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28 résultats

	Pour les 28 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

		Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools Omar Soukarieh , Pascaline Gaildrat , Mohamad Hamieh , Aurélie Drouet , Stéphanie Baert-Desurmont , et al. PLoS Genetics, 2016, 12 (1), pp.e1005756. ⟨10.1371/journal.pgen.1005756⟩ Article dans une revue inserm-02160189v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Multiple sequence variants of BRCA2 exon 7 alter splicing regulation Pascaline Gaildrat , Sophie E. Krieger , Daniela Di Giacomo , Julie Abdat , Françoise Révillion , et al. Journal of Medical Genetics, 2012, 49 (10), pp.609-617. ⟨10.1136/jmedgenet-2012-100965⟩ Article dans une revue istex hal-02336313v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants Pascaline Gaildrat , Audrey Killian , Alexandra Martins , Isabelle Tournier , Thierry Frebourg , et al. Methods Mol Biol, pp.249-257, 2010, ⟨10.1007/978-1-60761-759-4_15⟩ Chapitre d'ouvrage hal-02336373v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds Mev Dominguez-Valentin , D. Gareth R. Evans , Sigve Nakken , Hélène Tubeuf , Daniel Vodak , et al. Hereditary Cancer in Clinical Practice, 2018, 16 (1), ⟨10.1186/s13053-018-0086-0⟩ Article dans une revue hal-02336104v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America Benedito Mauro Rossi , Edenir Inêz Palmero , Francisco López-Kostner , Carlos Sarroca , Carlos Alberto Vaccaro , et al. BMC Cancer, 2017, 17 (1), ⟨10.1186/s12885-017-3599-4⟩ Article dans une revue hal-02336124v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		THE BRCA1 c.5434C>G (p.PRO1812ALA) VARIANT INDUCES A DELETERIOUS EXON 23 SKIPPING BY AFFECTING EXONIC SPLICING REGULATORY ELEMENTS Pascaline Gaildrat , Sophie Krieger , Jean-Christophe Thery , Audrey Killian , Antoine Rousselin , et al. Journal of Medical Genetics, 2010, 47 (6), pp.398. ⟨10.1136/jmg.2009.074047⟩ Article dans une revue hal-00557379v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report Irene Lopez-Perolio , Raphaël Leman , Raquel Behar , Vanessa Lattimore , John F. Pearson , et al. Journal of Medical Genetics, 2019, 56 (7), pp.453-460. ⟨10.1136/jmedgenet-2018-105834⟩ Article dans une revue hal-02194498v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer Grégoire Davy , Antoine Rousselin , Nicolas Goardon , Laurent Castéra , Valentin Harter , et al. European Journal of Human Genetics, 2017, 25 (10), pp.1147-1154. ⟨10.1038/ejhg.2017.116⟩ Article dans une revue hal-02336114v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants Rossella Tricarico , Mariann Kasela , Cristina Mareni , Bryony Thompson , Aurélie Drouet , et al. Human Mutation, 2017, 38 (1), pp.64-77. ⟨10.1002/humu.23117⟩ Article dans une revue hal-02336175v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution of bioinformatics predictions and of functional splicing assays to the interpretation of unclassified variants of the BRCA genes Jean Christophe Théry , Sophie Krieger , Pascaline Gaildrat , Françoise Révillon , Marie-Pierre Buisine , et al. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.100⟩ Article dans une revue hal-00652134v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms Miguel de La Hoya , Omar Soukarieh , Irene Lopez-Perolio , Ana Vega , Logan Walker , et al. Human Molecular Genetics, 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩ Article dans une revue hal-02336165v1	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
		SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing Raphaël Leman , Béatrice Parfait , Dominique Vidaud , Emmanuelle Girodon , Laurence Pacot , et al. Human Mutation, 2022, 43 (12), pp.2308-2323. ⟨10.1002/humu.24491⟩ Article dans une revue hal-04188077v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort Raphael Leman , Pascaline Gaildrat , Gerald L. Gac , Chandran Ka , Yann Fichou , et al. Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩ Article dans une revue hal-01910334v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient Kilan Le Guennec , Hélène Tubeuf , Didier Hannequin , David Wallon , Olivier Quenez , et al. Journal of Alzheimer's Disease, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩ Article dans une revue hal-02356252v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Is BRCA2 involved in early onset colorectal cancer risk? Mathilde Gay‐bellile , Maud Privat , Alexandra Martins , Sandrine Caputo , Céline Pebrel‐richard , et al. Clinical Genetics, 2020, 97 (4), pp.668-669. ⟨10.1111/cge.13679⟩ Article dans une revue hal-02518337v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer Sandrine Caputo , Mélanie Léoné , Francesca Damiola , Asa Ehlen , Aura Carreira , et al. Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩ Article dans une revue hal-01928011v1	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
		Identification of genetic variants for clinical management of familial colorectal tumors Mev Dominguez-Valentin , Sigve Nakken , Hélène Tubeuf , Daniel Vodak , Per Olaf Ekstrøm , et al. BMC Medical Genetics, 2018, 19 (1), ⟨10.1186/s12881-018-0533-9⟩ Article dans une revue hal-02336093v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database Bryony Thompson , Amanda Spurdle , John-Paul Plazzer , Marc Greenblatt , Kiwamu Akagi , et al. Nature Genetics, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩ Article dans une revue hal-02336401v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 Laëtitia Meulemans , Romy L.S. Mesman , Sandrine Caputo , Sophie Krieger , Marine Guillaud-Bataille , et al. Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩ Article dans une revue hal-02929535v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons Brian N. Harding , Amanda Moccia , Séverine Drunat , Omar Soukarieh , Hélène Tubeuf , et al. American Journal of Human Genetics, 2016, 99 (2), pp.511-520. ⟨10.1016/j.ajhg.2016.07.003⟩ Article dans une revue hal-02324787v1	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
		Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements Daniela Di Giacomo , Pascaline Gaildrat , Anna Abuli , Julie Abdat , Thierry Frebourg , et al. Human Mutation, 2013, 34 (11), pp.1547-1557. ⟨10.1002/humu.22428⟩ Article dans une revue istex hal-02336301v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families Mev Dominguez-Valentin , Sigve Nakken , Hélène Tubeuf , Daniel Vodak , Per Olaf Ekstrøm , et al. Familial Cancer, 2018, 17 (1), pp.141-153. ⟨10.1007/s10689-017-0011-0⟩ Article dans une revue hal-02336151v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes Jean Christophe Théry , Sophie E. Krieger , Pascaline Gaildrat , Françoise Révillion , Marie-Pierre Buisine , et al. European Journal of Human Genetics, 2011, 19 (10), pp.1052-1058. ⟨10.1038/ejhg.2011.100⟩ Article dans une revue hal-02336344v1	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
		Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants Pascaline Gaildrat , Saïd Lebbah , Abdellah Tebani , Bénédicte Sudrié-Arnaud , Isabelle Tostivint , et al. Molecular Genetics & Genomic Medicine, 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩ Article dans une revue hal-02336138v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

THE BRCA1 c.5434C>G (p.PRO1812ALA) VARIANT INDUCES A DELETERIOUS EXON 23 SKIPPING BY AFFECTING EXONIC SPLICING REGULATORY ELEMENTS

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Contribution of bioinformatics predictions and of functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

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

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

Is BRCA2 involved in early onset colorectal cancer risk?

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

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

Identification of genetic variants for clinical management of familial colorectal tumors

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

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

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

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

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants