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	Pour les 20 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	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

		Modélisation de la régulation de l'épissage alternatif au site A7 de HIV-1 Myriam Vezain [Stage] A03-R-394 \|\| vezain03a, 2003 Rapport inria-00099672v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects Isabelle Tournier , Myriam Vezain , Alexandra Martins , Francoise Charbonnier , Stéphanie Baert-Desurmont , et al. Human Mutation, 2008, 29 (12), pp.1412-1424. ⟨10.1002/humu.20796⟩ Article dans une revue hal-02336389v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System Hélène Tubeuf , Sandrine M. Caputo , Teresa Sullivan , Julie Rondeaux , Sophie Krieger , et al. Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩ Article dans une revue hal-03597164v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes Stéphanie Baert-Desurmont , Sophie Coutant , Francoise Charbonnier , Pierre Macquère , François Lecoquierre , et al. European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩ Article dans une revue hal-02355649v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Familial solitary chondrosarcoma resulting from germline EXT2 mutation. Abdelkader Heddar , Pierre Fermey , Sophie Coutant , Émilie Angot , Jean-Christophe Sabourin , et al. Genes, Chromosomes & Cancer, 2017, 56 (2), pp.128-134. ⟨10.1002/gcc.22419⟩ Article dans une revue hal-02356324v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Building and analysing an integrative model of HIV-1 RNA alternative splicing Alexander Bockmayr , Arnaud Courtois , Damien Eveillard , Myriam Vezain International Conference on Computational Methods in Systems Biology - CMSB 2004, May 2004, Paris/France, pp.43--57, ⟨10.1007/b107287⟩ Communication dans un congrès inria-00000917v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance Daphne Lehalle , Umut Altunoglu , Ange-Line Bruel , Mirna Assoum , Yannis Duffourd , et al. American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩ Article dans une revue hal-02005698v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors Isabelle Tournier , Régine Marlin , Kelly Walton , Francoise Charbonnier , Sophie Coutant , et al. Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩ Article dans une revue hal-02375836v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B Pascale Saugier-Veber , Florent Marguet , Myriam Vezain , Martine Bucourt , Pascaline Létard , et al. European Journal of Medical Genetics, 2019, pp.103814. ⟨10.1016/j.ejmg.2019.103814⟩ Article dans une revue hal-02445306v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat , et al. Human Genetics, 2022, ⟨10.1007/s00439-017-1811-x⟩ Article dans une revue hal-03805825v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation Bénédicte Sudrié-Arnaud , Florent Marguet , Sophie Patrier , Jelena Martinovic , Ferielle Louillet , et al. Clinica Chimica Acta, 2018, 481, pp.1-8. ⟨10.1016/j.cca.2018.02.023⟩ Article dans une revue hal-02356382v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome Mariette Renaux-Petel , Francoise Charbonnier , Jean-Christophe Thery , Pierre Fermey , Gwendoline Lienard , et al. Journal of Medical Genetics, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩ Article dans une revue hal-02355680v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy Myriam Vezain , Bénédicte Gérard , Séverine Drunat , Benoît Funalot , Séverine Fehrenbach , et al. Human Mutation, 2011, 32 (9), pp.989-994. ⟨10.1002/humu.21528⟩ Article dans une revue istex hal-02336367v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. 2019 Pré-publication, Document de travail hal-02317979v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy Myriam Vezain , Pascale Saugier-Veber , Elisa Goina , Renaud Touraine , Vã©ronique Manel , et al. Human Mutation, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩ Article dans une revue istex hal-02336380v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩ Article dans une revue hal-02883904v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations Alexis Guernet , Sathish kumar Mungamuri , Dorthe Cartier , Ravi Sachidanandam , Anitha Jayaprakash , et al. Molecular Cell, 2016, 63 (3), pp.526-538. ⟨10.1016/j.molcel.2016.06.017⟩ Article dans une revue hal-02376161v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus Daphne Lehalle , Umut Altunoglu , Ange‐line Bruel , Mirna Assoum , Yannis Duffourd , et al. EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩ Article dans une revue hal-02904510v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis Myriam Vezain , Matthieu Lecuyer , Marina Rubio , Valérie Dupé , Leslie Ratié , et al. Acta Neuropathologica Communications, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩ Article dans une revue hal-01903168v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Next Generation Sequencing Analysis of HIV-1 Group O Reverse Transcriptase Residue 181C Prevalence and Evolution over Time, With or Without Antiretroviral Selection Pressure Marie Leoz , Myriam Vezain , Elodie Alessandri-Gradt , Sophie Coutant , Guillemette Unal , et al. 23rd HIV Dynamics and Evolution, Apr 2016, Woods Hole, United States Poster de conférence hal-02264817v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Modélisation de la régulation de l'épissage alternatif au site A7 de HIV-1

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Building and analysing an integrative model of HIV-1 RNA alternative splicing

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Next Generation Sequencing Analysis of HIV-1 Group O Reverse Transcriptase Residue 181C Prevalence and Evolution over Time, With or Without Antiretroviral Selection Pressure