F B Muller

Summary

Affiliation: University of Cologne
Country: Germany

Publications

  1. ncbi [Multiple autoimmune syndrome. Reynolds-syndrome (acral scleroderma, primary biliary cirrhosis, Sjögren syndrome) associated with the lupus erythematosus/lichen planus overlap syndrome]
    F B Muller
    Klinik und Poliklinik für Dermatologie und Venerologie Universität Köln, Koln
    Hautarzt 55:465-70. 2004
  2. ncbi A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay
    F B Muller
    Department of Dermatology, University of Cologne, Kerpener Str 62, 50937 Koln, Germany
    Br J Dermatol 152:1030-2. 2005
  3. ncbi [Incomplete tonsure like alopecia]
    F B Muller
    Klinik und Poliklinik fur Dermatologie und Venerologie, Koln
    Hautarzt 57:246-9. 2006
  4. ncbi A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
    Felix B Müller
    Department of Dermatology, University of Cologne, 50924 Köln, Germany
    Hum Mol Genet 15:1133-41. 2006
  5. ncbi Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly
    Felix B Müller
    Department of Dermatology, University of Cologne, Cologne, Germany
    Hum Mutat 27:719-20. 2006
  6. ncbi A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
    F B Muller
    Department of Dermatology and Venereology, University of Cologne, Germany
    J Invest Dermatol 112:988-90. 1999
  7. ncbi Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
    F B Muller
    Klinik und Poliklinik fur Dermatologie und Venerologie, Universitat zu Koln, Germany
    J Invest Dermatol 111:900-2. 1998
  8. ncbi Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
    F B Muller
    Department of Dermatology, University of Cologne, Germany
    Br J Dermatol 146:495-9. 2002
  9. ncbi Adrenomedullin: expression and possible role in human skin and hair growth
    F B Muller
    Department of Dermatology, University of Cologne, Germany
    Br J Dermatol 148:30-8. 2003

Detail Information

Publications9

  1. ncbi [Multiple autoimmune syndrome. Reynolds-syndrome (acral scleroderma, primary biliary cirrhosis, Sjögren syndrome) associated with the lupus erythematosus/lichen planus overlap syndrome]
    F B Muller
    Klinik und Poliklinik für Dermatologie und Venerologie Universität Köln, Koln
    Hautarzt 55:465-70. 2004
    ..Her findings correspond to type II of the multiple autoimmune syndrome (MAS) and can be described as an association of Reynolds syndrome and the lupus erythematosus/lichen planus-overlap syndrome...
  2. ncbi A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay
    F B Muller
    Department of Dermatology, University of Cologne, Kerpener Str 62, 50937 Koln, Germany
    Br J Dermatol 152:1030-2. 2005
    ..Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases...
  3. ncbi [Incomplete tonsure like alopecia]
    F B Muller
    Klinik und Poliklinik fur Dermatologie und Venerologie, Koln
    Hautarzt 57:246-9. 2006
  4. ncbi A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
    Felix B Müller
    Department of Dermatology, University of Cologne, 50924 Köln, Germany
    Hum Mol Genet 15:1133-41. 2006
    ..Identification of the heterogeneity of this disorder has a major impact for the accurate genetic counseling of patients and their families and also has implications for gene-therapy approaches...
  5. ncbi Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly
    Felix B Müller
    Department of Dermatology, University of Cologne, Cologne, Germany
    Hum Mutat 27:719-20. 2006
    ..Detailed knowledge of the spectrum of EBS mutations and their genotype-phenotype correlation is essential for accurate genetic counselling and prenatal diagnosis...
  6. ncbi A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
    F B Muller
    Department of Dermatology and Venereology, University of Cologne, Germany
    J Invest Dermatol 112:988-90. 1999
    ..This represents the first premature stop codon mutation identified within the K/LLEGE motif of any disorder reported so far that is caused by keratin mutations...
  7. ncbi Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
    F B Muller
    Klinik und Poliklinik fur Dermatologie und Venerologie, Universitat zu Koln, Germany
    J Invest Dermatol 111:900-2. 1998
    ..In addition, they confirm that the gene segments encoding the linker regions represent hotspots for mutations...
  8. ncbi Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
    F B Muller
    Department of Dermatology, University of Cologne, Germany
    Br J Dermatol 146:495-9. 2002
    ....
  9. ncbi Adrenomedullin: expression and possible role in human skin and hair growth
    F B Muller
    Department of Dermatology, University of Cologne, Germany
    Br J Dermatol 148:30-8. 2003
    ..Two receptors, L1 and calcitonin receptor-like receptor (CRLR), which are able to bind AM, have been cloned and characterized...