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25 résultats

	Pour les 25 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
		Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome Qing Wang , Julie Leclerc , Gaëlle Bougeard , Sylviane Olschwang , Stéphanie Vasseur , et al. Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩ Article dans une revue hal-02460716v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis François Lecoquierre , Kevin Cassinari , Pascal Chambon , Gaël Nicolas , Sarah Malsa , et al. European Journal of Medical Genetics, 2020, 63 (4), pp.103773. ⟨10.1016/j.ejmg.2019.103773⟩ Article dans une revue hal-02376908v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		HLA-A0201-restricted CEA-derived peptide CAP1 is not a suitable target for T-cell-based immunotherapy. Emilie Fauquembergue , Olivier Toutirais , David Tougeron , Aurélie Drouet , Matthieu Le Gallo , et al. Journal of immunotherapy : official journal of the Society for Biological Therapy, 2010, 33 (4), pp.402-13. ⟨10.1097/CJI.0b013e3181d366da⟩ Article dans une revue hal-00742157v1*	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract Marion Dhooge , Stéphanie Baert-Desurmont , Carole Corsini , Olivier Caron , Nadine Andrieu , et al. European Journal of Medical Genetics, 2020, 63 (12), pp.104080. ⟨10.1016/j.ejmg.2020.104080⟩ Article dans une revue inserm-03182974v1	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
		Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas Alice Goldenberg , Florent Marguet , Vianney Gilard , Aude-Marie Cardine , Adnan Hassani , et al. Acta Neuropathologica Communications, 2019, 7 (1), pp.191. ⟨10.1186/s40478-019-0841-0⟩ Article dans une revue hal-02538271v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk Stephanie Baert-Desurmont , Francoise Charbonnier , Estelle Houivet , Lorena Ippolito , Jacques Mauillon , et al. European Journal of Human Genetics, 2016, 24 (1), pp.99-105. ⟨10.1038/ejhg.2015.72⟩ Article dans une revue hal-01659109v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome Mariette Renaux-Petel , Richard Sesboüé , Stéphanie Baert-Desurmont , Stéphanie Vasseur , Steeve Fourneaux , et al. Familial Cancer, 2014, 13 (1), pp.127-130. ⟨10.1007/s10689-013-9667-2⟩ Article dans une revue hal-03106914v1	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
		Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert‐desurmont , Claire Bardel , et al. Human Mutation, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩ Article dans une revue hal-02339267v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genomic variations integrated database for MUTYH -associated adenomatous polyposis Philippe Grandval , Aurelie J Fabre , Pascaline Gaildrat , Stéphanie Baert-Desurmont , Martine Blayau , et al. Journal of Medical Genetics, 2014, 52 (1), pp.25 - 27. ⟨10.1136/jmedgenet-2014-102752⟩ Article dans une revue hal-01681775v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families Philippe Grandval , Aurelie J Fabre , Pascaline Gaildrat , Stéphanie Baert-Desurmont , Marie-Pierre Buisine , et al. Database - The journal of Biological Databases and Curation, 2013, 2013, pp.bat036 - bat036. ⟨10.1093/database/bat036⟩ Article dans une revue hal-01681805v1	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
		Transmission of germline TP53 mutations from male carriers to female partners Sophie Patrier-Sallebert , Gaëlle Bougeard , Stéphanie Baert-Desurmont , Aude Lamy , Jean-Michel Flaman , et al. Journal of Medical Genetics, 2015, 52 (3), pp.145-146. ⟨10.1136/jmedgenet-2014-102853⟩ Article dans une revue hal-02356418v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers Gaëlle Bougeard , Mariette Renaux-Petel , Jean-Michel Flaman , Camille Charbonnier , Pierre Fermey , et al. Journal of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩ Article dans une revue hal-02356329v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort N Lavoine , C. Colas , M Muleris , S Bodo , A. Duval , et al. Journal of Medical Genetics, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩ Article dans une revue hal-02356405v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. Gaëlle Bougeard , Stéphanie Baert-Desurmont , Isabelle Tournier , Sophie Vasseur , Cosette Martin , et al. Journal of Medical Genetics, 2006, 43 (6), pp.531-3. ⟨10.1136/jmg.2005.037952⟩ Article dans une revue inserm-00128004v1	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
		La polypose associée à MUTYH : synthèse et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut national du cancer (INCa) Marie-Pierre Buisine , Valérie Bonadona , Stephanie Baert-Desurmont , Delphine Bonnet , Florence Coulet , et al. Bulletin du Cancer, 2020, 107 (5), pp.586-600. ⟨10.1016/j.bulcan.2020.02.004⟩ Article dans une revue hal-02882284v1	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
		Diversity of the clinical presentation of the MMR gene biallelic mutations Gaëlle Bougeard , Laurence Olivier-Faivre , Stéphanie Baert-Desurmont , Julie Tinat , Cosette Martin , et al. Familial Cancer, 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩ Article dans une revue hal-03106912v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Orexigenic Neuropeptide 26RFa: New Evidence for an Adaptive Profile of Appetite Regulation in Anorexia Nervosa Emilie Fauquembergue , Olivier Toutirais , David Tougeron , Aurélie Drouet , Matthieu Le Gallo , et al. Journal of Clinical Endocrinology and Metabolism, 2012, 97 (6), pp.2012-2018. ⟨10.1210/jc.2011-3396⟩ Article dans une revue hal-01962732v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers Solene Houlle , Françoise Charbonnier , Estelle Houivet , Tinat Julie , Marie-Pierre Buisine , et al. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.44⟩ Article dans une revue hal-00624163v1	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

Filtrer vos résultats

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

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis

HLA-A*0201-restricted CEA-derived peptide CAP1 is not a suitable target for T-cell-based immunotherapy.

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome

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

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Genomic variations integrated database for MUTYH -associated adenomatous polyposis

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

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

Transmission of germline TP53 mutations from male carriers to female partners

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.

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

La polypose associée à MUTYH : synthèse et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut national du cancer (INCa)

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

Diversity of the clinical presentation of the MMR gene biallelic mutations

Orexigenic Neuropeptide 26RFa: New Evidence for an Adaptive Profile of Appetite Regulation in Anorexia Nervosa

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

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