메뉴 건너뛰기




Volumn 97, Issue 4, 2012, Pages

The endemic paraganglioma syndrome type 1: Origin, spread, and clinical expression

(21)  Schiavi, Francesca a   Demattè, Serena b   Cecchini, Maria Enrica b   Taschin, Elisa a   Bobisse, Sara a   Del Piano, Antonella b   Donner, Davide b   Barbareschi, Mattia b   Manera, Vittorio c   Zovato, Stefania a   Erlic, Zoran d   Savvoukidis, Theodoros e   Barollo, Susi f,k   Grego, Franco k   Trabalzini, Franco g   Amistà, Pietro h   Grandi, Cesare b   Branz, Fabio b   Marroni, Fabio i   Neumann, Hartmut P H j   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYSTEINE; GUANINE; TYROSINE;

EID: 84859534175     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2597     Document Type: Article
Times cited : (25)

References (20)
  • 1
    • 56049122457 scopus 로고    scopus 로고
    • Clinical and molecular progress in hereditary paraganglioma
    • Baysal BE 2008 Clinical and molecular progress in hereditary paraganglioma. J Med Genet 45:689-694
    • (2008) J Med Genet , vol.45 , pp. 689-694
    • Baysal, B.E.1
  • 2
    • 0036712593 scopus 로고    scopus 로고
    • Hereditary paraganglioma targets diverse paraganglia
    • Baysal BE 2002 Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39:617-622 (Pubitemid 35001714)
    • (2002) Journal of Medical Genetics , vol.39 , Issue.9 , pp. 617-622
    • Baysal, B.E.1
  • 5
    • 0035874016 scopus 로고    scopus 로고
    • Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
    • DOI 10.1002/ajmg.1270
    • Milunsky JM, Maher TA, Michels VV, Milunsky A 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100:311-314 (Pubitemid 32382404)
    • (2001) American Journal of Medical Genetics , vol.100 , Issue.4 , pp. 311-314
    • Milunsky, J.M.1    Maher, T.A.2    Michels, V.V.3    Milunsky, A.4
  • 12
    • 37349030767 scopus 로고    scopus 로고
    • Systematic screening and treatment evaluation of hereditary neck paragangliomas
    • DOI 10.1002/hed.20638
    • Fish JH, Klein-Weigel P, Biebl M, Janecke A, Tauscher T, Fraedrich G 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas. Head Neck 29:864-873 (Pubitemid 350303675)
    • (2007) Head and Neck , vol.29 , Issue.9 , pp. 864-873
    • Fish III, J.H.1    Klein-Weigel, P.2    Biebl, M.3    Janecke, A.4    Tauscher, T.5    Fraedrich, G.6
  • 14
    • 66849143816 scopus 로고    scopus 로고
    • SDH mutations in tumorigenesis and inherited endocrine tumours: Lesson from the phaeochromocytoma-paraganglioma syndromes
    • Pasini B, Stratakis CA 2009 SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med 266:19-42
    • (2009) J Intern Med , vol.266 , pp. 19-42
    • Pasini, B.1    Stratakis, C.A.2
  • 20
    • 0042566135 scopus 로고    scopus 로고
    • Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect
    • DOI 10.1007/s00439-003-0969-6
    • Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet 113:228-237 (Pubitemid 36992281)
    • (2003) Human Genetics , vol.113 , Issue.3 , pp. 228-237
    • Astrom, K.1    Cohen, J.E.2    Willett-Brozick, J.E.3    Aston, C.E.4    Baysal, B.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.