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La ricerca find articoli where soggetti phrase all words 'EPIDERMOLYTIC PALMOPLANTAR KERATODERMA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 20 riferimenti
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    1. Mikami, I; Harada, H; Nagai, H; Tsuneizumi, M; Nobe, Y; Koizumi, K; Sugano, S; Tanaka, S; Emi, M
      Down-regulation in multiple human cancers of a novel gene, DMHC, from 17q25.1 that encodes an integral membrane protein

      JAPANESE JOURNAL OF CANCER RESEARCH
    2. Rodriguez, D; Gauthier, F; Bertini, E; Bugiani, M; Brenner, M; N'guyen, S; Goizet, C; Gelot, A; Surtees, R; Pedespan, JM; Hernandorena, X; Troncoso, M; Uziel, G; Messing, A; Ponsot, G; Pham-Dinh, D; Dautigny, A; Boespflug-Tanguy, O
      Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    3. Norgett, EE; Hatsell, SJ; Carvajal-Huerta, L; Cabezas, JCR; Common, J; Purkis, PE; Whittock, N; Leigh, IM; Stevens, HP; Kelsell, DP
      Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

      HUMAN MOLECULAR GENETICS
    4. Swensson, O; Swensson, B; Nolle, B; Rochels, R; Wannke, B; Thiel, HJ
      Keratin gene mutations cause Meesmann's corneal dystrophy and autosomal dominant skin disorders of cornification

      KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
    5. Smith, FJD; McKusick, VA; Nielsen, K; Pfendner, E; Uitto, J; McLean, WHI
      Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

      PRENATAL DIAGNOSIS
    6. Kobayashi, S; Kore-eda, S; Tanaka, T
      Demonstration of the pathogenic effect of point mutated keratin 9 in vivo

      FEBS LETTERS
    7. Smith, FJD; Del Monaco, M; Steijlen, PM; Munro, CS; Morvay, M; Coleman, CM; Rietveld, FJR; Uitto, J; McLean, WH
      Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

      BRITISH JOURNAL OF DERMATOLOGY
    8. Coleman, CM; Munro, CS; Smith, FJD; Uitto, J; McLean, WHI
      Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

      BRITISH JOURNAL OF DERMATOLOGY
    9. LACHAUME P; HITTE C; JOUQUAND S; PRIAT C; GALIBERT F
      IDENTIFICATION AND ANALYSIS OF THE DOG KERATIN-9 (KRT9) GENE

      Animal genetics
    10. SWENSSON O; LANGBEIN L; MCMILLAN JR; STEVENS HP; LEIGH IM; MCLEAN WHI; LANE EB; EADY RAJ
      SPECIALIZED KERATIN EXPRESSION PATTERN IN HUMAN RIDGED SKIN AS AN ADAPTATION TO HIGH PHYSICAL STRESS

      British journal of dermatology
    11. YANG JM; LEE S; KANG HJ; LEE JH; YEO UC; SON IY; PARK KB; STEINERT PM; LEE ES
      MUTATIONS IN THE 1A ROD DOMAIN SEGMENT OF THE KERATIN-9 GENE IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

      Acta dermato-venereologica
    12. STARFIELD M; HENNIES HC; JUNG M; JENKINS T; WIENKER T; HULL P; SPURDLE A; KUSTER W; RAMSAY M; REIS A
      LOCALIZATION OF THE GENE CAUSING KERATOLYTIC WINTER ERYTHEMA TO CHROMOSOME 8P22-P23, AND EVIDENCE FOR A FOUNDER EFFECT IN SOUTH-AFRICAN AFRIKAANS-SPEAKERS

      American journal of human genetics
    13. KORGE BP; KRIEG T
      THE MOLECULAR-BASIS FOR INHERITED BULLOUS DISEASES

      Journal of molecular medicine
    14. KOBAYASHI S; TANAKA T; MATSUYOSHI N; IMAMURA S
      KERATIN-9 POINT MUTATION IN THE PEDIGREE OF EPIDERMOLYTIC HEREDITARY PALMOPLANTAR KERATODERMA PERTURBS KERATIN INTERMEDIATE FILAMENT NETWORK FORMATION

      FEBS letters
    15. RISK JM; FIELD EA; FIELD JK; WHITTAKER J; FRYER A; ELLIS A; SHAW JM; FRIEDMANN PS; BISHOP DT; BODMER J; LEIGH IM
      TYLOSIS ESOPHAGEAL CANCER MAPPED

      Nature genetics
    16. OSTERMEYER EA; FRIEDMAN LS; LYNCH ED; SZABO CI; DOWD P; LEE MK; ROWELL SE; KING MC
      GREEN PIGS, RED HERRINGS, AND A GOLDEN HOE - A RETROSPECTIVE ON THE IDENTIFICATION OF BRCA1 AND THE BEGINNING OF ITS CHARACTERIZATION

      Cold Spring Harbor Symposia on Quantitative Biology
    17. FRIEDMAN LS; OSTERMEYER EA; LYNCH ED; SZABO CI; ANDERSON LA; DOWD P; LEE MK; ROWELL SE; BOYD J; KING MC
      THE SEARCH OF BRCA1

      Cancer research
    18. ROGAEV EI; ROGAEVA EA; GINTER EK; KOROVAITSEVA GI; FARRER LA; SHLENSKY AB; PRITKOV AN; MORDOVTSEV VN; STGEORGEHYSLOP PH
      IDENTIFICATION OF THE GENETIC-LOCUS FOR KERATOSIS-PALMARIS-ET-PLANTARIS ON CHROMOSOME-17 NEAR THE RARA AND KERATIN TYPE-I GENES

      Nature genetics
    19. FLUCKIGER R; ITIN PH
      KERATOSIS-EXTREMITATUM (GREITHER DISEASE) - CLINICAL-FEATURES, HISTOLOGY, ULTRASTRUCTURE

      Dermatology
    20. ZEMTSOV A; VEITSCHEGGER M
      KERATODERMAS

      International journal of dermatology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 03:13:34