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La ricerca find articoli where soggetti phrase all words 'ICHTHYOSIS BULLOSA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Whittock, NV; Ashton, GHS; Griffiths, WAD; Eady, RAJ; McGrath, JA
      New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

      BRITISH JOURNAL OF DERMATOLOGY
    2. Suga, Y; Arin, MJ; Scott, G; Goldsmith, LA; Magro, CM; Baden, LA; Baden, HP; Roop, DR
      Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

      EXPERIMENTAL DERMATOLOGY
    3. Horev, L; Glaser, B; Ben-Amitai, D; Vardy, D; Zlotogorski, A
      Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6

      HUMAN HEREDITY
    4. Oetting, WS; Fryer, JP; Wyman, Z; Shtorch, A; Cordoba, M; Lazarov, A; Reish, O
      Molecular analysis of an extended Palestinian family from Israel with monilethrix

      GENETICS IN MEDICINE
    5. Miller, AB; Breen, M; Murphy, KE
      Chromosomal localization of acidic and basic keratin genes of the domesticdog

      MAMMALIAN GENOME
    6. Korge, BP; Hamm, H; Jury, CS; Traupe, H; Irvine, AD; Healy, E; Birch-Machin, M; Rees, JL; Messenger, AG; Holmes, SC; Parry, DAD; Munro, CS
      Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    7. Muller, FB; Anton-Lamprecht, I; Kuster, W; Korge, BP
      A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    8. Arin, MJ; Longley, MA; Epstein, EH; Scott, G; Goldsmith, LA; Rothnagel, JA; Roop, DR
      A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    9. Irvine, AD; Mclean, WHI
      Human keratin diseases: the increasing spectrum of disease and subtlety ofthe phenotype-genotype correlation

      BRITISH JOURNAL OF DERMATOLOGY
    10. Smith, LT; Underwood, RA; McLean, WHI
      Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development

      BRITISH JOURNAL OF DERMATOLOGY
    11. Basarab, T; Smith, FJD; Jolliffe, VML; McLean, WHI; Neill, S; Rustin, MHA; Eady, RAJ
      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

      BRITISH JOURNAL OF DERMATOLOGY
    12. KORGE BP; HEALY E; MUNRO CS; PUNTER C; BIRCHMACHIN M; HOLMES SC; DARLINGTON S; HAMM H; MESSENGER AG; REES JL; TRAUPE H
      A MUTATIONAL HOTSPOT IN THE 2B DOMAIN OF HUMAN HAIR BASIC KERATIN-6 (HHB6) IN MONILETHRIX PATIENTS

      Journal of investigative dermatology
    13. MERCIER M; WINTER H; LABREZE C; CHAPALAIN V; SURLEVEBAZEILLE JE; TAIEB A; ROGERS MA; SCHWEITZER J
      A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1

      Journal of investigative dermatology
    14. YANG JM; LEE ES; KANG HJ; CHOI GS; YONEDA K; JUNG SY; PARK KB; STEINERT PM; LEE ES
      A GLUTAMATE TO LYSINE MUTATION AT THE END OF 2B ROD DOMAIN OF KERATIN2E GENE IN ICHTHYOSIS BULLOSA OF SIEMENS

      Acta dermato-venereologica
    15. WINTER H; ROGERS MA; LANGBEIN L; STEVENS HP; LEIGH IM; LABREZE C; ROUL S; TAIEB A; KRIEG T; SCHWEIZER J
      MUTATIONS IN THE HAIR CORTEX KERATIN HHB6 CAUSE THE INHERITED HAIR DISEASE MONILETHRIX

      Nature genetics
    16. FUCHS E
      KEITH-R-PORTER-LECTURE, 1996 - OF MICE AND MEN - GENETIC-DISORDERS OFTHE CYTOSKELETON

      Molecular biology of the cell
    17. HOHL D
      STEATOCYSTOMA MULTIPLEX AND OLIGOSYMPTOMATIC PACHYONYCHIA-CONGENITA OF THE JACKSON-SERTOLI TYPE

      Dermatology
    18. WINTER H; ROGERS MA; GEBHARDT M; WOLLINA U; BOXALL L; CHITAYAT D; BABULHIRJI R; STEVENS HP; ZLOTOGORSKI A; SCHWEIZER J
      A NEW MUTATION IN THE TYPE-II HAIR CORTEX KERATIN HHB1 INVOLVED IN THE INHERITED HAIR DISORDER MONILETHRIX

      Human genetics
    19. STEPHENS K; EHRLICH P; WEAVER M; LE R; SPENCER A; SYBERT VP
      PRIMERS FOR EXON-SPECIFIC AMPLIFICATION OF THE KRT5 GENE - IDENTIFICATION OF NOVEL AND RECURRENT MUTATIONS IN EPIDERMOLYSIS-BULLOSA SIMPLEXPATIENTS

      Journal of investigative dermatology
    20. LENZNER U; HAPPLE R; KREMER H; MENSING H; REINEL D; STEIJLEN PM; ULRICH R
      ICHTHYOSIS BULLOSA OF SIEMENS - A DISTINCT TYPE OF EPIDERMOLYTIC HYPERKERATOSIS

      EJD. European journal of dermatology
    21. KORGE BP; KRIEG T
      THE MOLECULAR-BASIS FOR INHERITED BULLOUS DISEASES

      Journal of molecular medicine
    22. ALBERS KM
      KERATIN BIOCHEMISTRY

      Clinics in dermatology
    23. TAKAHASHI K; COULOMBE PA
      A TRANSGENIC MOUSE MODEL WITH AN INDUCIBLE SKIN BLISTERING DISEASE PHENOTYPE

      Proceedings of the National Academy of Sciences of the United Statesof America
    24. BURTON JL
      KERATIN GENES AND EPIDERMOLYTIC HYPERKERATOSIS

      Lancet


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 09:24:47