A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families
Maestrini, Elena, Korge, Bernhard P., Ocaña-Sierra, Juan, Calzolari, Elisa, Cambiaghi, Stefano, Scudder, Pat M., Hovnanian, Alain, Monaco, Anthony P., Munro, Colin S.
Published in Human molecular genetics (01.07.1999)
Published in Human molecular genetics (01.07.1999)
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Journal Article
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
Müller, F.B., Haußer, I., Berg, D., Casper, C., Maiwald, R., Jung, A., Jung, H., Korge, B.P.
Published in British journal of dermatology (1951) (01.03.2002)
Published in British journal of dermatology (1951) (01.03.2002)
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Journal Article
Loricrin Mutation in Vohwinkel’s Keratoderma Is Unique to the Variant with Ichthyosis
Korge, Bernhard P., Ishida-Yamamoto, Akemi, Pünter, Claudia, Dopping-Hepenstal, Patricia J.C., Iizuka, Hajime, Stephenson, Anthea, Eady, Robin A.J., Munro, Colin S.
Published in Journal of investigative dermatology (01.10.1997)
Published in Journal of investigative dermatology (01.10.1997)
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Journal Article
A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay
Müller, F.B., Tsianakas, A., Kuwert, C., Korge, B.P., Hunzelmann, N.
Published in British journal of dermatology (1951) (01.05.2005)
Published in British journal of dermatology (1951) (01.05.2005)
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Journal Article
Adrenomedullin: expression and possible role in human skin and hair growth
Müller, F.B., Müller-Röver, S., Korge, B.P., Kapas, S., Hinson, J.P., Philpott, M.P.
Published in British journal of dermatology (1951) (01.01.2003)
Published in British journal of dermatology (1951) (01.01.2003)
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Journal Article
A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
Korge, Bernhard P., Healy, Eugene, Munro, Colin S., Birch-Machin, Mark, Holmes, Susan C., Darlington, Silke, Hamm, Henning, Messenger, Andrew G., Rees, Jonathan L., Traupe, Heiko, Pünter, Claudia
Published in Journal of investigative dermatology (01.11.1998)
Published in Journal of investigative dermatology (01.11.1998)
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Journal Article
Keratin and keratinization
Smack, David Phillips, Korge, Bernhard P., James, William D.
Published in Journal of the American Academy of Dermatology (1994)
Published in Journal of the American Academy of Dermatology (1994)
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Journal Article
Extensive Size Polymorphism of the Human Keratin 10 Chain Resides in the C-Terminal V2 Subdomain Due to Variable Numbers and Sizes of Glycine Loops
Korge, Bernhard P., Gan, Song-Qing, McBride, O. Wesley, Mischke, Dietmar, Steinert, Peter M.
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1992)
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Journal Article
A Premature Stop Codon Mutation in the 2B Helix Termination Peptide of Keratin 5 in a German Epidermolysis Bullosa Simplex Dowling–Meara Case
Müller, Felix B., Korge, Bernhard P., Anton-Lamprecht, Ingrun, Küster, Wolfgang
Published in Journal of investigative dermatology (01.06.1999)
Published in Journal of investigative dermatology (01.06.1999)
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Journal Article
Genes Encoding Structural Proteins of Epidermal Cornification and S100 Calcium-Binding Proteins Form a Gene Complex (“Epidermal Differentiation Complex”) on Human Chromosome 1q21
Mischke, Dietmar, Korge, Bernhard P., Marenholz, Ingo, Volz, Armin, Ziegler, Andreas
Published in Journal of investigative dermatology (01.05.1996)
Published in Journal of investigative dermatology (01.05.1996)
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Journal Article
Hailey-Hailey Disease Maps to a 5 cM Interval on Chromosome 3q21-q24
Richard, Gabriela, Korge, Bernhard P., Wright, Andrea R., Mazzanti, Cinzia, Harth, Wolfgang, Annicchiarico-Petruzzelli, Margherita, Compton, John G., Bale, Sherri J.
Published in Journal of investigative dermatology (01.09.1995)
Published in Journal of investigative dermatology (01.09.1995)
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Journal Article
Altered Proliferation, Synthetic Activity, and Differentiation of Cultured Human sebocytes in the Absence of Vitamin A and Their Modulation by Synthetic Retinoids
Zouboulis, Christos C, Korge, Bernhard P, Mischke, Dietmar, Orfanos, Constantin E
Published in Journal of investigative dermatology (01.10.1993)
Published in Journal of investigative dermatology (01.10.1993)
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Journal Article
Genetic Analysis of the Epidermal Differentiation Complex (EDC) on Human Chromosome 1q21: Chromosomal Orientation, New Markers, and a 6-Mb YAC Contig
Marenholz, Ingo, Volz, Armin, Ziegler, Andreas, Davies, Angela, Ragoussis, Ioannis, Korge, Bernhard P., Mischke, Dietmar
Published in Genomics (San Diego, Calif.) (01.11.1996)
Published in Genomics (San Diego, Calif.) (01.11.1996)
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Journal Article
Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
Korge, Bernhard P., Hamm, Henning, Jury, Catherine S., Traupe, Heiko, Irvine, Alan D., Healy, Eugene, Birch-Machin, Mark, Rees, Jonathan L., Messenger, Andrew G., Holmes, Susan C., Parry, David A.D., Munro, Colin S.
Published in Journal of investigative dermatology (01.10.1999)
Published in Journal of investigative dermatology (01.10.1999)
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Journal Article
Glycine loops in proteins: their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins
Steinert, P M, Mack, J W, Korge, B P, Gan, S Q, Haynes, S R, Steven, A C
Published in International journal of biological macromolecules (01.06.1991)
Published in International journal of biological macromolecules (01.06.1991)
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