Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.

@article{Batlle2015MolecularAC,
  title={Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.},
  author={Javier Batlle and Almudena P{\'e}rez-Rodr{\'i}guez and Irene Lara Corrales and Mar{\'i}a Fernanda L{\'o}pez-Fern{\'a}ndez and {\'A}ngela Rodr{\'i}guez-Trillo and Esther Lour{\'e}s and Ana R Cid and Santiago Bonanad and Noelia Cabrera and Andr{\'e}s Emilio Arcia Moret and Rafael Parra and M E Mingot-Castellano and Ignacia Balda and Carmen Altisent and Roc{\'i}o P{\'e}rez-Montes and Rosa Mar{\'i}a Fisac and Gemma Iru{\'i}n and Sonia Panadero Herrero and I Soto and Beatriz de Rueda and Victor Jim{\'e}nez-Yuste and Nieves Fern{\'a}ndez Alonso and Dolores Montero Vilari{\~n}o and Olga Arija and Rodrigo Campos and Mar{\'i}a Jos{\'e} Paloma and N. Moreno Bermejo and Teresa Toll and Jos{\'e} Mateo and Karmele Arribalzaga and Pichierri Marco and {\'A}. Santos Palomo and Lizheidy Sarmiento and Bel{\'e}n Castro {\'I}{\~n}igo and Mar{\'i}a del Mar Castilla Nieto and Rosa Vidal and Mar{\'i}a Purificaci{\'o}n L{\'o}pez Mart{\'i}nez and Reyes Aguinaco and Jes{\'u}s Mar{\'i}a C{\'e}sar and Maria Soledad Ferreiro and Javier Garc{\'i}a-Frade and Ana Mar{\'i}a Rodr{\'i}guez-Huerta and Jorge Luis Guti{\'e}rrez Cuesta and Ram{\'o}n Rodr{\'i}guez-Gonz{\'a}lez and Faustino Garc{\'i}a-Candel and Rosa Cornudella and Carlos Alberto Prado Aguilar and Nina Borr{\`a}s and Francisco Vidal},
  journal={Thrombosis and haemostasis},
  year={2015},
  volume={115 1},
  pages={
          40-50
        }
}
The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion of patients. A Spanish multicentre study investigated a cohort of 556 patients from 330 families who were analysed centrally. VWD was confirmed in 480. Next generation sequencing (NGS) of the whole coding VWF was carried out in all recruited patients, compared with the phenotype, and a final diagnosis established. A total of 238 different VWF mutations were found, 154 were not included in the Leiden Open… CONTINUE READING
2
Twitter Mentions

Citations

Publications citing this paper.
SHOWING 1-10 OF 14 CITATIONS

Fifth Åland Island conference on von Willebrand disease.

  • Haemophilia : the official journal of the World Federation of Hemophilia
  • 2018

Von Willebrand disease: Clinical conundrums.

  • Haemophilia : the official journal of the World Federation of Hemophilia
  • 2018

Molecular diagnosis of von Willebrand disease.

  • Haemophilia : the official journal of the World Federation of Hemophilia
  • 2017

References

Publications referenced by this paper.
SHOWING 1-10 OF 10 REFERENCES

von Willebrand disease and aging: an evolving phenotype.

  • Journal of thrombosis and haemostasis : JTH
  • 2014
VIEW 2 EXCERPTS

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

Catherine Dehainault, Dorothée Michaux, +8 authors Claude Houdayer
  • European Journal of Human Genetics
  • 2007
VIEW 1 EXCERPT