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Functional genomics of human neurocristopathies: application to hischprung disease

Objectif

It is with great pleasure that I write a recommendation for Dr. Yolanda Espinosa Parrilla. Since January 1995 till July 2000, when she successfully defended her Ph.D. thesis, she has been working as a PhD student under my supervision in the Thrombophilia laboratory of the Medical and Molecular Genetics Center -IRO. The research project she was given when she arrived was the analysis of the molecular pathology associated with different type of inherited protein S deficiency and venous thromboembolic disease. After a short time in the laboratory it was clear to me that Yolanda had the aptitudes required to become a good scientist. She immediately grasped the concept of the research project and rapidly determined what was required for its successful implementation. Through her Ph D work, Yolanda Espinosa has obtained a good experience in molecular genetics analysis and, particularly, in mutation detection by different methodologies( DNA sequencing, transcript analysis, site directed mutagenesis and recombinant protein expression analysis. Apart from the PROS1 gene, she has also analysed the contribution of additional inherited risk factors for thrombosis in the development of the clinical phenotype of the PS deficient individuals she analysed, which has provided new insights on the complexity of venous thrombotic disease. As a result of her excellent aptitudes, as well as her rigorous and constant work, after five years of training and research in human molecular genetics, Yolanda Espinosa has made a first rate Ph.D. with significant contributions to the molecular genetics of thrombophilia and, more specifically, to the relationship between protein S gene mutations, protein S deficiency and thrombosis. On this subject, she is the first author of two Blood, one Thrombosis and Haemostasis and two Human Mutation papers in which the other co-authors contributed by providing the patients' samples and phenotypical characteristics, by performing la

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Coordinateur

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
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Adresse
Rue de Sèvres 149
75743 PARIS
France

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