0 results match your search.
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Revolutionising healing: Gene Editing's breakthrough against sickle cell disease.
Annarita Miccio
Source : Blood Rev
2024 Mar 7
Pmid / DOI: 38493007
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Annarita Miccio
Source : Mol Ther Nucleic Acids
2023 Dec 12
Pmid / DOI: 38034032
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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum
Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet
Source : Cold Spring Harbor Laboratory
2023 Nov 20
Pmid / DOI: https://doi.org/10.1101/2022.10.19.22280748
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Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac
Source : Dev Cell
2023 Nov 6
Pmid / DOI: 37852253
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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum
Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet
Source : Cold Spring Harbor Laboratory
2023 Oct 16
Pmid / DOI: https://doi.org/10.1101/2022.10.19.22280748
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Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet
Source : Cold Spring Harbor Laboratory
2023 Oct 13
Pmid / DOI: https://doi.org/10.1101/2023.08.19.23293832
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Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet
Source : Cold Spring Harbor Laboratory
2023 Oct 13
Pmid / DOI: 10.1101/2023.08.19.23293832
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Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac
Source : Dev Cell
2023 Oct 13
Pmid / DOI: 37852253
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Jean-Michel Rozet
Source : Cell Rep
2023 Aug 29
Pmid / DOI: 37480564
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Sickle Cell Disease: From Genetics to Curative Approaches.
Giulia Hardouin, Marina Cavazzana, Annarita Miccio
Source : Annu Rev Genomics Hum Genet
2023 Aug 25
Pmid / DOI: 37624668
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Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret
Source : Dev Cell
2023 Aug 7
Pmid / DOI: 37321213
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Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret
Source : Dev Cell
2023 Aug 7
Pmid / DOI: 37321213
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Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Jean-Michel Rozet
Source : EMBO Mol Med
2023 Aug 7
Pmid / DOI: 37431816
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A wave of deep intronic mutations in X-linked Alport syndrome.
Christelle Arrondel, Hassan Saei, Laurence Heidet, Jessica Kachmar, Philippe Couarch, Olivier Gribouval, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorval
Source : Kidney Int
2023 Aug 1
Pmid / DOI: 37230224
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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Friederike Petzold, Katy Billot, Xiaoyi Chen, Yoann Martin, Maxime Douillet, Cécile Jeanpierre, Olivia Boyer, Aude Servais, Alexandre Benmerah , Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Sophie Saunier, Tania Attié-Bitach, Jean-Michel Rozet, Lydie Burglen, Marlène Rio, Sabine Sarnacki
Source : Kidney Int
2023 Aug 1
Pmid / DOI: 37230223