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Volumn 129, Issue 1, 1996, Pages 50-55

Wiskott-Aldrich syndrome in a family with Fanconi anemia

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DISEASE ASSOCIATION; EPSTEIN BARR VIRUS; FANCONI ANEMIA; FRAMESHIFT MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; STOP CODON; THROMBOCYTOPENIA; VIRUS TRANSFORMATION; WISKOTT ALDRICH SYNDROME; X CHROMOSOME INACTIVATION;

EID: 0029798641     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(96)70189-0     Document Type: Article
Times cited : (7)

References (25)
  • 1
    • 0000788042 scopus 로고
    • Familiarer, angeborener Morbus Werlhofii?
    • A. Wiskott Familiarer, angeborener Morbus Werlhofii? Monatsschrift Kinderheilkunde 68 1937 212 216
    • (1937) Monatsschrift Kinderheilkunde , vol.68 , pp. 212-216
    • Wiskott, A.1
  • 2
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • RA Aldrich AG Steinberg DC. Campbell Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea Pediatrics 73 1954 133 139
    • (1954) Pediatrics , vol.73 , pp. 133-139
    • Aldrich, RA1    Steinberg, AG2    Campbell, DC.3
  • 3
    • 0018932524 scopus 로고
    • The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979)
    • GS Perry BD Spector LM Schuman The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979) J Pediatr 97 1980 72 78
    • (1980) J Pediatr , vol.97 , pp. 72-78
    • Perry, GS1    Spector, BD2    Schuman, LM3
  • 4
    • 0028116532 scopus 로고
    • A multiinstitutional survey of the Wiskott-Aldrich syndrome
    • KE Sullivan CA Mullen RM Blaese JA. Winkelstein A multiinstitutional survey of the Wiskott-Aldrich syndrome J Pediatr 125 1994 876 885
    • (1994) J Pediatr , vol.125 , pp. 876-885
    • Sullivan, KE1    Mullen, CA2    Blaese, RM3    Winkelstein, JA.4
  • 5
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • JM Derry HD Ochs U. Francke Isolation of a novel gene mutated in Wiskott-Aldrich syndrome Cell 78 1994 635 644
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, JM1    Ochs, HD2    Francke, U.3
  • 6
    • 0028937177 scopus 로고
    • X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
    • A Villa L Notarangelo P Macchi E Mantuano G Cavagni D Brugnoni X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene Nature Genet 9 1995 414 417
    • (1995) Nature Genet , vol.9 , pp. 414-417
    • Villa, A1    Notarangelo, L2    Macchi, P3    Mantuano, E4    Cavagni, G5    Brugnoni, D6
  • 7
    • 0029074506 scopus 로고
    • Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene
    • S-P Kwan TL Hagemann BE Radtke RM Blaese FS. Rosen Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene Proc Natl Acad Sci USA 92 1995 4706 4710
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 4706-4710
    • Kwan, S-P1    Hagemann, TL2    Radtke, BE3    Blaese, RM4    Rosen, FS.5
  • 8
    • 0014112634 scopus 로고
    • Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects
    • G. Fanconi Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects Semin Hematol 4 1967 233 240
    • (1967) Semin Hematol , vol.4 , pp. 233-240
    • Fanconi, G.1
  • 9
    • 0028068579 scopus 로고
    • Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study
    • A Butturini RP Gale PC Verlander B Adler-Brecher AP Gillio AD. Auerbach Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study Blood 84 1994 1650 1655
    • (1994) Blood , vol.84 , pp. 1650-1655
    • Butturini, A1    Gale, RP2    Verlander, PC3    Adler-Brecher, B4    Gillio, AP5    Auerbach, AD.6
  • 10
    • 0027298257 scopus 로고
    • The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry
    • PF Giampietro B Adler-Brecher PC Verlander SG Pavlakis JG Davis AD. Auerbach The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry Pediatrics 91 1993 1116 1120
    • (1993) Pediatrics , vol.91 , pp. 1116-1120
    • Giampietro, PF1    Adler-Brecher, B2    Verlander, PC3    Pavlakis, SG4    Davis, JG5    Auerbach, AD.6
  • 11
    • 0024543636 scopus 로고
    • International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity
    • AD Auerbach A Rogatko TM. Schroeder-Kurth International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity Blood 73 1989 391 396
    • (1989) Blood , vol.73 , pp. 391-396
    • Auerbach, AD1    Rogatko, A2    Schroeder-Kurth, TM.3
  • 12
    • 0026878842 scopus 로고
    • Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
    • CA Strathdee AMV Duncan M. Buchwald Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9 Nature Genet 1 1992 196 198
    • (1992) Nature Genet , vol.1 , pp. 196-198
    • Strathdee, CA1    Duncan, AMV2    Buchwald, M.3
  • 13
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • CA Strathdee H Gavish WR Shannon M. Buchwald Cloning of cDNAs for Fanconi's anaemia by functional complementation Nature 356 1992 763 767
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, CA1    Gavish, H2    Shannon, WR3    Buchwald, M.4
  • 15
    • 0015216178 scopus 로고
    • Fanconi's anaemia in the genetics of neoplasia
    • M. Swift Fanconi's anaemia in the genetics of neoplasia Nature 230 1971 370 373
    • (1971) Nature , vol.230 , pp. 370-373
    • Swift, M.1
  • 16
    • 0025341306 scopus 로고
    • Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation
    • JM Puck KA Siminovitch M Poncz CR Greenberg M Rottem ME. Conley Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation Blood 75 1990 2369 2374
    • (1990) Blood , vol.75 , pp. 2369-2374
    • Puck, JM1    Siminovitch, KA2    Poncz, M3    Greenberg, CR4    Rottem, M5    Conley, ME.6
  • 17
    • 0028137136 scopus 로고
    • Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
    • ME Conley ME Fitch-Hilgenberg JL Cleveland O Parolini J. Rohrer Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase Hum Mol Genet 3 1994 1751 1756
    • (1994) Hum Mol Genet , vol.3 , pp. 1751-1756
    • Conley, ME1    Fitch-Hilgenberg, ME2    Cleveland, JL3    Parolini, O4    Rohrer, J.5
  • 18
    • 0018906286 scopus 로고
    • Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier
    • WJ Gealy JM Dwyer JB. Harley Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier Lancet 1 1980 63 65
    • (1980) Lancet , vol.1 , pp. 63-65
    • Gealy, WJ1    Dwyer, JM2    Harley, JB.3
  • 19
    • 0019212580 scopus 로고
    • Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection
    • JT Prchal AJ Carroll JF Prchal WM Crist HW Skalka WJ Gealy Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection Blood 56 1980 104854
    • (1980) Blood , vol.56 , pp. 104854
    • Prchal, JT1    Carroll, AJ2    Prchal, JF3    Crist, WM4    Skalka, HW5    Gealy, WJ6
  • 20
    • 0023192321 scopus 로고
    • Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome
    • M Peacocke KA. Siminovitch Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome Proc Natl Acad Sci USA 84 1987 3430 3433
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 3430-3433
    • Peacocke, M1    Siminovitch, KA.2
  • 21
    • 0025847314 scopus 로고
    • Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3
    • S Kwan T Lehner T Hagemann Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3 Genomics 10 1991 29 33
    • (1991) Genomics , vol.10 , pp. 29-33
    • Kwan, S1    Lehner, T2    Hagemann, T3
  • 22
    • 0024267689 scopus 로고
    • Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome
    • M Donner M Schwartz KU Carlsson L. Holmberg Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome Blood 72 1988 1849 1853
    • (1988) Blood , vol.72 , pp. 1849-1853
    • Donner, M1    Schwartz, M2    Carlsson, KU3    Holmberg, L.4
  • 23
    • 0025988652 scopus 로고
    • X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers
    • G de Saint-Basile N Schlegel M Caniglia X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers Ann Hematol 63 1991 107 110
    • (1991) Ann Hematol , vol.63 , pp. 107-110
    • de Saint-Basile, G1    Schlegel, N2    Caniglia, M3
  • 24
    • 0026506370 scopus 로고
    • β-Globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability
    • SJ Baserga EJ. Benz β-Globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability Proc Natl Acad Sci USA 89 1992 2935 2939
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2935-2939
    • Baserga, SJ1    Benz, EJ.2
  • 25
    • 0027977842 scopus 로고
    • Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells
    • GM Segal RE Magenis M Brown W Keeble TD Smith MC Heinrich Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells J Clin Invest 94 1994 846 852
    • (1994) J Clin Invest , vol.94 , pp. 846-852
    • Segal, GM1    Magenis, RE2    Brown, M3    Keeble, W4    Smith, TD5    Heinrich, MC6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.