Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Nathalie, Le Meur"'
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Akademický článek
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Autor: Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion
Publikováno v: Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the high genetic heterogeneity of ASD i
Externí odkaz: https://doaj.org/article/8b9cf6cb671e43d4a092d47799fdef90
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3
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
Autor: Alice Goldenberg, Gaël Nicolas, Maud Blanluet, Sandra Chantot-Bastaraud, Gabriella Vera, Boris Keren, Géraldine Joly-Helas, Thierry Frebourg, Didier Hannequin, Jean-Pierre Siffroi, Kévin Cassinari, Nathalie Le Meur, Bertrand Mace, Pascal Chambon
Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66be680ae747c9e43272f96b0c00bcd1
https://doi.org/10.1002/ajmg.a.62361
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5
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Autor: Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a6f3ab544384d46aa5c88805403359
https://doi.org/10.1038/s41431-020-0672-2
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7
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Autor: Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq
Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4668558e248a2f20321235b0164a3f1
https://doi.org/10.1136/jmedgenet-2018-105389
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8
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
Autor: Manuele Mine, Eva Pipiras, Anne Rovelet-Lecrux, Lou Grangeon, Bernard Croisile, Nathalie Le Meur, Olivier Moreaud, Thibault Coste, Kévin Cassinari, Jean Boutonnat, Elisabeth Tournier-Lasserve, Stéphane Rousseau, David Wallon, Gaël Nicolas, Dominique Campion, Maïté Formaglio
Publikováno v: Neurology: Genetics
article-version (Version of Record) 3
Background and ObjectiveTo report a triplication of the amyloid-β precursor protein (APP) locus along with relative messenger RNA (mRNA) expression in a family with autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daa67467c8dd44021aacef6f09be2d3a
https://doi.org/10.1212/nxg.0000000000000609
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10
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
Autor: Ludivine Beaussire, Nathalie Le Meur, Géraldine Joly-Helas, Anne-Claire Brehin, Anne Boland, Gaël Nicolas, Dominique Campion, Jean-François Deleuze, Pascal Chambon, Anne Rovelet-Lecrux, Kévin Cassinari, Mathieu Castelain, Thierry Frebourg, Nasrin Sarafan-Vasseur, Olivier Quenez, Nicolas Gruchy, Pascale Saugier-Veber, Anne-Marie Guerrot, Alice Goldenberg
Publikováno v: Clinical Chemistry
Clinical Chemistry, American Association for Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
BACKGROUND Rare copy number variations (CNVs) are a major cause of genetic diseases. Simple targeted methods are required for their confirmation and segregation analysis. We developed a simple and universal CNV assay based on digital PCR (dPCR) and u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026beef772110386c4e3fa402d1fa582
https://hal-normandie-univ.archives-ouvertes.fr/hal-02339190
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