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Volumn 65, Issue 3, 1999, Pages 917-921

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation [3]

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

EID: 0033364732     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302545     Document Type: Letter
Times cited : (25)

References (26)
  • 2
    • 0033558206 scopus 로고    scopus 로고
    • Revised genomic organization of FBN1 and significance for regulated gene expression
    • NJ Biery ZA Eldadah CS Moore G Stetten F Spencer HC Dietz Revised genomic organization of FBN1 and significance for regulated gene expression Genomics 56 1999 70 77
    • (1999) Genomics , vol.56 , pp. 70-77
    • Biery, NJ1    Eldadah, ZA2    Moore, CS3    Stetten, G4    Spencer, F5    Dietz, HC6
  • 4
    • 0029983276 scopus 로고    scopus 로고
    • Software and database for the analysis of mutations in the human FBN1 gene
    • G Collod C Béroud T Soussi C Junien C Boileau Software and database for the analysis of mutations in the human FBN1 gene Nucleic Acids Res 24 1996 137 140
    • (1996) Nucleic Acids Res , vol.24 , pp. 137-140
    • Collod, G1    Béroud, C2    Soussi, T3    Junien, C4    Boileau, C5
  • 5
    • 1842336810 scopus 로고    scopus 로고
    • Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
    • G Collod-Béroud C Béroud L Adès C Black M Boxer DJ Brock M Godfrey Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene Nucleic Acids Res 25 1997 147 150
    • (1997) Nucleic Acids Res , vol.25 , pp. 147-150
    • Collod-Béroud, G1    Béroud, C2    Adès, L3    Black, C4    Boxer, M5    Brock, DJ6    Godfrey, M7
  • 7
    • 0027257818 scopus 로고
    • Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end
    • GM Corson SC Chalberg HC Dietz NL Charbonneau LS Sakai Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end Genomics 17 1993 476 484
    • (1993) Genomics , vol.17 , pp. 476-484
    • Corson, GM1    Chalberg, SC2    Dietz, HC3    Charbonneau, NL4    Sakai, LS5
  • 10
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • H Dietz I McIntosh L Sakai G Corson S Chalberg R Pyeritz C Francomano Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome Genomics 17 1993 468 475
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H1    McIntosh, I2    Sakai, L3    Corson, G4    Chalberg, S5    Pyeritz, R6    Francomano, C7
  • 12
    • 0025275399 scopus 로고
    • Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families
    • M Godfrey V Menashe RG Weleber D Koler RH Bigley E Lovrien J Zonana Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families Am J Hum Genet 46 1990 652 660
    • (1990) Am J Hum Genet , vol.46 , pp. 652-660
    • Godfrey, M1    Menashe, V2    Weleber, RG3    Koler, D4    Bigley, RH5    Lovrien, E6    Zonana, J7
  • 13
    • 0027942376 scopus 로고
    • A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
    • C Hayward ME Porteous DJ Brock A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly Mol Cell Probes 8 1994 325 327
    • (1994) Mol Cell Probes , vol.8 , pp. 325-327
    • Hayward, C1    Porteous, ME2    Brock, DJ3
  • 15
    • 0025335330 scopus 로고
    • Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
    • DW Hollister M Godfrey L Sakai Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome N Engl J Med 323 1990 152 159
    • (1990) N Engl J Med , vol.323 , pp. 152-159
    • Hollister, DW1    Godfrey, M2    Sakai, L3
  • 16
    • 0028335388 scopus 로고
    • Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
    • K Kainulainen L Karttunen L Puhakka L Sakai L Peltonen Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome Nat Genet 6 1994 64 69
    • (1994) Nat Genet , vol.6 , pp. 64-69
    • Kainulainen, K1    Karttunen, L2    Puhakka, L3    Sakai, L4    Peltonen, L5
  • 18
    • 0026002215 scopus 로고
    • Localisation of the fibrillin (FBN) gene to chromosome 15, band q21.1
    • RE Magenis CL Maslen L Smith Localisation of the fibrillin (FBN) gene to chromosome 15, band q21.1 Genomics 11 1991 346 351
    • (1991) Genomics , vol.11 , pp. 346-351
    • Magenis, RE1    Maslen, CL2    Smith, L3
  • 19
    • 0026585419 scopus 로고
    • Marfan syndrome: defective synthesis, secretion, and extracellular matrix, formation of fibrillin by cultured dermal fibroblasts
    • D Milewicz RE Pyeritz ES Crawford P Byers Marfan syndrome: defective synthesis, secretion, and extracellular matrix, formation of fibrillin by cultured dermal fibroblasts J Clin Invest 89 1992 79 86
    • (1992) J Clin Invest , vol.89 , pp. 79-86
    • Milewicz, D1    Pyeritz, RE2    Crawford, ES3    Byers, P4
  • 21
    • 0029052915 scopus 로고
    • Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
    • G Nijbroek S Sood I McIntosh CA Francomano E Bull L Pereira F Ramirez Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons Am J Hum Genet 57 1995 8 21
    • (1995) Am J Hum Genet , vol.57 , pp. 8-21
    • Nijbroek, G1    Sood, S2    McIntosh, I3    Francomano, CA4    Bull, E5    Pereira, L6    Ramirez, F7
  • 22
    • 0027313286 scopus 로고
    • Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan Syndrome
    • L Pereira M D'Alesio F Ramirez JR Lynch B Sykes T Pangilian J Bonadio Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan Syndrome Hum Mol Genet 2 1993 961 968
    • (1993) Hum Mol Genet , vol.2 , pp. 961-968
    • Pereira, L1    D'Alesio, M2    Ramirez, F3    Lynch, JR4    Sykes, B5    Pangilian, T6    Bonadio, J7
  • 23
    • 0018393854 scopus 로고
    • Marfan syndrome: diagnosis and management
    • RE Pyeritz VA McKusick Marfan syndrome: diagnosis and management N Engl J Med 300 1979 772 777
    • (1979) N Engl J Med , vol.300 , pp. 772-777
    • Pyeritz, RE1    McKusick, VA2
  • 24
    • 0343022274 scopus 로고    scopus 로고
    • Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation
    • T Rantamaki I Kaitila AC Syvanen M Lukka L Peltonen Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation Am J Hum Genet 64 1999 993 1001
    • (1999) Am J Hum Genet , vol.64 , pp. 993-1001
    • Rantamaki, T1    Kaitila, I2    Syvanen, AC3    Lukka, M4    Peltonen, L5
  • 25
    • 0023002893 scopus 로고
    • Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
    • L Sakai DR Keene E Engvall Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils J Cell Biol 103 1986 2499 2509
    • (1986) J Cell Biol , vol.103 , pp. 2499-2509
    • Sakai, L1    Keene, DR2    Engvall, E3
  • 26
    • 0030020322 scopus 로고    scopus 로고
    • Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
    • S Sood ZA Eldadah WL Krauss I McIntosh HC Dietz Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome Nat Genet 12 1996 209 211
    • (1996) Nat Genet , vol.12 , pp. 209-211
    • Sood, S1    Eldadah, ZA2    Krauss, WL3    McIntosh, I4    Dietz, HC5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.