Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot‐Bastaraud, Sandra, Beneteau, Claire, Denis‐Musquer, Marie, Turnpenny, Peter D., Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban‐Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, Caberg, Jean‐Hubert, Denommé‐Pichon, Anne‐Sophie, Tran Mau‐Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara
Published in Clinical genetics (01.08.2022)
Published in Clinical genetics (01.08.2022)
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Change in lentigo maligna score assessed by in vivo reflectance confocal microscopy after 1 month of imiquimod treatment for lentigo maligna management
Soenen, Anouk, Vourc'h, Morgane, Khammari, Amir, Nguyen, Jean-Michel, Bossard, Céline, Denis Musquer, Marie, Vergier, Béatrice, Dréno, Brigitte
Published in Journal of the American Academy of Dermatology (01.05.2022)
Published in Journal of the American Academy of Dermatology (01.05.2022)
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Prospective evaluation of two screening methods for molecular testing of metastatic melanoma: Diagnostic performance of BRAF V600E immunohistochemistry and of a NRAS-BRAF fully automated real-time PCR-based assay
Vallée, Audrey, Denis-Musquer, Marie, Herbreteau, Guillaume, Théoleyre, Sandrine, Bossard, Céline, Denis, Marc G
Published in PloS one (15.08.2019)
Published in PloS one (15.08.2019)
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Medicopsis romeroi nodular subcutaneous infection in a kidney transplant recipient
Jeddi, Fakhri, Paugam, Charlotte, Hartuis, Sophie, Denis-Musquer, Marie, Sabou, Marcela, Lavergne, Rose-Anne, Muguet, Louise, Le Pape, Patrice
Published in International journal of infectious diseases (01.06.2020)
Published in International journal of infectious diseases (01.06.2020)
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Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature
Muguet Guenot, Louise, Aubert, Helene, Isidor, Bertrand, Toutain, Annick, Mazereeuw‐Hautier, Juliette, Collet, Corinne, Bourrat, Emmanuelle, Denis Musquer, Marie, Barbarot, Sébastien
Published in Pediatric dermatology (01.03.2019)
Published in Pediatric dermatology (01.03.2019)
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High-Density of FcγRIIIA+ (CD16+) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independently of the HLA-E/CD94-NKG2A Axis
Denis Musquer, Marie, Jouand, Nicolas, Pere, Morgane, Lamer, Juliette Eugène, Bézieau, Stéphane, Matysiak, Tamara, Faroux, Roger, Caroli Bosc, François-Xavier, Rousselet, Marie-Christine, Leclair, François, Mosnier, Jean-François, Toquet, Claire, Gervois, Nadine, Bossard, Céline
Published in Frontiers in oncology (15.06.2021)
Published in Frontiers in oncology (15.06.2021)
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J, Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C Y, Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F, Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C, Fry, Andrew E, Bahi-Buisson, Nadia
Published in Journal of medical genetics (01.02.2023)
Published in Journal of medical genetics (01.02.2023)
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The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
Ghesh, Leïla, Musquer, Marie Denis, Devisme, Louise, Stichelbout, Morgane, Boutaud, Lucile, Elkhartoufi, Nadia, Vaast, Pascal, Boute, Odile, Riteau, Anne‐Sophie, Le Vaillant, Claudine, Winer, Norbert, Joubert, Madeleine, Bezieau, Stéphane, Thomas, Sophie, Attie‐Bitach, Tania, Beneteau, Claire
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Acanthosis nigricans, hypochondroplasia, and FGFR 3 mutations: Findings with five new patients, and a review of the literature
Muguet Guenot, Louise, Aubert, Helene, Isidor, Bertrand, Toutain, Annick, Mazereeuw‐Hautier, Juliette, Collet, Corinne, Bourrat, Emmanuelle, Denis Musquer, Marie, Barbarot, Sébastien
Published in Pediatric dermatology (01.03.2019)
Published in Pediatric dermatology (01.03.2019)
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Une expulsion bien singulière d’un ver adulte de Loa loa
Aubry, Arthur, Hervochon, Charles, Chauveau, Marie, Denis-Musquer, Marie, Jeddi, Fakhri, Lavergne, Rose-Anne, Le Pape, Patrice, Morio, Florent
Published in Revue francophone des laboratoires (01.01.2022)
Published in Revue francophone des laboratoires (01.01.2022)
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