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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
By:
- Husson, Thomas;
- Lecoquierre, François;
- Cassinari, Kevin;
- Charbonnier, Camille;
- Quenez, Olivier;
- Goldenberg, Alice;
- Guerrot, Anne-Marie;
- Richard, Anne-Claire;
- Drouin-Garraud, Valérie;
- Brehin, Anne-Claire;
- Soleimani, Maryam;
- Taton, Romain;
- Rotharmel, Maud;
- Rosier, Antoine;
- Chambon, Pascal;
- Le Meur, Nathalie;
- Joly-Helas, Géraldine;
- Saugier-Veber, Pascale;
- Boland, Anne;
- Deleuze, Jean-François
Publication type:
Article
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
By:
- Blanluet, Maud;
- Chantot‐Bastaraud, Sandra;
- Chambon, Pascal;
- Cassinari, Kévin;
- Vera, Gabriella;
- Goldenberg, Alice;
- Keren, Boris;
- Le Meur, Nathalie;
- Hannequin, Didier;
- Mace, Bertrand;
- Siffroi, Jean‐Pierre;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Joly‐Helas, Géraldine
Publication type:
Article
Une translocation pas si robertsonienne !
Published in:
2021
By:
- Amiot, Julie;
- Layet, Valérie;
- Talbot, Alain;
- Castelain, Mathieu;
- Frebourg, Thierry;
- Chambon, Pascal;
- Le Meur, Nathalie;
- Joly Helas, Géraldine;
- Cassinari, Kévin
Publication type:
Correction Notice
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Published in:
Nature Genetics, 2006, v. 38, n. 1, p. 24, doi. 10.1038/ng1718
By:
- Rovelet-Lecrux, Anne;
- Hannequin, Didier;
- Raux, Gregory;
- Meur, Nathalie Le;
- Laquerrière, Annie;
- Vital, Anne;
- Dumanchin, Cécile;
- Feuillette, Sébastien;
- Brice, Alexis;
- Vercelletto, Martine;
- Dubas, Frédéric;
- Frebourg, Thierry;
- Campion, Dominique
Publication type:
Article
Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability.
Published in:
Oncogene, 2004, v. 23, n. 53, p. 8597, doi. 10.1038/sj.onc.1207845
By:
- Killian, Audrey;
- Meur, Nathalie Le;
- Sesboüá, Richard;
- Bourguignon, Jeannette;
- Bougeard, Gaëlle;
- Gautherot, Julien;
- Bastard, Christian;
- Frébourg, Thierry;
- Flaman, Jean-Michel
Publication type:
Article
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 9, p. 1009, doi. 10.1038/sj.ejhg.5201661
By:
- Saugier-Veber, Pascale;
- Goldenberg, Alice;
- Drouin-Garraud, Valérie;
- de La Rochebrochard, Céline;
- Layet, Valérie;
- Drouot, Nathalie;
- Le Meur, Nathalie;
- Gilbert-Du-ssardier, Brigitte;
- Joly-Hélas, Géraldine;
- Moirot, Hélène;
- Rossi, Annick;
- Tosi, Mario;
- Frébourg, Thierry
Publication type:
Article
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 5, p. 415, doi. 10.1038/sj.ejhg.5201155
By:
- Le Meur, Nathalie;
- Martin, Cosette;
- Saugier-Veber, Pascale;
- Joly, Géraldine;
- Lemoine, Françose;
- Moirot, Hélène;
- Rossi, Annick;
- Bachy, Bruno;
- Cabot, Annick;
- Joly, Pascal;
- Frébourg, Thierry
Publication type:
Article
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Published in:
Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
By:
- Cassinari, Kévin;
- Quenez, Olivier;
- Joly-Hélas, Géraldine;
- Beaussire, Ludivine;
- Le Meur, Nathalie;
- Castelain, Mathieu;
- Goldenberg, Alice;
- Guerrot, Anne-Marie;
- Brehin, Anne-Claire;
- Deleuze, Jean-François;
- Boland, Anne;
- Rovelet-Lecrux, Anne;
- Campion, Dominique;
- Saugier-Veber, Pascale;
- Gruchy, Nicolas;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Sarafan-Vasseur, Nasrin;
- Chambon, Pascal
Publication type:
Article
Évaluation des impacts sur la santé de l'incendie Lubrizol/NL Logistique: Une enquête de l'association Rouen Respire.
Published in:
Environnement, Risques & Santé, 2021, v. 20, n. 2, p. 199, doi. 10.1684/ers.2021.1537
By:
- Cellier, Dominique;
- Chadelaud, Michel;
- Duhamel, Martine;
- Fleury, Martine;
- Le Meur, Nathalie;
- Riboulet, Alice
Publication type:
Article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Published in:
2016
By:
- Gruchy, Nicolas;
- Blondeel, Eleonore;
- Le Meur, Nathalie;
- Joly‐Hélas, Géraldine;
- Chambon, Pascal;
- Till, Marianne;
- Herbaux, Martine;
- Vigouroux‐Castera, Adeline;
- Coussement, Aurélie;
- Lespinasse, James;
- Amblard, Florence;
- Jimenez Pocquet, Mélanie;
- Lebel‐Roy, Camille;
- Carré‐Pigeon, Frédérique;
- Flori, Elisabeth;
- Mugneret, Francine;
- Jaillard, Sylvie;
- Yardin, Catherine;
- Harbuz, Radu;
- Collonge‐Rame, Marie‐Agnès
Publication type:
journal article
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Published in:
Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A
By:
- Saugier-Veber, Pascale;
- Martin, Cosette;
- Le Meur, Nathalie;
- Lyonnet, Stanislas;
- Munnich, Arnold;
- David, Albert;
- Hénocq, Alain;
- Héron, Delphine;
- Jonveaux, Philippe;
- Odent, Sylvie;
- Manouvrier, Sylvie;
- Moncla, Anne;
- Morichon, Nicole;
- Philip, Nicole;
- Satge, Daniel;
- Tosi, Mario;
- Frébourg, T
Publication type:
Article

Found: 11