Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
Tucker, Elena J., Gutfreund, Niklas, Belaud‐Rotureau, Marc‐Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L., Bell, Katrina M., Domin‐Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Dötsch, Volker, Jaillard, Sylvie
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Immunotherapy in Renal Cell Carcinoma: The Future Is Now
Deleuze, Antoine, Saout, Judikaël, Dugay, Frédéric, Peyronnet, Benoit, Mathieu, Romain, Verhoest, Gregory, Bensalah, Karim, Crouzet, Laurence, Laguerre, Brigitte, Belaud-Rotureau, Marc-Antoine, Rioux-Leclercq, Nathalie, Kammerer-Jacquet, Solène-Florence
Published in International journal of molecular sciences (05.04.2020)
Published in International journal of molecular sciences (05.04.2020)
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22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency
Jaillard, Sylvie, Tucker, Elena J, Akloul, Linda, Beaumont, Marion, Domin, Mathilde, Pasquier, Laurent, Jouve, Guilhem, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Ravel, Célia
Published in Journal of human genetics (01.05.2018)
Published in Journal of human genetics (01.05.2018)
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Targeting the PD-1/PD-L1 Pathway in Renal Cell Carcinoma
Kammerer-Jacquet, Solène-Florence, Deleuze, Antoine, Saout, Judikaël, Mathieu, Romain, Laguerre, Brigitte, Verhoest, Gregory, Dugay, Frédéric, Belaud-Rotureau, Marc-Antoine, Bensalah, Karim, Rioux-Leclercq, Nathalie
Published in International journal of molecular sciences (04.04.2019)
Published in International journal of molecular sciences (04.04.2019)
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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
Tucker, Elena J, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie L, Listyasari, Nurin, Faradz, Sultana Mh, Dulon, Jérôme, Bakhshalizadeh, Shabnam, Sreenivasan, Rajini, Nouyou, Benedicte, Carre, Wilfrid, Akloul, Linda, Duros, Solène, Domin-Bernhard, Mathilde, Belaud-Rotureau, Marc-Antoine, Touraine, Philippe, Jaillard, Sylvie, Sinclair, Andrew H
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects
Jaillard, Sylvie, Andrieux, Joris, Plessis, Ghislaine, Krepischi, Ana C.V., Lucas, Josette, David, Véronique, Le Brun, Marine, Bertola, Debora R., David, Albert, Belaud-Rotureau, Marc-Antoine, Mosser, Jean, Lazaro, Leila, Treguier, Catherine, Rosenberg, Carla, Odent, Sylvie, Dubourg, Christèle
Published in American journal of medical genetics. Part A (01.04.2011)
Published in American journal of medical genetics. Part A (01.04.2011)
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FBXW7/hCDC4 controls glioma cell proliferation in vitro and is a prognostic marker for survival in glioblastoma patients
Hagedorn, Martin, Delugin, Maylis, Abraldes, Isabelle, Allain, Nathalie, Belaud-Rotureau, Marc-Antoine, Turmo, Michelle, Prigent, Claude, Loiseau, Hugues, Bikfalvi, Andréas, Javerzat, Sophie
Published in Cell division (27.02.2007)
Published in Cell division (27.02.2007)
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Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing
Mary, Laura, Leclerc, Delphine, Labalme, Audrey, Bellaud, Pascale, Mazaud-Guittot, Séverine, Dréano, Stéphane, Evrard, Bertrand, Bigand, Antoine, Cauchoix, Aurélie, Loget, Philippe, Lokchine, Anna, Cluzeau, Laurence, Gilot, David, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie
Published in Genes (20.01.2023)
Published in Genes (20.01.2023)
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Autophagy inhibition cooperates with erlotinib to induce glioblastoma cell death
Eimer, Sandrine, Belaud-Rotureau, Marc-Antoine, Airiau, Kelly, Jeanneteau, Marie, Laharanne, Elodie, Véron, Nadège, Vital, Anne, Loiseau, Hugues, Merlio, Jean-Philippe, Belloc, Francis
Published in Cancer biology & therapy (15.06.2011)
Published in Cancer biology & therapy (15.06.2011)
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
El Khattabi, Laïla, Jaillard, Sylvie, Andrieux, Joris, Pasquier, Laurent, Perrin, Laurence, Capri, Yline, Benmansour, Abdelmadjid, Toutain, Annick, Marcorelles, Pascale, Vincent-Delorme, Catherine, Journel, Hubert, Henry, Catherine, De Barace, Claire, Devisme, Louise, Dubourg, Christèle, Demurger, Florence, Lucas, Josette, Belaud-Rotureau, Marc-Antoine, Amiel, Jeanne, Malan, Valérie, De Blois, Marie-Christine, De Pontual, Loïc, Lebbar, Aziza, Le DÛ, Nathalie, Germain, Dominique P., Pinard, Jean-Marc, Pipiras, Eva, Tabet, Anne-Claude, Aboura, Azzedine, Verloes, Alain
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Common chromosomal abnormalities in mycosis fungoides transformation
Prochazkova, Martina, Chevret, Edith, Mainhaguiet, Guillaume, Sobotka, Jiri, Vergier, Béatrice, Belaud-Rotureau, Marc-Antoine, Beylot-Barry, Marie, Merlio, Jean-Philippe
Published in Genes chromosomes & cancer (01.09.2007)
Published in Genes chromosomes & cancer (01.09.2007)
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A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas
Belaud-Rotureau, Marc-Antoine, Parrens, Marie, Dubus, Pierre, Garroste, Jean-Christophe, de Mascarel, Antoine, Merlio, Jean-Philippe
Published in Modern pathology (01.05.2002)
Published in Modern pathology (01.05.2002)
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Neyroud, Anne Sophie, Rudinger-Thirion, Joëlle, Frugier, Magali, Riley, Lisa G, Bidet, Maud, Akloul, Linda, Simpson, Andrea, Gilot, David, Christodoulou, John, Ravel, Célia, Sinclair, Andrew H, Belaud-Rotureau, Marc-Antoine, Tucker, Elena J, Jaillard, Sylvie
Published in European journal of human genetics : EJHG (01.04.2023)
Published in European journal of human genetics : EJHG (01.04.2023)
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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics
Mary, Laura, Loget, Philippe, Odent, Sylvie, Aussel, Dominique, Le Bouar, Gwenaelle, Launay, Erika, Henry, Catherine, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie
Published in Cytogenetic and genome research (01.07.2021)
Published in Cytogenetic and genome research (01.07.2021)
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Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia
Toujani, Saloua, Tucker, Elena J, Akloul, Linda, Mary, Laura, Pimentel, Céline, Launay, Erika, Freton, Lucas, Jouve, Guilhem, Henry, Catherine, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie
Published in Cytogenetic and genome research (01.10.2022)
Published in Cytogenetic and genome research (01.10.2022)
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Diagnostic and Prognostic Value of BCL2 Rearrangement in 53 Patients With Follicular Lymphoma Presenting as Primary Skin Lesions
Pham-Ledard, Anne, Cowppli-Bony, Anne, Doussau, Adélaïde, Prochazkova-Carlotti, Martina, Laharanne, Elodie, Jouary, Thomas, Belaud-Rotureau, Marc-Antoine, Vergier, Béatrice, Merlio, Jean-Philippe, Beylot-Barry, Marie
Published in American journal of clinical pathology (01.03.2015)
Published in American journal of clinical pathology (01.03.2015)
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Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia
Beaumont, Marion, Tucker, Elena J, Mary, Laura, Launay, Erika, Lurton, Yann, Pimentel, Céline, Rollier, Paul, Akloul, Linda, Beneteau, Claire, Chevallier-Bordeau, Solène, Neyroud, Anne-Sophie, Pichon, Olivier, Ravel, Célia, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie
Published in Cytogenetic and genome research (01.01.2019)
Published in Cytogenetic and genome research (01.01.2019)
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Dynamic Estrogen Receptor Interactomes Control Estrogen-Responsive Trefoil Factor (TFF) Locus Cell-Specific Activities
Quintin, Justine, Le Péron, Christine, Palierne, Gaëlle, Bizot, Maud, Cunha, Stéphanie, Sérandour, Aurélien A., Avner, Stéphane, Henry, Catherine, Percevault, Frédéric, Belaud-Rotureau, Marc-Antoine, Huet, Sébastien, Watrin, Erwan, Eeckhoute, Jérôme, Legagneux, Vincent, Salbert, Gilles, Métivier, Raphaël
Published in Molecular and cellular biology (01.07.2014)
Published in Molecular and cellular biology (01.07.2014)
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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient
Leclerc, Delphine, Goujon, Louise, Jaillard, Sylvie, Nouyou, Bénédicte, Cluzeau, Laurence, Damaj, Léna, Dubourg, Christèle, Etcheverry, Amandine, Levade, Thierry, Froissart, Roseline, Dréano, Stéphane, Guillory, Xavier, Eriksson, Leif A, Launay, Erika, Mouriaux, Frédéric, Belaud-Rotureau, Marc-Antoine, Odent, Sylvie, Gilot, David
Published in CRISPR journal (01.02.2023)
Published in CRISPR journal (01.02.2023)
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