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	Pour les 42 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 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

		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
		Brain transcriptomic analysis of honeybees (Apis mellifera) parasitised by Varroa destructor or Nosema cranae Cynthia Mcdonnell , Cédric Alaux , Hughes Parrinello , Jean-Pierre Desvignes , Marion Serot , et al. Eurbee 5th European Conference of Apidology, Sep 2012, Halle, Germany Communication dans un congrès hal-02806189v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo B. Barckmann , S. Pierson , J Dufourt , Papin C , C. Armenise , et al. Cell Reports, 2015, 12 (7), pp.1205-1216. ⟨10.1016/j.celrep.2015.07.030⟩ Article dans une revue hal-01186665v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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
		PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia Rebekah Jobling , Mirna Assoum , Oleksandr Gakh , Susan Blaser , Julian A Raiman , et al. Brain - A Journal of Neurology , 2015, 138 (6), pp.1505 - 1517. ⟨10.1093/brain/awv057⟩ Article dans une revue hal-01680921v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera). Cynthia Mcdonnell , Cédric Alaux , Hugues Parrinello , Jean-Pierre Desvignes , Didier Crauser , et al. BMC Ecology, 2013, 13 (1), pp.25. ⟨10.1186/1472-6785-13-25⟩ Article dans une revue inserm-00848671v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population Nadine Jalkh , Sandra Corbani , Zahraa Haidar , Nadine Hamdan , Elias Farah , et al. BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0474-y⟩ Article dans une revue hal-02048914v1	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-01741722v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Alexandre Kreisler , Jean-Pierre Desvignes , et al. Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩ Article dans une revue hal-01670172v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard , et al. Journal of Genetics, 2016, 95 (1), pp.203-208 Article dans une revue hal-01469051v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al. BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩ Article dans une revue pasteur-01882965v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1 Lara El-Bazzal , Khalil Rihan , Nathalie Bernard-Marissal , Christel Castro , Eliane Chouery-Khoury , et al. Human Molecular Genetics, 2019, ⟨10.1093/hmg/ddz060⟩ Article dans une revue hal-02152040v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New advances in DPYD genotype and risk of severe toxicity under capecitabine Marie-Christine Etienne-Grimaldi , Christophe Boyer , Christophe Béroud , Litaty Mbatchi , André van Kuilenburg , et al. PLoS ONE, 2017, 12 (5), pp.e0175998. ⟨10.1371/journal.pone.0175998⟩ Article dans une revue hal-01780001v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS Marc Bartoli , Jean-Pierre Desvignes , Nicolas Lévy , Martin Krahn Muscle & Nerve, 2014, 50 (6), pp.1007-1010. ⟨10.1002/mus.24344⟩ Article dans une revue hal-01610020v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Arnaud Blanchard , Morgane Miltgen , et al. Human Mutation, 2016, 37 (5), pp.439 - 446. ⟨10.1002/humu.22965⟩ Article dans une revue hal-01670164v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Juliette Bacquet , Tanya Stojkovic , Amandine Boyer , Nathalie Martini , Frédérique Audic , et al. BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩ Article dans une revue hal-01984168v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus Pierre Cacciagli , Julie Sutera-Sardo , Ana Borges-Correia , Jean-Christophe Roux , Imen Dorboz , et al. American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩ Article dans une revue hal-01668665v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) Sahar Elouej , Ana Beleza-Meireles , Richard Caswell , Kevin Colclough , Sian Ellard , et al. Metabolism, 2017, 71, pp.213-225. ⟨10.1016/j.metabol.2017.03.011⟩ Article dans une revue hal-01680909v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In-cell intrabody selection from a diverse human library identifies c12orf4 protein as a new player in rodent mast cell degranulation. Elsa Mazuc , Laurence Guglielmi , Nicole Bec , Vincent Parez , Chang S. Hahn , et al. PLoS ONE, 2014, 9 (8), pp.e104998. ⟨10.1371/journal.pone.0104998⟩ Article dans une revue inserm-01067852v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩ Article dans une revue hal-01469052v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor Svetlana Gorokhova , Sophie Gaillard , L. Urien , P. Malapert , W. Legha , et al. PLoS Genetics, 2014, 10 (2), pp.e1004081. ⟨10.1371/journal.pgen.1004081⟩ Article dans une revue hal-01112482v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD Elena Gargaun , Sestina Falcone , Guilhem Sole , Julien Durigneux , Andoni Urtizberea , et al. Biomedicines, 2021, 9 (2), pp.219. ⟨10.3390/biomedicines9020219⟩ Article dans une revue hal-03163543v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A genetic screen for functional partners of condensin in fission yeast Xavier Robellet , Lydia Fauque , Pénélope Legros , Esther Mollereau , Stéphane Janczarski , et al. G3, 2014, 4 (2), pp.373-81. ⟨10.1534/g3.113.009621⟩ Article dans une revue ensl-00962342v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Actionable Genes, Core Databases, and Locus-Specific Databases Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes , et al. Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩ Article dans une revue hal-01469071v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NEW MISSENSE MUTATIONS IN THE VACCINIA-RELATED KINASE 1 GENE ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE Lara El-Bazzal , Christel Castro , Nathalie Roëckel-Trevisiol , Jean-Pierre Desvignes , André Mégarbané , et al. Journal of the Peripheral Nervous System, 2016, 21 (3), pp.251-252 Article dans une revue hal-01469080v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Piezo1 is required for outflow tract and aortic valve development. Adèle Faucherre , Hamid Moha Ou Maati , Nathalie Nasr , Amélie Pinard , Alexis Theron , et al. Journal of Molecular and Cellular Cardiology, 2020, 143, pp.51-62. ⟨10.1016/j.yjmcc.2020.03.013⟩ Article dans une revue hal-02863713v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a peripheral blood gene signature predicting aortic valve calcification Donal Macgrogan , Beatriz Martínez-Poveda , Jean-Pierre Desvignes , Leticia Fernandez-Friera , Manuel José Gomez , et al. Physiological Genomics, 2020, 52 (12), pp.563-574. ⟨10.1152/physiolgenomics.00034.2020⟩ Article dans une revue hal-02965646v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia Cybel Mehawej , Agnès Delahodde , Laurence Legeai-Mallet , Valérie Delague , Nabil Kaci , et al. PLoS Genetics, 2014, 10 (5), pp.e1004311. ⟨10.1371/journal.pgen.1004311⟩ Article dans une revue hal-01680942v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher , et al. Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩ Article dans une revue hal-02140150v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

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

Brain transcriptomic analysis of honeybees (Apis mellifera) parasitised by Varroa destructor or Nosema cranae

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo

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

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera).

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

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

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1

New advances in DPYD genotype and risk of severe toxicity under capecitabine

EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

In-cell intrabody selection from a diverse human library identifies c12orf4 protein as a new player in rodent mast cell degranulation.

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

A genetic screen for functional partners of condensin in fission yeast

Actionable Genes, Core Databases, and Locus-Specific Databases

NEW MISSENSE MUTATIONS IN THE VACCINIA-RELATED KINASE 1 GENE ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE

Piezo1 is required for outflow tract and aortic valve development.

Identification of a peripheral blood gene signature predicting aortic valve calcification

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy