scholarly journals Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease

Haematologica ◽  
2009 ◽  
Vol 94 (5) ◽  
pp. 610-615 ◽  
Author(s):  
A. B Federici ◽  
M. T. Canciani
2006 ◽  
Vol 55 (1-6) ◽  
pp. 123-134 ◽  
Author(s):  
L. E. Pâques ◽  
G. Philippe ◽  
D. Prat

Abstract Open-pollinated hybridisation seed orchards of European and Japanese larches produce mixed progenies combining a highly variable proportion of hybrids along with pure parental species. For several reasons, it is desirable to identify and to sort out hybrids from pure species at the seedling stage. Taxa identification of 1-2 yr-old seedlings was attempted using non-destructive assessment of several traits, including morphology, phenology, growth and architecture parameters. Two sets of progenies originating from 10 open-pollinated hybridisation seed orchards were used, relying in a first step on taxa identification of individual seedlings with diagnostic molecular markers. Based on 21 traits assessed, some clear trends in pure species and hybrid features were apparent but due to the large and overlapping ranges of taxa characteristics, no single parameter allowed unambiguous identification of taxa. Combination of traits through linear discriminant analysis made possible correct classification of 90.2% to 98.6% of individuals depending on the orchard although there were a few problematic orchards. Two traits appeared particularly pertinent for discriminating young plants taxa, namely 1st-yr leaf retention (marcescence) and the bark colour of 2nd-year shoot increments. Results were corroborated using progenies from several orchards and over two experimental periods.


2001 ◽  
Vol 14 (2) ◽  
pp. 281-298 ◽  
Author(s):  
Reinhard Schneppenheim ◽  
Ulrich Budde ◽  
Zaverio M. Ruggeri

Haemophilia ◽  
1999 ◽  
Vol 5 (s2) ◽  
pp. 46-49 ◽  
Author(s):  
L. Holmberg ◽  
S. Lethagen

1994 ◽  
Vol 71 (04) ◽  
pp. 520-525 ◽  
Author(s):  
J Evan Sadler

SummaryA simplified phenotypic classification of von Willebrand disease is proposed that is based on differences in pathophysiology. Quantitative defects arc divided into partial deficiency (type 1) and severe deficiency (type 3). Qualitative defects (type 2) are divided into four subcategories. Type 2A refers to variants with decreased platelet-dependent function associated with the loss of high-molecular weight VWF multimers. Type 2B refers to variants with increased affinity for platelet glycoprotein lb. Type 2M refers to qualitatively abnormal variants with decreased platelet-dependent function not associated with the loss of high-molecular weight multimers. Type 2N refers to variants with decreased affinity for factor VIII. When recognized, mixed phenotypes caused by compound heterozygosity are indicated by separate classification of each allele. Standard amino acid and nucleotide numbering schemes are recommended for the description of mutations.


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