메뉴 건너뛰기




Volumn 18, Issue 3, 2012, Pages

Correlating clinical manifestations with factor levels in rare bleeding disorders: A report from Southern India

Author keywords

Clinical manifestations; India; Rare bleeding disorders

Indexed keywords

BLOOD CLOTTING FACTOR;

EID: 84860343155     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02730.x     Document Type: Article
Times cited : (32)

References (28)
  • 3
    • 4444269047 scopus 로고    scopus 로고
    • Recessively inherited coagulation disorders
    • Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
    • (2004) Blood , vol.104 , pp. 1243-1252
    • Mannucci, P.M.1    Duga, S.2    Peyvandi, F.3
  • 4
    • 4444364103 scopus 로고    scopus 로고
    • Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias
    • Acharya SS, Coughlin A, Dimichele DM. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-56.
    • (2004) J Thromb Haemost , vol.2 , pp. 248-256
    • Acharya, S.S.1    Coughlin, A.2    Dimichele, D.M.3
  • 5
    • 4844229372 scopus 로고    scopus 로고
    • The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
    • Bolton-Maggs PH, Perry DJ, Chalmers EA et al. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 593-628.
    • (2004) Haemophilia , vol.10 , pp. 593-628
    • Bolton-Maggs, P.H.1    Perry, D.J.2    Chalmers, E.A.3
  • 6
    • 0031881892 scopus 로고    scopus 로고
    • Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII
    • Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998; 100: 773-6.
    • (1998) Br J Haematol , vol.100 , pp. 773-776
    • Peyvandi, F.1    Tuddenham, E.G.2    Akhtari, A.M.3    Lak, M.4    Mannucci, P.M.5
  • 8
    • 0343603909 scopus 로고    scopus 로고
    • Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia
    • Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107: 204-6.
    • (1999) Br J Haematol , vol.107 , pp. 204-206
    • Lak, M.1    Keihani, M.2    Elahi, F.3    Peyvandi, F.4    Mannucci, P.M.5
  • 9
    • 33745232327 scopus 로고    scopus 로고
    • Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia
    • Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost 2006; 4: 1634-7.
    • (2006) J Thromb Haemost , vol.4 , pp. 1634-1637
    • Peyvandi, F.1    Haertel, S.2    Knaub, S.3    Mannucci, P.M.4
  • 10
    • 0032442129 scopus 로고    scopus 로고
    • Symptoms of inherited factor V deficiency in 35 Iranian patients
    • Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol 1998; 103: 1067-9.
    • (1998) Br J Haematol , vol.103 , pp. 1067-1069
    • Lak, M.1    Sharifian, R.2    Peyvandi, F.3    Mannucci, P.M.4
  • 11
    • 77950202755 scopus 로고    scopus 로고
    • Haemorrhagic manifestations and prevalence of factor V deficiency in north-eastern Iran
    • Mansouritorghabeh H, Manavifar L, Mobalegh A, Shirdel A. Haemorrhagic manifestations and prevalence of factor V deficiency in north-eastern Iran. Haemophilia 2010; 16: 376-80.
    • (2010) Haemophilia , vol.16 , pp. 376-380
    • Mansouritorghabeh, H.1    Manavifar, L.2    Mobalegh, A.3    Shirdel, A.4
  • 12
    • 11044234346 scopus 로고    scopus 로고
    • Clinical picture and management of congenital factor VII deficiency
    • Mariani G, Dolce A, Marchetti G, Bernardi F. Clinical picture and management of congenital factor VII deficiency. Haemophilia 2004; 10(Suppl. 4): 180-3.
    • (2004) Haemophilia , vol.10 , Issue.SUPPL. 4 , pp. 180-183
    • Mariani, G.1    Dolce, A.2    Marchetti, G.3    Bernardi, F.4
  • 13
    • 63049094038 scopus 로고    scopus 로고
    • Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene
    • Herrmann FH, Wulff K, Auerswald G et al. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 2009; 15: 267-80.
    • (2009) Haemophilia , vol.15 , pp. 267-280
    • Herrmann, F.H.1    Wulff, K.2    Auerswald, G.3
  • 14
    • 33747168208 scopus 로고    scopus 로고
    • Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene
    • Herrmann FH, Auerswald G, Ruiz-Saez A et al. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia 2006; 12: 479-89.
    • (2006) Haemophilia , vol.12 , pp. 479-489
    • Herrmann, F.H.1    Auerswald, G.2    Ruiz-Saez, A.3
  • 15
    • 0031848372 scopus 로고    scopus 로고
    • Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients
    • Peyvandi F, Mannucci PM, Lak M et al. Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. Br J Haematol 1998; 102: 626-8.
    • (1998) Br J Haematol , vol.102 , pp. 626-628
    • Peyvandi, F.1    Mannucci, P.M.2    Lak, M.3
  • 17
    • 0020322169 scopus 로고
    • Combined factor V and factor VIII deficiency among non-Ashkenazi Jews
    • Seligsohn U, Zivelin A, Zwang E. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 1982; 307: 1191-5.
    • (1982) N Engl J Med , vol.307 , pp. 1191-1195
    • Seligsohn, U.1    Zivelin, A.2    Zwang, E.3
  • 18
    • 2342653511 scopus 로고    scopus 로고
    • Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran
    • Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, Rezai J, Esamaili H. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia 2004; 10: 271-5.
    • (2004) Haemophilia , vol.10 , pp. 271-275
    • Mansouritorgabeh, H.1    Rezaieyazdi, Z.2    Pourfathollah, A.A.3    Rezai, J.4    Esamaili, H.5
  • 19
    • 55949088269 scopus 로고    scopus 로고
    • Factor XIII deficiency
    • Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008; 14: 1190-200.
    • (2008) Haemophilia , vol.14 , pp. 1190-1200
    • Hsieh, L.1    Nugent, D.2
  • 21
    • 2142649140 scopus 로고    scopus 로고
    • Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency
    • Lak M, Peyvandi F, Ali SharifianA, Karimi K, Mannucci PM. Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. J Thromb Haemost 2003; 1: 1852-3.
    • (2003) J Thromb Haemost , vol.1 , pp. 1852-1853
    • Lak, M.1    Peyvandi, F.2    Ali, S.3    Karimi, K.4    Mannucci, P.M.5
  • 22
    • 34548792820 scopus 로고    scopus 로고
    • Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients
    • Jayandharan GR, Viswabandya A, Nair SC, Chandy M, Srivastava A. Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. Haematologica 2007; 92: 1002-3.
    • (2007) Haematologica , vol.92 , pp. 1002-1003
    • Jayandharan, G.R.1    Viswabandya, A.2    Nair, S.C.3    Chandy, M.4    Srivastava, A.5
  • 23
    • 34447293733 scopus 로고    scopus 로고
    • Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India
    • Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, Peyvandi F. Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India. Haemophilia 2007; 13: 413-9.
    • (2007) Haemophilia , vol.13 , pp. 413-419
    • Jayandharan, G.1    Spreafico, M.2    Viswabandya, A.3    Chandy, M.4    Srivastava, A.5    Peyvandi, F.6
  • 24
    • 33645535436 scopus 로고    scopus 로고
    • Mutations in coagulation factor XIII A gene in eight unrelated Indians Five novel mutations identified by a novel PCR-CSGE approach
    • Jayandharan GR, Viswabandya A, Baidya S et al. Mutations in coagulation factor XIII A gene in eight unrelated Indians Five novel mutations identified by a novel PCR-CSGE approach. Thromb Haemost 2006; 95: 551-6.
    • (2006) Thromb Haemost , vol.95 , pp. 551-556
    • Jayandharan, G.R.1    Viswabandya, A.2    Baidya, S.3
  • 25
    • 27144448063 scopus 로고    scopus 로고
    • Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
    • Jayandharan GR, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A. Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India. Thromb Haemost 2005; 94: 883-6.
    • (2005) Thromb Haemost , vol.94 , pp. 883-886
    • Jayandharan, G.R.1    Shaji, R.V.2    Baidya, S.3    Nair, S.C.4    Chandy, M.5    Srivastava, A.6
  • 26
    • 25144477047 scopus 로고    scopus 로고
    • Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T→G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin
    • Jayandharan G, Viswabandya A, Baidya S et al. Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T→G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. J Thromb Haemost 2005; 3: 1482-7.
    • (2005) J Thromb Haemost , vol.3 , pp. 1482-1487
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3
  • 27
    • 25144524061 scopus 로고    scopus 로고
    • Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362→Thr (Prothrombin Vellore 1) mutation
    • Jayandharan G, Viswabandya A, Baidya S et al. Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362→Thr (Prothrombin Vellore 1) mutation. J Thromb Haemost 2005; 3: 1446-53.
    • (2005) J Thromb Haemost , vol.3 , pp. 1446-1453
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3
  • 28
    • 23044484378 scopus 로고    scopus 로고
    • Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)
    • Jayandharan G, Shaji RV, Nair SC, Chandy M, Srivastava A. Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). J Thromb Haemost 2005; 3: 808-11.
    • (2005) J Thromb Haemost , vol.3 , pp. 808-811
    • Jayandharan, G.1    Shaji, R.V.2    Nair, S.C.3    Chandy, M.4    Srivastava, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.