메뉴 건너뛰기




Volumn 51, Issue 10, 2006, Pages 841-845

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Author keywords

ARS (component B); Genetic exclusion; Linkage analysis; Mal de Meleda; Palmoplantar keratoderma

Indexed keywords

PROTEIN; SLURP 1 PROTEIN; UNCLASSIFIED DRUG;

EID: 33749040721     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0002-8     Document Type: Article
Times cited : (14)

References (21)
  • 1
    • 0032891247 scopus 로고    scopus 로고
    • Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily
    • Adermann K, Wattler F, Wattler S, Heine G, Meyer M, Forssmann WG, Nehls M (1999) Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily. Protein Sci 8:810-819
    • (1999) Protein Sci , vol.8 , pp. 810-819
    • Adermann, K.1    Wattler, F.2    Wattler, S.3    Heine, G.4    Meyer, M.5    Forssmann, W.G.6    Nehls, M.7
  • 4
    • 0033769957 scopus 로고    scopus 로고
    • Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda
    • Bouadjar B, Benmazouzia S, Prud'homme JF, Cure S, Fischer J (2000) Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda. Arch Dermatol 136:1247-1252
    • (2000) Arch Dermatol , vol.136 , pp. 1247-1252
    • Bouadjar, B.1    Benmazouzia, S.2    Prud'homme, J.F.3    Cure, S.4    Fischer, J.5
  • 9
    • 0030459791 scopus 로고    scopus 로고
    • Meleda disease: Report of two cases investigated by electron microscopy
    • Frenk E, Guggisberg D, Mevorah B, Hohl D (1996) Meleda disease: report of two cases investigated by electron microscopy. Dermatology 193:358-361
    • (1996) Dermatology , vol.193 , pp. 358-361
    • Frenk, E.1    Guggisberg, D.2    Mevorah, B.3    Hohl, D.4
  • 10
    • 0022373634 scopus 로고
    • Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northern most country of Sweden
    • Gamborg Nielsen P (1985) Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northern most country of Sweden. Clin Genet 28:361-366
    • (1985) Clin Genet , vol.28 , pp. 361-366
    • Gamborg Nielsen, P.1
  • 11
  • 12
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 13
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 42:1567-1570
    • (1987) Science , vol.42 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 14
    • 0021344005 scopus 로고
    • Easy calculations of LOD score and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of LOD score and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 17
    • 0345701262 scopus 로고    scopus 로고
    • Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda
    • Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J (2003) Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol 120:351-355
    • (2003) J Invest Dermatol , vol.120 , pp. 351-355
    • Marrakchi, S.1    Audebert, S.2    Bouadjar, B.3    Has, C.4    Lefèvre, C.5    Munro, C.6    Cure, S.7    Jobard, F.8    Morlot, S.9    Hohl, D.10    Prud'homme, J.F.11    Zahaf, A.12    Turki, H.13    Fischer, J.14
  • 18
    • 0035030647 scopus 로고    scopus 로고
    • Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda
    • Patel H, Nardelli M, Fenn T, Houlston R, Coonar A, Patton MA, Crosby AH (2001) Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda. Br J Dermatol 144:731-734
    • (2001) Br J Dermatol , vol.144 , pp. 731-734
    • Patel, H.1    Nardelli, M.2    Fenn, T.3    Houlston, R.4    Coonar, A.5    Patton, M.A.6    Crosby, A.H.7
  • 21
    • 0023146009 scopus 로고
    • Kératodermie palmoplantaire type Meleda à propos de dix neufs cas
    • Zahaf A, Charfi C, Baklouti A (1987) Kératodermie palmoplantaire type Meleda à propos de dix neufs cas. Sem Hôp Paris 63:1043-1046
    • (1987) Sem Hôp Paris , vol.63 , pp. 1043-1046
    • Zahaf, A.1    Charfi, C.2    Baklouti, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.