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116 résultats

	Pour les 116 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 4 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

		Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease Jeremie Mortreux , Juliette Bacquet , A. Boyer , E. Alazard , R. Bellance , et al. Journal of Human Genetics, 2019, 65 (3), pp.313-323. ⟨10.1038/s10038-019-0710-5⟩ Article dans une revue hal-03147680v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		VarAFT: a variant annotation and filtration system for human next generation sequencing data Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen , et al. Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩ Article dans une revue hal-01852493v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud , et al. Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩ Article dans une revue hal-01610021v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		[OISO, automatic treatment of patients management in oncogenetics]. Celine Guien , Aurelie J Fabre , Arnaud Lagarde , David Salgado , Catherine Gensollen-Thiriez , et al. Bulletin du Cancer, 2017, 104 (7-8), pp.602 - 607. ⟨10.1016/j.bulcan.2017.06.003⟩ Article dans une revue hal-01680483v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Introducing the online version of the gene table for neuromuscular disease (nuclear genes only) Dalil Hamroun , Christophe Béroud , Bertrand Fontaine , Jean-Claude Kaplan Neuromuscular Disorders, 2005, 15 (1), pp.88. ⟨10.1016/j.nmd.2004.12.002⟩ Article dans une revue istex hal-01682203v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Bioinformatics identification of splice site signals and prediction of mutation effects François-Olivier Desmet , Dalil Hamroun , Gwenaëlle Collod-Béroud , Mireille Claustres , Christophe Béroud RM Mohan. Research Advances In Nucleic Acids Research, Global Research Network Publishers, pp.1-14, 2010 Chapitre d'ouvrage hal-01671042v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research Rachel Thompson , Louise Johnston , Domenica Taruscio , Lucia Monaco , Christophe Béroud , et al. Journal of General Internal Medicine, 2014, 29 (S3), pp.780 - 787. ⟨10.1007/s11606-014-2908-8⟩ Article dans une revue hal-01681779v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands Anna Sarkozy , Kate Bushby , Christophe Béroud , Hanns Lochmuller Neuromuscular Disorders, 2008, 18 (12), pp.997 - 1001. ⟨10.1016/j.nmd.2008.07.006⟩ Article dans une revue hal-01681846v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases France Nelson , France Stojkovic , France Allamand , France Leturcq , Henri-Marc Becane , et al. Journal of Neuromuscular Diseases, 2015, 2 (3), pp.229 - 240. ⟨10.3233/JND-150093⟩ Article dans une revue hal-01681760v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Christophe Béroud , Gwenaëlle Collod-Béroud , Catherine Boileau , Thierry Soussi , Claudine Junien Human Mutation, 2000, 15 (1), pp.86-94. ⟨10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4⟩ Article dans une revue inserm-00143606v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan Sandrine Marquet , Bruno Bucheton , Camille Reymond , Laurent Argiro , Sayda Hassan El-Safi , et al. Journal of Infectious Diseases, 2017, 216 (1), pp.22-28. ⟨10.1093/infdis/jix277⟩ Article dans une revue hal-03890037v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene Gaëlle Blandin , Christophe Béroud , Veronique Labelle , Karine Nguyen , Nicolas Wein , et al. Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩ Article dans une revue hal-01610025v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern Hossam Sakr , Nagia Fahmy , Nermine Elsayed , Hala Abdulhady , Tamer El-Sobky , et al. Neuromuscular Disorders, 2021, 31 (9), pp.814-823. ⟨10.1016/j.nmd.2021.06.012⟩ Article dans une revue hal-03663005v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene France Deburgrave , Fatma Daoud , Stéphane Llense , Jean Claude Barbot , Dominique Récan , et al. Human Mutation, 2007, 28 (2), pp.183 - 195. ⟨10.1002/humu.20422⟩ Article dans une revue istex hal-01681872v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Gwenaëlle Collod-Béroud , Saga Le Bourdelles , Lesley Ades , Leena Ala-Kokko , Patrick Booms , et al. Human Mutation, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩ Article dans une revue inserm-00143263v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Software and database for the analysis of mutations in the human FBN1 gene. G. Collod , Christophe Béroud , T. Soussi , C. Junien , C. Boileau Nucleic Acids Research, 1996, 24 (1), pp.137-40 Article dans une revue inserm-00143165v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Raymond Dalgleish , Paul Flicek , Fiona Cunningham , Alex Astashyn , Raymond Tully , et al. Genome Medicine, 2010, 2 (4), pp.24. ⟨10.1186/gm145⟩ Article dans une revue inserm-00668222v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society William Oetting , Anthony J Brookes , Christophe Béroud , Peter E Taschner , Anthony J. Brookes , et al. Human Mutation, 2016, 37 (10), pp.1110 - 1113. ⟨10.1002/humu.23059⟩ Article dans une revue hal-01681755v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Diagnostic approach to the congenital muscular dystrophies Carsten Bönnemann , Ching H Wang , Susana Quijano-Roy , Nicolas Deconinck , Enrico Bertini , et al. Neuromuscular Disorders, 2014, 24 (4), pp.289 - 311. ⟨10.1016/j.nmd.2013.12.011⟩ Article dans une revue hal-01681798v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort Susana Quijano-Roy , Jana Haberlova , Claudia Castiglioni , John Vissing , Francina Munell , et al. Journal of Neurology, 2022, 269, pp.2414-2429. ⟨10.1007/s00415-021-10806-0⟩ Article dans une revue hal-03359688v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The UMD TP53 database and website: update and revisions. D. Hamroun , S. Kato , C. Ishioka , M. Claustres , Christophe Béroud , et al. Human Mutation, 2006, 27, pp.14-20. ⟨10.1002/humu.20269⟩ Article dans une revue istex hal-00113408v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cardiovascular manifestations in men and women carrying a FBN1 mutation Delphine Detaint , Laurence Faivre , Gwenaelle Collod-Beroud , Anne Child , Bart L Loeys , et al. European Heart Journal, 2010, 31 (18), pp.2223 - 2229. ⟨10.1093/eurheartj/ehq258⟩ Article dans une revue hal-01669994v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay M Krahn , C Pécheux , F. Chapon , Christophe Béroud , V Drouin-Garraud , et al. Clinical Genetics, 2007, 72 (6), pp.582 - 592. ⟨10.1111/j.1399-0004.2007.00906.x⟩ Article dans une revue istex hal-01681861v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases Amélie Pinard , David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Nadine Hanna , et al. Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩ Article dans une revue hal-01457375v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow Madhuri Hegde , Arnold Munnich , Christophe Béroud Human Mutation, 2016, 37 (12, SI), pp.1247. ⟨10.1002/humu.23134⟩ Article dans une revue istex hal-01469068v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population Pauline Romanet , Amira Mohamed , Sophie Giraud , Marie-Françoise Odou , Marie-Odile North , et al. Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩ Article dans une revue hal-01975538v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene Arnaud Blanchard , Vuthy Ea , Agathe Roubertie , Mélanie Martin , Coline Coquart , et al. Human Mutation, 2011, 32 (11), pp.1213 - 1224. ⟨10.1002/humu.21564⟩ Article dans une revue hal-01670069v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes David Baux , Valérie Faugère , Lise Larrieu , Sandie Le Guédard-Méreuze , Dalil Hamroun , et al. Human Mutation, 2008, 29 (8), pp.E76 - E87. ⟨10.1002/humu.20780⟩ Article dans une revue hal-01681852v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Software and database for the analysis of mutations in the human FBN1 gene Gwenaelle Collod , Christophe Béroud , Thierry Soussi , Claudine Junien , Catherine Boileau Nucleic Acids Research, 1996, 24 (1), pp.137-140. ⟨10.1093/nar/24.1.137⟩ Article dans une revue hal-01662876v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe Catherine Bladen , Rachel Thompson , Jacqueline M Jackson , Connie Garland , Claire Wegel , et al. Journal of Neurology, 2014, 261 (1), pp.152 - 163. ⟨10.1007/s00415-013-7154-1⟩ Article dans une revue hal-01681799v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

[OISO, automatic treatment of patients management in oncogenetics].

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

Bioinformatics identification of splice site signals and prediction of mutation effects

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Software and database for the analysis of mutations in the human FBN1 gene.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

Diagnostic approach to the congenital muscular dystrophies

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

The UMD TP53 database and website: update and revisions.

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

Software and database for the analysis of mutations in the human FBN1 gene

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe