nathalie lefort

9
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Publications

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Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells

Mikaël Boullé , Alix F Boucharlat , Ambre Leleu , Céline Banal , Aurélie Coussement et al.
Stem Cell Research, 2024, 76, pp.103350. ⟨10.1016/j.scr.2024.103350⟩
Article dans une revue hal-04963919 v1
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Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa

Camille Vincent , Nathalie Lefort , Mathieu Hamlin , Céline Banal , Alain Hovnanian et al.
Stem Cell Research, 2023, 69 (10), pp.103104. ⟨10.1016/j.scr.2023.103104⟩
Article dans une revue hal-04963898 v1
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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking

Rémi Duclaux-Loras , Corinne Lebreton , Jérémy Berthelet , Fabienne Charbit-Henrion , Ophélie Nicolle et al.
Journal of Clinical Investigation, 2022, 132 (10), ⟨10.1172/JCI154997⟩
Article dans une revue hal-03756921 v2
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2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

Lucile Boutaud , Marie Michael , Céline Banal , Damelys Calderon , Sarah Farcy et al.
Journal of visualized experiments : JoVE, 2022, 181, ⟨10.3791/62667⟩
Article dans une revue hal-03690521 v1
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu , Karthyayani Rajamani , Miranda Wilson , Daniel Medina-Cano , Nami Altin et al.
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Article dans une revue hal-03151207 v1
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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Daniel Medina-Cano , Ekin Ucuncu , Lam Nguyen , Michael Nicouleau , Joanna Lipecka et al.
Article dans une revue hal-02347168 v1

Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma.

Rahma Melki , Nathalie Lefort , Antoine Brézin , Henri-Jean Garchon
Molecular Vision, 2005, 11, pp.1012-7
Article dans une revue hal-04974069 v1

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

R Melki , Nathalie Lefort
Journal of Medical Genetics, 2004, 41 (9), pp.647-651. ⟨10.1136/jmg.2004.020024⟩
Article dans une revue hal-04963940 v1