, Vazquez-Jimenez JF, Qing M, Huffmeier U, Buding B, Messmer BJ, von Bernuth G, Seghaye MC (2002) Cytokine balance in infants undergoing cardiac operation. Ann Thorac Surg 73(2):601-8; discussion 608-9MEDLINE
  • Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW (2002) Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Hum Mutat 21(1):100.MEDLINE
  • Jiang QJ, Izakovic J, Zenker M, Fartasch M, Meneguzzi G, Rascher W, Schneider H (2002) Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. J Pediatr 141: 553-9.MEDLINE
  • Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Muller P, Christensen E, Trefz FK, Wundisch GF, Rascher W, Hoffmann GF (2002) Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis 25:483-90.MEDLINE
  • Koch A, Hofbeck M, Buheitel G, Dörr H-G, Rauch A, Rauch R, Singer H (2002) Hypoparathyroidism in conotruncal heart defects. Eur J Pediatr 161:208-211.MEDLINE
  • Kocks A, Endele S, Heller R, Schröder B, Schäfer H-J, Städtler C, Makrigeorgi-Butera M, Winterpacht A (2002) Partial deletion of 4p and 4q in a fetus with ring chromosome 4 - phenotype and molecular mapping of the breakpoints. J. Med. Genet.39:e6MEDLINE
  • Kuster W, Reis A, Hennies C (2002) Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res 294:268-72.MEDLINE
  • Meyer J, Ortega G, Schraut K, Nurnberg G, Ruschendorf F, Saar K, Mossner R, Wienker TF, Reis A, Stober G, Lesch KP (2002) Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus. Mol Psychiatry 7:220-3.MEDLINE
  • Michels-Rautenstrauss K, Mardin C, Wakili N, Junemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Ozbey S, Naumann GO, Reis A, Rautenstrauss B (2002) Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum Mutat 20(6):479-80.MEDLINE
  • Neubauer S, Arutyunyan R, Stumm M, Dork T, Bendix R, Bremer M, Varon R, Sauer R, Gebhart E (2002) Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat Res. 157(3):312-21.MEDLINE
  • Ott CE, Skroch E, Steinhart H, Verdorfer I, Pahl S, Iro H, Gebhart E, Bohlender JE (2002) Thin section arrays for I-FISH analysis of chromosome-specific imbalances in squamous cell carcinomas of the head and neck. Int J Oncol 20(3):623-30. MEDLINE
  • Rauch R, Rauch A, Koch A, Kumpf M, Dufke A, Singer H, Hofbeck M (2002) Cervical Origin of the Subclavian Artery as a Specific Marker for Monosomy 22q11. Am J Cardiol 89:481-484.MEDLINE
  • Rautenstrauß B. and Liehr T. (2002) FISH Technology: Lab Manual (Springer Lab Manual) Springer-Verlag, Berlin-Heidelberg; ISBN 3-540-67276-1
  • Reis A (2002) Dissecting the genetic component of complex diseases in humans. Ernst Schering Res Found Workshop:1-15.MEDLINE
  • Ries M, Easton RL, Longstaff C, Zenker M, Morris HR, Dell A, Gaffney PJ (2002) Differences between neonates and adults in carbohydrate sequences and reaction kinetics of plasmin and alpha(2)-antiplasmin. Thromb Res 105: 247-56.MEDLINE
  • Ries M, Zenker M, Girisch M, Klinge J, Singer H (2002) Percutaneous endovascular catheter aspiration thrombectomy of severe superior vena cava syndrome. Arch Dis Child Fetal Neonatal Ed 87: F64-6.MEDLINE
  • Rott HD (2002) Sicherheitsaspekte der Ultraschalldiagnostik in der Schwangerschaft. Kap. 48 in: Merz E: Sonographische Diagnostik in Gynäkologie und Geburtshilfe. 2. Auflage Bd. 2, Thieme-Verlag, Stuttgart.
  • Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K (2002) Cystlike Cerebral Lesions in Tuberous Sclerosis. Am. J. Med. Genet. 111: 435-439.MEDLINE
  • Stober G, Seelow D, Ruschendorf F, Ekici A, Beckmann H, Reis A (2002) Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity. Hum Genet 111:323-30.MEDLINE
  • Weise A, Liehr T, Efferth T, Kuechler A, Gebhart E (2002) Comparative M-FISH and CGH analyses in sensitive and drug-resistant human T-cell acute leukemia cell lines. Cytogenet Genome Res 98(2-3):118-25MEDLINE
  • Zenker M, Neubauer S, Varon R, Rott HD, Wündisch GF, Reis A (2002) Nijmegen-Breakage-Syndrom. Pädiat Prax 61: 499-508.
  • Zenker M, Ries M (2002) Differences between neonates and adults in plasmin inhibitory and antifibrinolytic action of aprotinin. Thromb Res 107: 17-21.MEDLINE
  • Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U (2002) Monosomy 1p36 - a recently delineated, clinically recognizable syndrome. Clin Dysmorphol 11:43-48.MEDLINE
  • Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A (2002) "Mowat-Wilson" Syndrome with and without Hirschsprung Disease is a distinct, recognizable Multiple Congenital Anomalies-Mental Retardation Syndrome caused by Mutations in the Zinc finger homeobox 1 B gene (ZFHX1B) Am J Med Genet, 108:177-181.MEDLINE
 
 
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