Works by Derouault, Paco

Results: 17

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 12, p. 986, doi. 10.3390/brainsci10120986
By:
- Miressi, Federica;
- Magdelaine, Corinne;
- Cintas, Pascal;
- Bourthoumieux, Sylvie;
- Nizou, Angélique;
- Derouault, Paco;
- Favreau, Frédéric;
- Sturtz, Franck;
- Faye, Pierre-Antoine;
- Lia, Anne-Sophie
Publication type:
Article
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 762, doi. 10.3390/brainsci10110762
By:
- Mafi, Sarah;
- Laroche-Raynaud, Cécile;
- Chazelas, Pauline;
- Lia, Anne-Sophie;
- Derouault, Paco;
- Sturtz, Franck;
- Baaj, Yasser;
- Froget, Rachel;
- Rio, Marlène;
- Benoist, Jean-François;
- Poumeaud, François;
- Favreau, Frédéric;
- Faye, Pierre-Antoine
Publication type:
Article
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Published in:
Biomedicines, 2023, v. 11, n. 6, p. 1565, doi. 10.3390/biomedicines11061565
By:
- Pyromali, Ioanna;
- Richard, Laurence;
- Derouault, Paco;
- Vallat, Jean-Michel;
- Ghorab, Karima;
- Magdelaine, Corinne;
- Sturtz, Franck;
- Favreau, Frédéric;
- Lia, Anne-Sophie
Publication type:
Article
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.875
By:
- Lerat, Justine;
- Magdelaine, Corinne;
- Derouault, Paco;
- Beauvais‐Dzugan, Hélène;
- Bieth, Eric;
- Acket, Blandine;
- Arne‐Bes, Marie‐Christine;
- Sturtz, Franck;
- Lia, Anne‐Sophie
Publication type:
Article
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.839
By:
- Lerat, Justine;
- Magdelaine, Corinne;
- Roux, Anne‐Françoise;
- Darnaud, Léa;
- Beauvais‐Dzugan, Hélène;
- Naud, Steven;
- Richard, Laurence;
- Derouault, Paco;
- Ghorab, Karima;
- Magy, Laurent;
- Vallat, Jean‐Michel;
- Cintas, Pascal;
- Bieth, Eric;
- Arne‐Bes, Marie‐Christine;
- Goizet, Cyril;
- Espil‐Taris, Caroline;
- Journel, Hubert;
- Toutain, Annick;
- Urtizberea, Jon Andoni;
- Boespflug‐Tanguy, Odile
Publication type:
Article
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020212
By:
- Pyromali, Ioanna;
- Benslimane, Nesrine;
- Favreau, Frédéric;
- Goizet, Cyril;
- Lazaro, Leila;
- Vitry, Martine;
- Derouault, Paco;
- Sturtz, Franck;
- Magdelaine, Corinne;
- Lia, Anne-Sophie
Publication type:
Article
Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients.
Published in:
Cancer Medicine, 2018, v. 7, n. 6, p. 2621, doi. 10.1002/cam4.1510
By:
- Chauzeix, Jasmine;
- Laforêt, Marie‐pierre;
- Deveza, Mélanie;
- Crowther, Liam;
- Marcellaud, Elodie;
- Derouault, Paco;
- Lia, Anne‐sophie;
- Boyer, François;
- Bargues, Nicolas;
- Olombel, Guillaume;
- Jaccard, Arnaud;
- Feuillard, Jean;
- Gachard, Nathalie;
- Rizzo, David
Publication type:
Article
UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.737427
By:
- Dalloul, Iman;
- Laffleur, Brice;
- Dalloul, Zeinab;
- Wehbi, Batoul;
- Jouan, Florence;
- Brauge, Baptiste;
- Derouault, Paco;
- Moreau, Jeanne;
- Kracker, Sven;
- Fischer, Alain;
- Durandy, Anne;
- Le Noir, Sandrine;
- Cogné, Michel
Publication type:
Article
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
Published in:
PLoS Computational Biology, 2020, v. 16, n. 2, p. 1, doi. 10.1371/journal.pcbi.1007503
By:
- Derouault, Paco;
- Chauzeix, Jasmine;
- Rizzo, David;
- Miressi, Federica;
- Magdelaine, Corinne;
- Bourthoumieu, Sylvie;
- Durand, Karine;
- Dzugan, Hélène;
- Feuillard, Jean;
- Sturtz, Franck;
- Mérillou, Stéphane;
- Lia, Anne-Sophie
Publication type:
Article
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature.
Published in:
Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 139, doi. 10.1111/jns.12310
By:
- Lerat, Justine;
- Magdelaine, Corinne;
- Beauvais‐Dzugan, Hélène;
- Espil, Caroline;
- Ghorab, Karima;
- Latour, Philippe;
- Derouault, Paco;
- Sturtz, Franck;
- Lia, Anne‐Sophie
Publication type:
Article
Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma.
Published in:
Journal of Neuro-Oncology, 2019, v. 145, n. 3, p. 449, doi. 10.1007/s11060-019-03333-6
By:
- Guyot, Anne;
- Duchesne, Mathilde;
- Robert, Sandrine;
- Lia, Anne-Sophie;
- Derouault, Paco;
- Scaon, Erwan;
- Lemnos, Leslie;
- Salle, Henri;
- Durand, Karine;
- Labrousse, François
Publication type:
Article
Evolution of the Banana Genome (Musa acuminata) Is Impacted by Large Chromosomal Translocations.
Published in:
Molecular Biology & Evolution, 2017, v. 34, n. 9, p. 2140, doi. 10.1093/molbev/msx164
By:
- Martin, Guillaume;
- Carreel, Françoise;
- Coriton, Olivier;
- Hervouet, Catherine;
- Cardi, Céline;
- Derouault, Paco;
- Roques, Danièle;
- Salmon, Frédéric;
- Rouard, Mathieu;
- Sardos, Julie;
- Labadie, Karine;
- Baurens, Franc-Christophe;
- D'Hont, Angélique
Publication type:
Article
Two large reciprocal translocations characterized in the disease resistance-rich burmannica genetic group of Musa acuminata.
Published in:
Annals of Botany, 2019, v. 124, n. 2, p. 319, doi. 10.1093/aob/mcz078
By:
- Dupouy, Marion;
- Baurens, Franc-Christophe;
- Derouault, Paco;
- Hervouet, Catherine;
- Cardi, Céline;
- Cruaud, Corinne;
- Istace, Benjamin;
- Labadie, Karine;
- Guiougou, Chantal;
- Toubi, Lyonel;
- Salmon, Frederic;
- Mournet, Pierre;
- Rouard, Mathieu;
- Yahiaoui, Nabila;
- Lemainque, Arnaud;
- Martin, Guillaume;
- D'Hont, Angélique
Publication type:
Article
Distinct B-Cell Specific Transcriptional Contexts of the BCL2 Oncogene Impact Pre-Malignant Development in Mouse Models.
Published in:
Cancers, 2022, v. 14, n. 21, p. 5337, doi. 10.3390/cancers14215337
By:
- Zawil, Lina;
- Marchiol, Tiffany;
- Brauge, Baptiste;
- Saintamand, Alexis;
- Carrion, Claire;
- Dessauge, Elise;
- Oblet, Christelle;
- Le Noir, Sandrine;
- Mourcin, Frédéric;
- Brousse, Mylène;
- Derouault, Paco;
- Alizadeh, Mehdi;
- Makhour, Yolla El;
- Monvoisin, Céline;
- Saint-Vanne, Julien;
- Léonard, Simon;
- Durand-Panteix, Stéphanie;
- Tarte, Karin;
- Cogné, Michel
Publication type:
Article
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Published in:
BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0665-6
By:
- Chautard, Robin;
- Laroche-Raynaud, Cécile;
- Lia, Anne-Sophie;
- Chazelas, Pauline;
- Derouault, Paco;
- Sturtz, Franck;
- Baaj, Yasser;
- Veauville-Merllié, Alice;
- Acquaviva, Cécile;
- Favreau, Frédéric;
- Faye, Pierre-Antoine
Publication type:
Article
Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 471, doi. 10.1002/acn3.51175
By:
- Lafontaine, Maxime;
- Lia, Anne‐Sophie;
- Bourthoumieu, Sylvie;
- Beauvais‐Dzugan, Hélène;
- Derouault, Paco;
- Arné‐Bes, Marie‐Christine;
- Sarret, Catherine;
- Laffargue, Fanny;
- Magot, Armelle;
- Sturtz, Franck;
- Magy, Laurent;
- Magdelaine, Corinne
Publication type:
Article
Flow cytometry detection of CD138 expression continuum between monotypic B and plasma cells is associated with both high IgM peak levels and MYD88 mutation and contributes to diagnosis of Waldenström macroglobulinemia.
Published in:
Cytometry. Part B, 2022, v. 102, n. 1, p. 62, doi. 10.1002/cyto.b.21995
By:
- Gayet, Mylene;
- Leymarie, Vincent;
- Derouault, Paco;
- Guérin, Estelle;
- Vaidié, Julien;
- Pascal, Virginie;
- Boulin, Mélanie;
- Dmytruk, Nataliya;
- Chauzeix, Jasmine;
- Trimoreau, Franck;
- Gachard, Nathalie;
- Feuillard, Jean;
- Rizzo, David
Publication type:
Article