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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Published in:
2024
By:
- Hebrard, Bérénice;
- Babonneau, Marie-Lise;
- Charron, Philippe;
- Consolino, Emilie;
- Dauriat, Benjamin;
- Dupin-Deguine, Delphine;
- Fargeaud, Dominique;
- Farrugia, Agnès;
- Giguet-Valard, Anna-Gaëlle;
- Guijarro, Damien;
- Inamo, Jocelyn;
- Jeanneteau, Julien;
- Mazzella, Jean-Michaël;
- Michon, Claire-Cécile;
- Millat, Gilles;
- Mouquet, Frédéric;
- Oghina, Silvia;
- Pereon, Yann;
- Poinsignon, Vianney;
- Pompougnac, Julie
Publication type:
Letter
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2397
By:
- Giguet‐Valard, Anna‐Gaëlle;
- Thevenin, Christelle;
- Dreux, Sophie;
- Decatrelle, Valérie;
- Juve, Marie‐Laure;
- Yazza, Soraya;
- Adenet, Clara;
- Lesueur, Marion;
- Bouvagnet, Patrice;
- Gueneret, Michèle
Publication type:
Article
A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes.
Published in:
Cardiogenetics, 2023, v. 13, n. 4, p. 135, doi. 10.3390/cardiogenetics13040013
By:
- Giguet-Valard, Anna-Gaëlle;
- Monfort, Astrid;
- Lucron, Hugues;
- Mosbah, Helena;
- Boccara, Franck;
- Vatier, Camille;
- Vigouroux, Corinne;
- Richard, Pascale;
- Wahbi, Karim;
- Bellance, Remi;
- Sarrazin, Elisabeth;
- Inamo, Jocelyn
Publication type:
Article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
By:
- Liu, Hui;
- Giguet‐Valard, Anna‐Gaëlle;
- Simonet, Thomas;
- Szenker‐Ravi, Emmanuelle;
- Lambert, Laetitia;
- Vincent‐Delorme, Catherine;
- Scheidecker, Sophie;
- Fradin, Mélanie;
- Morice‐Picard, Fanny;
- Naudion, Sophie;
- Ciorna‐Monferrato, Viorica;
- Colin, Estelle;
- Fellmann, Florence;
- Blesson, Sophie;
- Jouk, Pierre‐Simon;
- Francannet, Christine;
- Petit, Florence;
- Moutton, Sébastien;
- Lehalle, Daphné;
- Chassaing, Nicolas
Publication type:
Article

Found: 4

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Antenatal description of large 4q13.2q21.23 deletion and outcomes.

A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.