Publications 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