The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
about
The Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewMild hemophilia A.Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.High rate of spontaneous inhibitor clearance during the long term observation study of a single cohort of 524 haemophilia A patients not undergoing immunotolerance.Recombinant factor VIII in the management of hemophilia A: current use and future promise.Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia A.Is haemophilia B less severe than haemophilia A?Inhibitors in haemophilia: what have we learned from registries? A systematic review.Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.Violating the theory of single gene-single disorder: inhibitor development in hemophiliaRegistry-based outcome assessment in haemophilia: a scoping study to explore the available evidence.Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.Characterization of four novel molecular changes in the promoter region of the factor VIII gene.Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.Haemophilia B is clinically less severe than haemophilia A: further evidence.Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients.Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.Pharmacokinetics, phenotype and product choice in haemophilia B: how to strike a balance?Deep intronic variations may cause mild hemophilia A.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Recombinant factor VIII Fc fusion protein for the prevention and treatment of bleeding in children with severe hemophilia A.Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.Population pharmacokinetics of recombinant factor VIII Fc fusion protein.Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management.
P2860
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P2860
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@en
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@nl
type
label
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@en
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@nl
prefLabel
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@en
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@nl
P2093
P50
P356
P1433
P1476
The Italian AICE-Genetics hemo ...... ation with clinical phenotype.
@en
P2093
AICE-Genetics Study Group
Angiola Rocino
Anna Rita Tagliaferri
Elena Santagostino
Elvira Grandone
Ezio Zanon
Francesca Torricelli
Giancarlo Castaman
Giuseppe Tagariello
Maria Patrizia Bicocchi
P304
P356
10.3324/HAEMATOL.12427
P577
2008-04-02T00:00:00Z