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A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study.
Published in:
Medical Mycology, 2017, v. 55, n. 2, p. 180, doi. 10.1093/mmy/myw051
By:
- Le Gal, Solene;
- Robert-Gangneux, Florence;
- Pépino, Yann;
- Belaz, Sorya;
- Damiani, Celine;
- Guéguen, Paul;
- Pitous, Melanie;
- Virmaux, Michele;
- Lissillour, Eloise;
- Pougnet, Laurence;
- Guillaud-Saumur, Thibaud;
- Toubas, Dominique;
- Valot, Stephane;
- Hennequin, Christophe;
- Morio, Florent;
- Hasseine, Lilia;
- Bouchara, Jean-Philippe;
- Totet, Anne;
- Nevez, Gilles
Publication type:
Article
Pneumocystis jirovecii haplotypes at the internal transcribed spacers of the rRNA operon in French HIV-negative patients with diverse clinical presentations of Pneumocystis infections.
Published in:
Medical Mycology, 2013, v. 51, n. 8, p. 851, doi. 10.3109/13693786.2013.824123
By:
- Le Gal, Solene;
- Rouille, Amelie;
- Gueguen, Paul;
- Virmaux, Michele;
- Berthou, Christian;
- Guillerm, Gaëlle;
- Couturaud, Francis;
- Le Meur, Yann;
- Damiani, Celine;
- Totet, Anne;
- Nevez, Gilles
Publication type:
Article
CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31504-z
By:
- Niborski, Leticia Laura;
- Gueguen, Paul;
- Ye, Mengliang;
- Thiolat, Allan;
- Ramos, Rodrigo Nalio;
- Caudana, Pamela;
- Denizeau, Jordan;
- Colombeau, Ludovic;
- Rodriguez, Raphaël;
- Goudot, Christel;
- Luccarini, Jean-Michel;
- Soudé, Anne;
- Bournique, Bruno;
- Broqua, Pierre;
- Pace, Luigia;
- Baulande, Sylvain;
- Sedlik, Christine;
- Quivy, Jean-Pierre;
- Almouzni, Geneviève;
- Cohen, José L.
Publication type:
Article
Standardized fixation process is crucial to permit molecular analyses in formalin-fixed and paraffin- embedded melanoma samples.
Published in:
2016
By:
- Uguen, Arnaud;
- Guibourg, Briac;
- Guéguen, Paul
Publication type:
Letter to the Editor
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180
By:
- Redon, Sylvia;
- Benech, Caroline;
- Schutz, Sacha;
- Despres, Aurore;
- Gueguen, Paul;
- Le Berre, Pauline;
- Le Marechal, Cédric;
- Peudenier, Sylviane;
- Meriot, Philippe;
- Parent, Philippe;
- Ferec, Claude
Publication type:
Article
Le séquençage de nouvelle génération par une technique de séquençage sur semi-conducteurs (Ion Torrent PGM™) appliqué aux typages HLA : performances et discussion.
Published in:
Annales de Biologie Clinique, 2016, v. 74, n. 4, p. 449, doi. 10.1684/abc.2016.1161
By:
- Moalic-Allain, Virginie;
- Mercier, Bernard;
- Gueguen, Paul;
- Ferec, Claude
Publication type:
Article
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.
Published in:
British Journal of Haematology, 2016, v. 172, n. 3, p. 475, doi. 10.1111/bjh.13511
By:
- Chauveau, Aurélie;
- Luque Paz, Damien;
- Lecucq, Lydie;
- Le Gac, Gérald;
- Le Maréchal, Cédric;
- Gueguen, Paul;
- Berthou, Christian;
- Ugo, Valérie
Publication type:
Article
Next-generation sequencing is a credible strategy for blood group genotyping.
Published in:
British Journal of Haematology, 2014, v. 167, n. 4, p. 554, doi. 10.1111/bjh.13084
By:
- Fichou, Yann;
- Audrézet, Marie‐Pierre;
- Guéguen, Paul;
- Le Maréchal, Cédric;
- Férec, Claude
Publication type:
Article
Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples.
Published in:
2020
By:
- Keppens, Cleo;
- Dequeker, Elisabeth M. C.;
- Rouleau, Etienne;
- 't Hart, Nils;
- Bubendorf, Lukas;
- Dufraing, Kelly;
- Garrec, Céline;
- Guéguen, Paul;
- Lamy, Aude;
- Marchetti, Antonio;
- Pauwels, Patrick;
- Ryska, Ales;
- Tack, Véronique;
- Tornillo, Luigi;
- Van Casteren, Kaat;
- von der Thüsen, Jan H.;
- Zwaenepoel, Karen;
- Lissenberg-Witte, Birgit;
- Thunnissen, Erik;
- Schuuring, Ed
Publication type:
journal article
New formulae for folding catalysts make them multi-purpose enzymes.
Published in:
Biotechnology & Bioengineering, 1997, v. 56, n. 6, p. 645, doi. 10.1002/(SICI)1097-0290(19971220)56:6<645::AID-BIT7>3.0.CO;2-N
By:
- Moutiez, Mireille;
- Guthapfel, Régine;
- Gueguen, Paul;
- Quéméneur, Eric
Publication type:
Article
Author Correction: CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas.
Published in:
2023
By:
- Niborski, Leticia Laura;
- Gueguen, Paul;
- Ye, Mengliang;
- Thiolat, Allan;
- Ramos, Rodrigo Nalio;
- Caudana, Pamela;
- Denizeau, Jordan;
- Colombeau, Ludovic;
- Rodriguez, Raphaël;
- Goudot, Christel;
- Luccarini, Jean-Michel;
- Soudé, Anne;
- Bournique, Bruno;
- Broqua, Pierre;
- Pace, Luigia;
- Baulande, Sylvain;
- Sedlik, Christine;
- Quivy, Jean-Pierre;
- Almouzni, Geneviève;
- Cohen, José L.
Publication type:
Correction Notice
Evidence for the High Importance of Co-Morbid Factors in HFE C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study.
Published in:
PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081128
By:
- Saliou, Philippe;
- Le Gac, Gérald;
- Mercier, Anne-Yvonne;
- Chanu, Brigitte;
- Guéguen, Paul;
- Mérour, Marie-Christine;
- Gourlaouen, Isabelle;
- Autret, Sandrine;
- Le Maréchal, Cédric;
- Rouault, Karen;
- Nousbaum, Jean-Baptiste;
- Férec, Claude;
- Scotet, Virginie
Publication type:
Article
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074728
By:
- Guéguen, Paul;
- Rouault, Karen;
- Chen, Jian-Min;
- Raguénès, Odile;
- Fichou, Yann;
- Hardy, Elisabeth;
- Gobin, Eric;
- Pan-petesch, Brigitte;
- Kerbiriou, Mathieu;
- Trouvé, Pascal;
- Marcorelles, Pascale;
- Abgrall, Jean-francois;
- Le Maréchal, Cédric;
- Férec, Claude
Publication type:
Article
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Published in:
Children, 2023, v. 10, n. 4, p. 694, doi. 10.3390/children10040694
By:
- Sennsfelder, Laëtitia;
- Guilly, Susie;
- Leruste, Sébastien;
- Hoareau, Ludovic;
- Léocadie, Willy;
- Beuvain, Pauline;
- Nekaa, Meïssa;
- Bagard, Maïté;
- Robin, Stéphanie;
- Lanneaux, Justine;
- Etchebarren, Léa;
- Tallot, Marilyn;
- Spodenkiewicz, Michel;
- Alessandri, Jean-Luc;
- Morel, Godelieve;
- Blanluet, Maud;
- Gueguen, Paul;
- Roy-Doray, Bérénice
Publication type:
Article
Contribution of resident and circulating precursors to tumor-infiltrating CD8+ T cell populations in lung cancer.
Published in:
Science Immunology, 2021, v. 6, n. 55, p. 1, doi. 10.1126/sciimmunol.abd5778
By:
- Gueguen, Paul;
- Metoikidou, Christina;
- Dupic, Thomas;
- Lawand, Myriam;
- Goudot, Christel;
- Baulande, Sylvain;
- Lameiras, Sonia;
- Lantz, Olivier;
- Girard, Nicolas;
- Seguin-Givelet, Agathe;
- Lefevre, Marine;
- Mora, Thierry;
- Walczak, Aleksandra M.;
- Waterfall, Joshua J.;
- Amigorena, Sebastian
Publication type:
Article
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Published in:
2024
By:
- Dohrn, Maike F.;
- Bademci, Guney;
- Rebelo, Adriana P.;
- Jeanne, Médéric;
- Borja, Nicholas A.;
- Beijer, Danique;
- Danzi, Matt C.;
- Bivona, Stephanie A.;
- Gueguen, Paul;
- Zafeer, Mohammad F.;
- Tekin, Mustafa;
- Züchner, Stephan;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Case Study
High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3.
Published in:
Clinical Genetics, 2020, v. 98, n. 2, p. 166, doi. 10.1111/cge.13768
By:
- Gouronc, Aurélie;
- Zilliox, Vincent;
- Jacquemont, Marie‐Line;
- Darcel, Françoise;
- Leuvrey, Anne‐Sophie;
- Nourisson, Elsa;
- Antin, Manuela;
- Alessandri, Jean‐Luc;
- Doray, Bérénice;
- Gueguen, Paul;
- Payet, Frédérique;
- Randrianaivo, Hanitra;
- Stoetzel, Corinne;
- Scheidecker, Sophie;
- Flodrops, Hugues;
- Dollfus, Hélène;
- Muller, Jean
Publication type:
Article
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1
By:
- de Sainte Agathe, Jean-Madeleine;
- Filser, Mathilde;
- Isidor, Bertrand;
- Besnard, Thomas;
- Gueguen, Paul;
- Perrin, Aurélien;
- Van Goethem, Charles;
- Verebi, Camille;
- Masingue, Marion;
- Rendu, John;
- Cossée, Mireille;
- Bergougnoux, Anne;
- Frobert, Laurent;
- Buratti, Julien;
- Lejeune, Élodie;
- Le Guern, Éric;
- Pasquier, Florence;
- Clot, Fabienne;
- Kalatzis, Vasiliki;
- Roux, Anne-Françoise
Publication type:
Article
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Published in:
2020
By:
- Guéguen, Paul;
- Dupuis, Arnaud;
- Py, Jean‐Yves;
- Desprès, Aurore;
- Masson, Emmanuelle;
- Le Marechal, Cédric;
- Cooper, David N.;
- Gachet, Christian;
- Chen, Jian‐Min;
- Férec, Claude;
- Py, Jean-Yves;
- Chen, Jian-Min
Publication type:
journal article
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.
Published in:
Genes, Chromosomes & Cancer, 2017, v. 56, n. 5, p. 354, doi. 10.1002/gcc.22437
By:
- Luque Paz, Damien;
- Chauveau, Aurélie;
- Boyer, Françoise;
- Buors, Caroline;
- Samaison, Laura;
- Cottin, Laurane;
- Seegers, Valérie;
- Férec, Claude;
- Le Maréchal, Cédric;
- Gueguen, Paul;
- Lippert, Eric;
- Ianotto, Jean ‐ Christophe;
- Ugo, Valérie
Publication type:
Article
Human in vivo-generated monocyte-derived dendritic cells and macrophages cross-present antigens through a vacuolar pathway.
Published in:
Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-04985-0
By:
- Tsing-Lee Tang-Huau;
- Gueguen, Paul;
- Goudot, Christel;
- Durand, Mélanie;
- Bohec, Mylène;
- Baulande, Sylvain;
- Pasquier, Benoit;
- Amigorena, Sebastian;
- Segura, Elodie
Publication type:
Article
Biological determinants of bleeding in patients with heterozygous factor XI deficiency.
Published in:
British Journal of Haematology, 2012, v. 156, n. 2, p. 245, doi. 10.1111/j.1365-2141.2011.08945.x
By:
- Guéguen, Paul;
- Galinat, Hubert;
- Blouch, Marie-Thérèse;
- Bridey, Françoise;
- Duchemin, Jérôme;
- Le Gal, Grégoire;
- Abgrall, Jean-François;
- Pan-Petesch, Brigitte
Publication type:
Article
Next-Generation Sequencing and Immunohistochemistry as Future Gold Standard of ALK Testing in Lung Cancer?
Published in:
2015
By:
- Uguen, Arnaud;
- Talagas, Matthieu;
- Marcorelles, Pascale;
- Guéguen, Paul;
- Costa, Sebastian;
- Andrieu‐Key, Sophie;
- De Braekeleer, Marc
Publication type:
Letter to the Editor
Enzymatic synthesis of 11C-labelled (−)-epinephrine.
Published in:
Journal of Labelled Compounds & Radiopharmaceuticals, 1984, v. 21, n. 3, p. 203, doi. 10.1002/jlcr.2580210303
By:
- Soussain, Robert;
- Gueguen, Paul;
- Morgat, Jean-Louis;
- Maziere, Mariannick;
- Berger, Gérard;
- Comar, Dominique
Publication type:
Article
Enzymatic synthesis of 11C-labelled S-adenosylmethionine.
Published in:
Journal of Labelled Compounds & Radiopharmaceuticals, 1982, v. 19, n. 2, p. 157, doi. 10.1002/jlcr.2580190202
By:
- Gueguen, Paul;
- Morgat, Jean-Louis;
- Maziere, Mariannick;
- Berger, Gérard;
- Comar, Dominique;
- Maman, Michel
Publication type:
Article
ALK ambiguous-positive non-small cell lung cancers are tumors challenged by diagnostic and therapeutic issues.
Published in:
Oncology Reports, 2016, v. 36, n. 3, p. 1427, doi. 10.3892/or.2016.4962
By:
- UGUEN, ARNAUD;
- ANDRIEU-KEY, SOPHIE;
- VERGNE, FLORENCE;
- DESCOURT, RENAUD;
- QUÉRÉ, GILLES;
- QUINTIN-ROUÉ, ISABELLE;
- KEY, STÉPHANE;
- GUÉGUEN, PAUL;
- TALAGAS, MATTHIEU;
- DE BRAEKELEER, MARC;
- MARCORELLES, PASCALE
Publication type:
Article

Found: 26

A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study.

Pneumocystis jirovecii haplotypes at the internal transcribed spacers of the rRNA operon in French HIV-negative patients with diverse clinical presentations of Pneumocystis infections.

CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas.

Standardized fixation process is crucial to permit molecular analyses in formalin-fixed and paraffin- embedded melanoma samples.

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Le séquençage de nouvelle génération par une technique de séquençage sur semi-conducteurs (Ion Torrent PGM™) appliqué aux typages HLA : performances et discussion.

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

Next-generation sequencing is a credible strategy for blood group genotyping.

Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples.

New formulae for folding catalysts make them multi-purpose enzymes.

Author Correction: CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas.

Evidence for the High Importance of Co-Morbid Factors in <i>HFE</i> C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study.

A Missense Mutation in the Alpha-Actinin 1 Gene (<i>ACTN1</i>) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.

Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.

Contribution of resident and circulating precursors to tumor-infiltrating CD8<sup>+</sup> T cell populations in lung cancer.

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.

Human in vivo-generated monocyte-derived dendritic cells and macrophages cross-present antigens through a vacuolar pathway.

Biological determinants of bleeding in patients with heterozygous factor XI deficiency.

Next-Generation Sequencing and Immunohistochemistry as Future Gold Standard of ALK Testing in Lung Cancer?

Enzymatic synthesis of <sup>11</sup>C-labelled (−)-epinephrine.

Enzymatic synthesis of <sup>11</sup>C-labelled S-adenosylmethionine.

ALK ambiguous-positive non-small cell lung cancers are tumors challenged by diagnostic and therapeutic issues.