Kolexia
Fanen Pascale
Biologie médicale
Hôpital Henri Mondor
Créteil, France
91 Activités
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{{person.topmesh1.name}} Amyloïdose Mucoviscidose Fibrose Pneumopathies interstitielles Maladies pulmonaires Neuropathies amyloïdes familiales Cardiomyopathies Fibrose pulmonaire Défaillance cardiaque

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Dernières activités

Corrélations phénotype-génotype des patients pédiatriques porteurs de mutations bi-alléliques du gène lié au surfactant ABCA3
28e Congrès de Pneumologie de Langue Française   01 janvier 2024
Idiopathic pulmonary fibrosis with benign variant and pathogenic mutations: can't see the forest for the trees!
ERJ open research   06 novembre 2023
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Archives of cardiovascular diseases   18 août 2023
Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis   28 juin 2023
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyl
Youtube @ Réseau Amylose   22 mai 2023
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
British journal of haematology   16 mars 2023
Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis.
Frontiers in cardiovascular medicine   14 mars 2023
A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis   21 février 2023
Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.
Frontiers in pediatrics   17 janvier 2023
Homozygote and heterozygote transthyretin p.Val142Ile (V122I) genetic variant: Comparison of cardiac involvement, extracardiac manifestations and outcomes
JESFC 2023   01 janvier 2023