Publikationen 1999

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 1999

  • Cursiefen C, Schlotzer-Schrehardt U, Holbach LM, Pfeiffer RA, Naumann GO (1999)
  • Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
  • Arch Ophthalmol 117: 681-4
  • Dobler M, Schuh J, Kiesewetter F, Schell H, Liehr T, Gebhart E (1999)
  • Deletion monitoring in skin tumors by interphase-FISH using band-specific DNA probes.
  • Int J Oncol 14: 571-6 MEDLINE
  • Gebhart E, Liehr T (1999)
  • Clonality determinded by FISH of single cell aberrations in hematopoietic neoplasias.
  • Cancer Genet Cytogenet 113: 193-194
  • Hofbeck M, Leipold G, Rauch A, Buheitel G, Singer H (1999)
  • Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect.
  • Eur J Pediatr 158: 302-7
  • Hofbeck M, Rauch R, Beinder E, Buheitel G, Leipold G, Rauch A, Singer H (1999)
  • [Rate of prenatal detection of congenital right heart defects].
  • Z Geburtshilfe Neonatol 203: 207-12
  • Huhne K, Park O, Liehr T, Rautenstrauss B (1999)
  • Expression analysis of the PMP22 gene in glioma and osteogenic sarcoma cell lines.
  • J Neurosci Res 58: 624-31 MEDLINE
  • Kraus C, Kastl S, Gunther K, Klessinger S, Hohenberger W, Ballhausen WG (1999)
  • A proven de novo germline mutation in HNPCC.
  • J Med Genet 36: 919-21
  • Liehr T, Claussen U, Gebhart E ( 1999)
  • Nucleus extraction from single mounted tissue sections.
  • Genet Analys Biomol Engin 15: 65-69
  • Liehr T, Kuhlenbaumer G, Wulf P, Taylor V, Suter U, Van Broeckhoven C, Lupski JR, Claussen U, Rautenstrauss B (1999)
  • Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.
  • Genomics 58: 106-8 MEDLINE
  • Mardin CY, Velten I, Ozbey S, Rautenstrauss B, Michels-Rautenstrauss K (1999)
  • A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.
  • J Glaucoma 8: 154-6 MEDLINE
  • Mayer K, Ballhausen W, Rott HD (1999)
  • Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
  • Hum Mutat 14: 401-11
  • Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C, Rautenstrauss B (1999)
  • Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
  • Neurogenetics 2: 137-48 MEDLINE
  • Neubauer S, StummM, Sauer R, Gebhart E ( 1999)
  • Detektion von Chromosomenaberrationen durch Dreifarben-Fluoreszenz in-situ-Hybridisierung in Ataxia Teleantiectatica Homozygoten und Heterozygoten.
  • In: Ataxia Teleangiectasia, Stuhrmann M, DörkT, Karstens JH (Hsg.), Verlag medizinische genetik, München, pp 8-10
  • Opitz JM, Rauch A (1999)
  • Von der befruchteten Eizelle zum Menschen: genetische Defekte als Schlüssel zum Verständnis der Funktion menschlicher Gene.
  • Seiten 237-254, in Ganten D u. a. (eds): Gene, Neurone, Qubits & Co. Unsere Welten der Information. Gesellschaft Deutscher Naturforscher und Ärzte, Hirzel Verlag, Stuttgart.
  • Pfeiffer RA, Rauch A, Trautmann U, Dorr HG, Hiort O, Scherer G, Rosch G, Papadopoulos T, v. d. Hardt K, Lachmann E (1999)
  • Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.
  • Eur J Pediatr 158: 213-6 MEDLINE
  • Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR (1999)
  • Localization of mariner DNA transposons in the human genome by PRINS.
  • Genome Res 9: 839-43 MEDLINE
  • Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F (1999)
  • Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
  • Am J Hum Genet. Nov;65(5):1268-78. MEDLINE
  • Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M (1999)
  • A novel 22q11.2 microdeletion in DiGeorge syndrome.
  • Am J Hum Genet 64: 659-66
  • Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR (1999)
  • Localization of mariner DNA transposons in the human genome by PRINS.
  • Genome Res 9: 839-43 MEDLINE
  • Rott HD (1999)
  • European Committee for Medical Ultrasound Safety (ECMUS).
  • Eur J Ultrasound 9: 191-3
  • Rott HD (1999)
  • Extracutaneous analogies of Blaschko lines.
  • Am J Med Genet 85: 338-41 MEDLINE
  • Rott HD (1999)
  • Safety of ultrasonic contrast agents. European Committee for Medical Ultrasound Safety.
  • Eur J Ultrasound 9: 195-7
  • Rott HD (1999)
  • Ultraschalldiagnostik: Neuere Bewertung der biologischen Sicherheit.
  • (a) internist prax 39: 455-462; (b) Arzneimittel,Therapie-Kritik 31: 177-184
  • Rott HD, W. Ballhausen, Mayer K (1999)
  • Klinik und Genetik der tuberösen Sklerose.
  • päd. prax. >56:233 – 244
  • Seeman P, Mazanec R, Marikova T, Rautenstrauss B (1999)
  • Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.
  • Ann N Y Acad Sci 883: 485-9 MEDLINE
  • Sulekova Z, Reymond M, Kockerling F, Hohenberger W, Ballhausen WG (1999)
  • Exon 14-skipping of the adenomatous polyposis coli gene in purified epithelial cells of colonic mucosa and tumors.
  • Anticancer Res 19: 601-4
  • Wettengel GV, Draeger J, Kiesewetter F, Schell H, Neubauer S, Gebhart E (1999)
  • Differentiation between Spitz nevi and malignant melanomas by interphase fluorescence in situ hybridization.
  • Int J Oncol 14: 1177-83 MEDLINE
 
 
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