Publikationen 2001

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2001

  •  Abed AA, Gunther K, Kraus C, Hohenberger W, Ballhausen WG (2001) Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4). Hum Mutat 18:397-410.MEDLINE
  • Appel S, Reichwald K, Zimmermann W, Reis A, Rosenthal A, Hennies HC (2001) Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Genomics 75: 6-8. MEDLINE
  • Arutyunyan R, Neubauer S, Martus P, Dörk T, Stumm M, Gebhart E (2001) Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes. Experimental Oncology 23: 23-28.
  • Bayoumi R, Saar K, Lee YA, Nurnberg G, Reis A, Nur EKM, Al-Gazali LI (2001) Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. J Med Genet 38: 369-73. MEDLINE
  • Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C (2001) Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 28: 218-9. MEDLINE
  • Brecevic L, Verdorfer I, Saul W, Trautmann U, Gebhart E (2001) The cytogenetic view of standard genomic hybridization (CGH): Deletions of 20q in human leukemia as a measure of the sensitivity of the technique. Anticancer Res 21: 89-92. MEDLINE
  • Burger R, Guenther A, Bakker F, Schmalzing M, Bernand S, Baum W, Duerr B, Hocke GM, Steininger H, Gebhart E, Gramatzki M (2001) Gp 130 and Ras-mediated signaling in human plasma cell line INA-6: a cytokine-regulated tumor model for plasmocytoma. Hematol J 2: 45-53.
  • Chrzanowska KH, Stumm M, Bekiesiska-Figatowska M, Varon R, Biaecka M, Gregorek H, Michakiewicz J, Krajewska-Walasek M, Jowiak S, Reis A (2001) Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. J Med Genet 38: E3. MEDLINE
  • Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauß B (2000). T>C transition in Codon 72 (TCG-CCG), S72P, a putative hotspot in PMP22. Human Mutation, 17(1): 81 MEDLINE
  • Gebhart E, Rösler W, Gramatzki M, Trautmann U (2001) FISH monitoring of 100 courses of human leukemias; The cytogenetic viewpoint. Int J Oncol 19: 617-623. MEDLINE
  • Gebhart E, Verdorfer I, Neubauer S (2001) Anwendungsbeispiele einer Dreifarb-Chromosomen-Painting-Technik im zytogenetischen Biomonitoring. In J. Angerer (Hrsg.) Biological Monitoring (DFG). Wiley-VCG, 124-132
  • Graw J, Klopp N, Loster J, Soewarto D, Fuchs H, Becker-Follmann J, Reis A, Wolf E, Balling R, de Angelis MH (2001) Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts. Genetics 157: 1313-20. MEDLINE
  • Graw J, Loster J, Soewarto D, Fuchs H, Meyer B, Reis A, Wolf E, Balling R, de Angelis MH (2001) Characterization of a new, dominant V124E mutation in the mouse alphaA- crystallin-encoding gene. Invest Ophthalmol Vis Sci 42: 2909-15.MEDLINE
  • Graw J, Loster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, de Angelis MH (2001) Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. Invest Ophthalmol Vis Sci 42: 1574-80. MEDLINE
  • Herrera LA, Rodriguez U, Gebhart E, Ostrosky-Wegman P (2001) Increased translocation frequency of chromosomes 7, 11, and 14 in lymphocytes from patienst with neurocysticercosis. Mutagenesis 16;495-497. MEDLINE
  • Huehne K, Rautenstrauss B (2001) Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines International Journal of Molecular Medicine Jun;7(6):669-75 MEDLINE
  • Immervoll T, Loesgen S, Dutsch G, Gohlke H, Herbon N, Klugbauer S, Dempfle A, Bickeboller H, Becker-Follmann J, Ruschendorf F, Saar K, Reis A, Wichmann HE, Wjst M. Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes. Hum Mutat. 18(4):327-36. MEDLINE
  • Kochling J, Karbasiyan M, Reis A (2001) Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet 9: 599-605. MEDLINE
  • Krebsova A, Kuster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC (2001) Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 69: 216-22. MEDLINE
  • Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernandez E, Mendez M, Hennies HC, Neundorfer B, Barrantes R, Reis A, Rautenstrauss B (2001) A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3. Am J Hum Genet 68: 269-274 MEDLINE
  • Lestringant GG, Frossard PM, Eckl KM, Reis A, Hennies HC (2001) Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma. J Invest Dermatol 116: 825-7.
  • Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U, Rautenstrauss B (2001) Regional localization of 10 mariner transposon like ESTs by means of FISH - evidence for a correlation with fragile sites. Mammalian Genome 12:326-328. MEDLINE
  • Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L (2001) A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet 38: 113-7. MEDLINE
  • Michels-Rautenstrauss KG, Mardin CY, Zenker M, Gusek-Schneider G, Rautenstrauss BW (2001) Primary Congenital Glaucoma (PCG): 3 case reports on novel mutations and combination of mutations in the GLC3A (CYP1B1) gene Journal of Glaucoma 10:354-357 MEDLINE
  • Naumann R, Mohm J, Reuner U, Kroschinsky F, Rautenstrauss B, Ehninger G (2001) Early recognition of hereditary motor and sensory neuropathy type 1 (HMSN-1) can avoid life-threatening Vincristine Neurotoxicity British Journal of Hematology 115(2):323-5 MEDLINE
  • Neubauer S, Arutyunyan R, Stumm M, Dörk T, Bendix R, Bremer M, Varon R, Sauer R, Gebhart E (2001) Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homo- and heterozygotes as determined by three-colour FISH chromosome painting. Radiat Res - im Druck
  • Niemann S, Becker-Follmann J, Nurnberg G, Ruschendorf F, Sieweke N, Hugens-Penzel M, Traupe H, Wienker TF, Reis A, Muller U (2001) Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. Am J Med Genet 98: 32-6. MEDLINE
  • Opitz JM, Rauch AM, Poss A, Pfeiffer A, Folland DS, Walker D (2001) The FG syndrome: perspective in 2001. Ital J Pediatr 27:715-729.
  • Pickard B, Dean W, Engemann S, Bergmann K, Fuermann M, Jung M, Reis A, Allen N, Reik W, Walter J (2001) Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development. Mech Dev 103: 35-47. MEDLINE
  • Rauch A, Schellmoser S, Kraus C, Dorr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A (2001) First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 99: 338-42. MEDLINE
  • Rautenstrauß B, Lupski JR, Timmerman V (2001) Europäische Leitlinien zur molekulargenetischen Diagnostik der Charcot-Marie-Tooth'schen Erkrankung des Typs 1A sowie der tomakulösen Neuropathie Medizinische Genetik 3, 13. Jahrgang: 309-314
  • Ries M, Easton RL, Longstaff C, Zenker M, Corran PH, Morris HR, Dell A, Gaffney PJ. (2001) Differences between neonates and adults in tissue-type-plasminogen activator (t-PA)-catalyzed plasminogen activation with various effectors and in carbohydrate sequences of fibrinogen chains. Thromb Res 103:173-84.MEDLINE
  • Rott HD (2001) Sicherheitsaspekte der Doppler- und Farbdopplersonographie. Kap. 2 in: Schmidt W, Kurjak A: Farbdopplersonographie in Gynäkologie und Geburtshilfe. Thieme-Verlag, Stuttgart.
  • Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E (2001) Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 21:289-92.MEDLINE
  • Schmitt-Egenolf M, Windemuth C, Hennies HC, Albis-Camps M, von Engelhardt B, Wienker T, Reis A, Traupe H, Blasczyk R (2001) Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families. Tissue Antigens 57: 440-6. MEDLINE
  • Steinhart H, Bohlender J, Iro H, Jung V, Constantinidis J, Gebhart E, Pahl S, Urbschat S (2001) DNA amplification on chromosome 7q in squamous cell carcinomas of the tongue. Int J Oncol 19: 851-855. MEDLINE
  • Stober G, Pfuhlmann B, Nurnberg G, Schmidtke A, Reis A, Franzek E, Wienker TF (2001) Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II. Eur Arch Psychiatry Clin Neurosci 251: I25-30. MEDLINE
  • Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LV, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R (2001) Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport 12: 625-9. MEDLINE
  • Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K (2001) A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22. Am J Hum Genet 68: 509-14. MEDLINE
  • Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Burger J (2001) A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 38: 392-6. MEDLINE
  • Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K (2001) Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 61: 3570-2. MEDLINE
  • Verdorfer I, Brecevic L, Saul W, Schenker B, Kirsch M, Trautmann U, Helm G, Gramatzki M, Gebhart E (2001) CGH-aided unravelling of complex karyotypes in human hematopoietic neoplasia (Lead article). Cancer Genet Cytogenet 124: 1-6. MEDLINE
  • Verdorfer I, Neubauer S, Letzel S, Angerer J, Arutyunyan R, Martus P, Wucherer M, Gebhart E (2001) Chromosome painting for cytogenetic monitoring of occupationally exposed and non-exposed groups of human individuals. Mutation Res 491: 97-109.
  • Zenker M (2001) Diagnosis of FS should not be made until PKS is ruled out. Am J Med Genet 102:306-7.MEDLINE
 
 
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