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Gaëlle Lefèvre

Pasteur Institute

16

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1002

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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

2020 Proceedings of the National Academy of Sciences of the United States of America
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

2016 European Journal of Human Genetics
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Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

2015 Molecular Genetics & Genomic Medicine
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Identification de structures tourbillonnaires par PIV dans un écoulement de cavité

2009
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Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.

2009 Pflügers Archiv: European Journal of Physiology
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Activation of the FGF2/FGFR1 autocrine loop for cell proliferation and survival in uveal melanoma cells.

2009 Investigative Ophthalmology & Visual Science
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Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

2007 The Journal of Neuroscience
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Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

2005 Human Molecular Genetics
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Syndrome de Usher de type 1 et développement de la touffe ciliaire des cellules sensorielles de l’oreille interne

2005 M S-medecine Sciences
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[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].

2005 M S-medecine Sciences
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