The rarer inherited coagulation disorders: A review

Blood Reviews

Volumn 9, Issue 2, 1995, Pages 65-76

  Bolton Maggs, P H B ^a   Hill, F G H ^b  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 7; BLOOD EXTRACT; HEMOPHILIA B LEYDEN; PROTHROMBIN COMPLEX; UNCLASSIFIED DRUG;

ADOLESCENT; BERNARD SOULIER DISEASE; BLEEDING DISORDER; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CHILD; FEMALE; GENETIC COUNSELING; GLANZMANN DISEASE; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SCREENING TEST; THROMBOCYTE ANOMALY; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; VON WILLEBRAND DISEASE; WISKOTT ALDRICH SYNDROME;

BLOOD COAGULATION DISORDERS; HUMAN;

EID: 0029013354     PISSN: 0268960X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0268-960X(95)90027-6     Document Type: Article

References (64)

1. Another genetic variant of haemophilia B: haemophilia B Leyden
2. Hemophilia B Leyden-a sex-linked hereditary disorder that improves after puberty
3. The putative factor IX gene promoter in hemophilia B Leyden
4. Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (Hemophilia B Leyden phenotype)
5. Haemophilia B: database of point mutations and short additions and deletions-third edition
6. Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A in the factor IX promoter
7. The high frequency of a -6 G to A factor IX promoter mutation is the result both of a founder effect and recurrent mutatioin at a CpG dinucleotide
8. First report on UK database of haemophilia B mutations and pedigrees
9. New hemophilialike disease caused by deficiency of a third plasma thromboplastin factor
10. Factor XI deficiency
11. Plasma Thromboplastin antecedent (PTA) deficiency
12. Spontaneous haemorrhages caused by plasma thromboplastin antecedent deficiency
13. Plasma thromboplastin antecedent deficiency and subarachnoid haemorrhage
14. Spontaneous spinal epidural hematoma, Brown-Sequard syndrome, and factor XI deficiency
15. Inheritance and bleeding in factor XI deficiency
16. Definition of the bleeding tendency in factor XI deficient kindreds: a clinical and laboratory study
17. Heredity and coagulation studies in ten families with factor XI (Plasma thromboplastin antecedent) deficiency
18. The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis
19. Factor XI deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
20. Factor XI deficiency in Ashkenazy Jews in Israel
21. A molecular genetic study of factor XI deficiency
22. Genetic analysis of 27 kindreds with factor XI deficiency from North West England
23. Identification and characterisation of mutations in the factor XI gene of nonJewish factor XI deficient patients
24. Characterisation of a fourth mutation causing factor XI deficiency in AshkenaziJews
25. Production and therapeutic use of a factor XI concentrate from plasma
26. Clinical experiences of a FXI concentrate: Possible side effects
27. Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients
28. Thrombogenic potential of factor XI concentrate
29. Dental surgery in patients with severe factor XI deficiency without plasma replacement
30. The role of factor XI in coagulation
31. Factor XII activity and antigen in patients suffering from recurrent thrombosis
32. Thromboembolism and bleeding tendency in congenital factor XII deficiency-a study on 74 subjects from 14 Swiss families
33. The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thromboembolism
34. The prevalence of moderate and severe FXII (Hageman Factor) deficiency among the normal population: evaluation of the incidence of FXII deficiency among 300 healthy blood donors
35. John Hageman's factor and deep-vein thrombosis: Leiden Thrombophilia Study
36. Factor VII
37. Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analyses
38. Factor X.
39. A new congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli)
40. Molecular defect in coagulation factor X Friuli results from a substitution of serine for proline at position 343
41. Sur une nouvelle observation de dystrophie thrombocytaire hemorragipare congenitale
42. History of congenital hemorrhagic thrombocytopathic dystrophy
43. Variation in surface platelet glycoprotein Ib expression in Bernard-Soulier syndrome
44. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
45. Use of DDAVP in Inherited and acquired platelet dysfunction
46. DDAVP shortens the bleeding time in Bernard-Soulier syndrome
47. BernardSoulier syndrome in two Swedish families: effect of DDAVP on bleeding time
48. Inherited disorders of the platelet membrane: Glanzmann's thrombasthenia and BernardSoulier syndrome
49. Puberty menorrhagia due to Bernard Soulier syndrome and its successful treatment by ‘Ovral’ hormonal tablets
50. Bernard-Soulier syndrome in pregnancy; a report of four pregnancies in one patient, and review of the literature
51. Platelet membrane proteins
52. Glanzmann's thrombasthenia: the spectrum of clinical disease
53. Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease
54. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia
55. Gravidanze e parto in primigravida affetta da tromboastenia di Glanzmann
56. Bone Marrow Transplantation (BMT) in Europe for primary immunodeficiencies for BMT and the European Group for Immunodeficiency
57. The WiskottAldrich syndrome in the United States and Canada (1892–1979)
58. Wiskott-Aldrich syndrome: new perspectives in pathogeneis and management
59. Splenectomy and/or bone marrow transplantation in the management of WiskottAldrich syndrome: long-term follow-up of 62 cases
60. Sialophorin (CD43) and the Wiskott-Aldrich syndrome
61. Selective impairment of CD43-mediated T-cell activation in the Wiskott-Aldrich syndrome
62. The Wiskott-Aldrich syndrome
63. The UDP-galactose translocator gene is mapped to band Xpl1.23-p11.22 containing the Wiskott-Aldrich syndrome locus