Recherche - Collège de France

63 résultats

	Pour les 63 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids Amel Bahloul , Vincent Michel , Jean-Pierre Hardelin , Sylvie Nouaille , Sylviane Hoos , et al. Human Molecular Genetics, 2010, 19 (18), pp.3557 - 3565. ⟨10.1093/hmg/ddq271⟩ Article dans une revue pasteur-03525648v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province Sonia Talbi , Crystel Bonnet , Zied Riahi , Farid Boudjenah , Malika Dahmani , et al. International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩ Article dans une revue pasteur-03219637v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane Paul Avan , Sébastien Le Gal , Vincent Michel , Typhaine Dupont , Jean-Pierre Hardelin , et al. Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (51), pp.25948-25957. ⟨10.1073/pnas.1902781116⟩ Article dans une revue pasteur-02860028v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness Malak Salame , Crystel Bonnet , Ely Cheikh Mohamed Moctar , Selma Mohamed Brahim , Abdallahi Dedy , et al. European Archives of Oto-Rhino-Laryngology, 2023, 280, pp.4057-4063. ⟨10.1007/s00405-023-07907-z⟩ Article dans une revue pasteur-04053511v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies Philippe Jean , Fabienne Wong Jun Tai , Amrit Singh-Estivalet , Andrea Lelli , Cyril Scandola , et al. Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (26), pp.e2221744120. ⟨10.1073/pnas.2221744120⟩ Article dans une revue pasteur-04309088v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis Malika Dahmani , Sonia Talbi , Fatima Ammar-Khodja , Sofiane Ouhab , Farid Boudjenah , et al. International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩ Article dans une revue pasteur-03219608v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Hearing Is Normal without Connexin30 Anne-Cécile Boulay , Francisco J. Del Castillo , Fabrice Giraudet , Ghislaine Hamard , Christian Giaume , et al. Journal of Neuroscience, 2013, 33 (2), pp.430-434. ⟨10.1523/JNEUROSCI.4240-12.2013⟩ Article dans une revue hal-04027322v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Calcium- and Otoferlin-Dependent Exocytosis by Immature Outer Hair Cells Maryline Beurg , Saaid Safieddine , Isabelle Roux , Yohan Bouleau , Christine Petit , et al. Journal of Neuroscience, 2008, 28 (8), pp.1798-1803. ⟨10.1523/JNEUROSCI.4653-07.2008⟩ Article dans une revue hal-04159607v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family Ghita Amalou , Crystel Bonnet , Zied Riahi , Aymane Bouzidi , Soukaina Elrharchi , et al. International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩ Article dans une revue pasteur-03215242v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Deafness: from genetic architecture to gene therapy Christine Petit , Crystel Bonnet , Saaïd Safieddine Nature Reviews Genetics, 2023, 24, pp.665-686. ⟨10.1038/s41576-023-00597-7⟩ Article dans une revue pasteur-04097478v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Crystel Bonnet , Zied Riahi , Sandra Chantot-Bastaraud , Luce Smagghe , Mélanie Letexier , et al. European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩ Article dans une revue pasteur-03215026v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage Jean Defourny , Alain Aghaie , Isabelle Perfettini , Paul Avan , Sedigheh Delmaghani , et al. Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (16), pp.8010-8017. ⟨10.1073/pnas.1821844116⟩ Article dans une revue hal-02318679v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation Oriol Ros , Yvrick Zagar , Sandrine Couvet , Alain Aghaie , Fiona Roche , et al. 2019 Pré-publication, Document de travail hal-02361424v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome Soukaina Elrharchi , Zied Riahi , Sara Salime , Halima Nahili , Hassan Rouba , et al. International Journal of Pediatric Otorhinolaryngology, 2018, 113 (1), pp.46-50. ⟨10.1016/j.ijporl.2018.07.010⟩ Article dans une revue pasteur-04309116v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family Sara Salime , Zied Riahi , Soukaina Elrharchi , Lamiae Elkhattabi , Hicham Charoute , et al. Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩ Article dans une revue pasteur-03219641v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush Ana Fakin , Crystel Bonnet , Anne Kurtenbach , Saddek Mohand-Said , Ditta Zobor , et al. International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩ Article dans une revue hal-03417248v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques [Éditorial] Paul Avan , Christine Petit Médecine/Sciences, 2022, 38 (8-9), pp.621-622. ⟨10.1051/medsci/2022110⟩ Article dans une revue pasteur-03982537v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G Alice Emptoz , Vincent Michel , Andrea Lelli , Omar Akil , Jacques Boutet de Monvel , et al. Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (36), pp.9695 - 9700. ⟨10.1073/pnas.1708894114⟩ Article dans une revue hal-01661148v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice Margot Tertrais , Yohan Bouleau , Alice Emptoz , Séverin Belleudy , R Bryan Sutton , et al. Journal of Neuroscience, 2019, 39 (18), pp.3394-3411. ⟨10.1523/JNEUROSCI.1550-18.2018⟩ Article dans une revue hal-04159459v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss Ju Sun Song , Amel Bahloul , Christine Petit , Sang Jin Kim , Il Joon Moon , et al. Annals of Laboratory Medicine, 2020, 40 (3), pp.224-231. ⟨10.3343/alm.2020.40.3.224⟩ Article dans une revue hal-02433812v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Sandrine Marlin , Delphine Feldmann , Yann Nguyen , Isabelle Rouillon , Natalie Loundon , et al. Biochemical and Biophysical Research Communications, 2010, 394 (3), pp.737-742. ⟨10.1016/j.bbrc.2010.03.062⟩ Article dans une revue istex pasteur-04309241v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene Olaia Subirà , Jaume Català-Mora , Jesús Díaz-Cascajosa , Noel Padrón-Pérez , M. Claveria , et al. Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩ Article dans une revue pasteur-03219607v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders Amale Bousfiha , Amina Bakhchane , Hicham Charoute , Zied Riahi , Khalid Snoussi , et al. Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩ Article dans une revue pasteur-03219646v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment Crystel Bonnet , M. Louha , N. Loundon , N. Michalski , E. Verpy , et al. Gene, 2013, 527 (2), pp.537-540. ⟨10.1016/j.gene.2013.06.044⟩ Article dans une revue istex pasteur-04309222v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells Maryline Beurg , Nicolas Michalski , Saaid Safieddine , Yohan Bouleau , Ralf Schneggenburger , et al. Journal of Neuroscience, 2010, 30 (40), pp.13281-90. ⟨10.1523/JNEUROSCI.2528-10.2010⟩ Article dans une revue pasteur-01472847v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Aziz El-Amraoui , Christine Petit Comptes Rendus. Biologies, 2014, 337 (3), pp.167 - 177. ⟨10.1016/j.crvi.2013.12.004⟩ Article dans une revue pasteur-03922364v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families Imane Aitraise , Ghita Amalou , Amina Bakhchane , Amale Bousfiha , Houria Abdelghaffar , et al. Biochemical Genetics, In press, ⟨10.1007/s10528-023-10515-5⟩ Article dans une revue pasteur-04235312v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Thérapie génique des surdités humaines Anaïs Meyer , Christine Petit , Saaid Safieddine Médecine/Sciences, 2013, 29 (10), pp.883 - 889. ⟨10.1051/medsci/20132910016⟩ Article dans une revue hal-04159599v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Usher Syndrome and Color Vision Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , Ditta Zobor , et al. Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩ Article dans une revue pasteur-03219639v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis Sophie Boucher , Fabienne Wong Jun Tai , Sedigheh Delmaghani , Andrea Lelli , Amrit Singh-Estivalet , et al. Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩ Article dans une revue pasteur-03215054v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

Hearing Is Normal without Connexin30

Calcium- and Otoferlin-Dependent Exocytosis by Immature Outer Hair Cells

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Deafness: from genetic architecture to gene therapy

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques [Éditorial]

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

Thérapie génique des surdités humaines

Usher Syndrome and Color Vision

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