Search Results - "Bathke, K D"

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent by Timmerman, V, Rautenstrauss, B, Reiter, L T, Koeuth, T, Löfgren, A, Liehr, T, Nelis, E, Bathke, K D, De Jonghe, P, Grehl, H, Martin, J J, Lupski, J R, Van Broeckhoven, C

“…Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral…”
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De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1) by Jardine, P E, Koch, M C, Lunt, P W, Maynard, J, Bathke, K D, Harper, P S, Upadhyaya, M

“…Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA…”
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Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments by Köhler, Jutta, Röhrig, Dorothee, Bathke, Klaus D, Koch, Manuela C

“…Probe p13E‐11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described…”
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Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion by Liehr, T, Rautenstrauss, B, Grehl, H, Bathke, K D, Ekici, A, Rauch, A, Rott, H D

“…A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2,…”
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Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggest somatic reversion by LIEHR, T, RAUTENSTRAUSS, B, GREHL, H, BATHKE, K. D, EKICI, A, RAUCH, A, ROTT, H.-D

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