Kolexia
Arnaud Pauline Pharmacien
Arnaud Pauline
Pharmacien
Hôpital Bichat-Claude-Bernard
Paris, France
55 Activités
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Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Syndrome de Marfan Anévrysme disséquant Anévrysme Anévrysme de l'aorte Anévrysme de l'aorte thoracique Prédisposition génétique à une maladie Maladies de l'aorte Arachnodactylie Mort subite cardiaque

Collaborateurs

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Boileau Catherine
Boileau Catherine
Hôpital Bichat-Claude-Bernard, Paris, France
Hanna Nadine
Hanna Nadine
Hôpital Bichat-Claude-Bernard, Paris, France
Jondeau Guillaume
Jondeau Guillaume
Hôpital Bichat-Claude-Bernard, Paris, France
Gouya Laurent
Gouya Laurent
Hôpital Louis-Mourier, Colombes, France

Industries

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Dernières activités

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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Journal of medical genetics   08 mars 2024
De novo balanced translocations disrupting the FBN1 gene: an uncommon cause of Marfan syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
A new Smad4 mouse model mimicking Myhre Syndrome?
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Family history of aortic dissection in patients with a FBN1 pathogenic variant
JESFC 2023   01 janvier 2023
Genetic of thoracic aorta aneurysm.
Annales de biologie clinique   15 septembre 2022
Pathogenic variants affecting the TB5 domain of fibrillin-1 protein in Marfan syndrome and Geleophysic/Acromicric Dysplasia patients: from tall to short
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
An atypical phenotype in a patient carrying a deletion and a missense variant of LTPB3: search for overlapping cases for further delineation of the disease
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Frontiers in genetics   29 novembre 2021
Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation
ESC Congress 2021 – The Digital Experience 27 August – 30 August 2021 Abstract Supplement   12 octobre 2021