Works by Derouault, Paco

Results: 18

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

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

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

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

PB1819: KMT2A::ARHGEF12 RARE FUSION ASSOCIATED WITH A NOVEL GERMLINE DDX41 VARIANT IN ACUTE MYELOID LEUKEMIA.

Published in:

HemaSphere, 2023, v. 7, p. 1, doi. 10.1097/01.HS9.0000974124.17383.7c

By:

Roubinet, Maxime;
Rizzo, David;
Chauzeix, Jasmine;
Turlure, Pascal;
Laforet, Marie‐Pierre;
Derouault, Paco;
Feuillard, Jean;
Yardin, Catherine;
Auboiroux, Marie‐Mathilde;
Veyrune, Léa;
Perani, Alexandre;
Bourthoumieu, Sylvie;
Dauriat, Benjamin;
Gachard, Nathalie

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

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

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

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

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

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

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

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

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

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

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