Works matching AU Belaud-Rotureau, Marc-Antoine

Results: 36
    1

    Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1443, doi. 10.1002/humu.24432
    By:
    • 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;
    • van van den Bergen, Jocelyn;
    • Ayers, Katie L.;
    • Sinclair, Andrew H.;
    • Dötsch, Volker;
    • Jaillard, Sylvie
    Publication type:
    Article
    2
    3

    Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

    Published in:
    Andrology, 2022, v. 10, n. 8, p. 1625, doi. 10.1111/andr.13279
    By:
    • Capron, Céline;
    • Januel, Louis;
    • Vieville, Gaëlle;
    • Jaillard, Sylvie;
    • Kuentz, Paul;
    • Salaun, Gaëlle;
    • Nadeau, Gwenaël;
    • Clement, Patrice;
    • Brechard, Marie Pierre;
    • Herve, Bérénice;
    • Dupont, Jean Michel;
    • Gruchy, Nicolas;
    • Chambon, Pascal;
    • Abdelhedi, Fatma;
    • Dahlen, Eric;
    • Vago, Philippe;
    • Harbuz, Radu;
    • Plotton, Ingrid;
    • Coutton, Charles;
    • Belaud‐Rotureau, Marc‐Antoine
    Publication type:
    Article
    4

    Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.

    Published in:
    Genes, 2023, v. 14, n. 2, p. 273, doi. 10.3390/genes14020273
    By:
    • 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
    Publication type:
    Article
    5

    Correlation of c-MET Expression with PD-L1 Expression in Metastatic Clear Cell Renal Cell Carcinoma Treated by Sunitinib First-Line Therapy.

    Published in:
    2017
    By:
    • Kammerer-Jacquet, Solène-Florence;
    • Medane, Sarah;
    • Bensalah, Karim;
    • Bernhard, Jean-Christophe;
    • Yacoub, Mokrane;
    • Dupuis, Frantz;
    • Ravaud, Alain;
    • Verhoest, Grégory;
    • Mathieu, Romain;
    • Peyronnet, Benoit;
    • Brunot, Angélique;
    • Laguerre, Brigitte;
    • Lespagnol, Alexandra;
    • Mosser, Jean;
    • Dugay, Frédéric;
    • Belaud-Rotureau, Marc-Antoine;
    • Rioux-Leclercq, Nathalie;
    • Kammerer-Jacquet, Solène-Florence;
    • Verhoest, Grégory;
    • Brunot, Angélique
    Publication type:
    journal article
    6
    7

    Common chromosomal abnormalities in mycosis fungoides transformation.

    Published in:
    Genes, Chromosomes & Cancer, 2007, v. 46, n. 9, p. 828, doi. 10.1002/gcc.20469
    By:
    • Prochazkova, Martina;
    • Chevret, Edith;
    • Mainhaguiet, Guillaume;
    • Sobotka, Jiri;
    • Vergier, Béatrice;
    • Belaud-Rotureau, Marc-Antoine;
    • Beylot-Barry, Marie;
    • Merlio, Jean-Philippe
    Publication type:
    Article
    8
    9
    10
    11

    Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63924
    By:
    • Lokchine, Anna;
    • Bergougnoux, Anne;
    • Servant, Nadège;
    • Akloul, Linda;
    • Launay, Erika;
    • Mary, Laura;
    • Cluzeau, Laurence;
    • Philippe, Mathieu;
    • Domin‐Bernhard, Mathilde;
    • Duros, Solène;
    • Odent, Sylvie;
    • Tucker, Elena;
    • Paris, Françoise;
    • Belaud‐Rotureau, Marc‐Antoine;
    • Jaillard, Sylvie
    Publication type:
    Article
    12

    Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
    By:
    • 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
    Publication type:
    Article
    13
    14

    Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

    Published in:
    Acta Obstetricia et Gynecologica Scandinavica, 2025, v. 104, n. 3, p. 514, doi. 10.1111/aogs.14985
    By:
    • Cospain, Auriane;
    • Dion, Ludivine;
    • Bidet, Maud;
    • Nyangoh Timoh, Krystel;
    • Quelin, Chloé;
    • Carton, Isis;
    • Lavillaureix, Alinoe;
    • Morcel, Karine;
    • Rollier, Paul;
    • Pasquier, Laurent;
    • Nouyou, Bénédicte;
    • Odent, Sylvie;
    • Guerrier, Daniel;
    • Launay, Erika;
    • Belaud Rotureau, Marc‐Antoine;
    • Fradin, Mélanie;
    • Jaillard, Sylvie;
    • Lavoué, Vincent
    Publication type:
    Article
    15

    Independent association of PD-L1 expression with noninactivated VHL clear cell renal cell carcinoma-A finding with therapeutic potential.

    Published in:
    International Journal of Cancer, 2017, v. 140, n. 1, p. 142, doi. 10.1002/ijc.30429
    By:
    • Kammerer‐Jacquet, Solène‐Florence;
    • Crouzet, Laurence;
    • Brunot, Angélique;
    • Dagher, Julien;
    • Pladys, Adélaïde;
    • Edeline, Julien;
    • Laguerre, Brigitte;
    • Peyronnet, Benoit;
    • Mathieu, Romain;
    • Verhoest, Grégory;
    • Patard, Jean‐Jacques;
    • Lespagnol, Alexandra;
    • Mosser, Jean;
    • Denis, Marc;
    • Messai, Yosra;
    • Gad‐Lapiteau, Sophie;
    • Chouaib, Salem;
    • Belaud‐Rotureau, Marc‐Antoine;
    • Bensalah, Karim;
    • Rioux‐Leclercq, Nathalie
    Publication type:
    Article
    16
    17
    18
    19

    Dynamic Estrogen Receptor Interactomes Control Estrogen-Responsive Trefoil Factor (TFF) Locus Cell-Specific Activities.

    Published in:
    Molecular & Cellular Biology, 2014, v. 34, n. 13, p. 2418, doi. 10.1128/MCB.00918-13
    By:
    • 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
    Publication type:
    Article
    20

    Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity.

    Published in:
    Virchows Archiv: European Journal of Pathology, 2021, v. 478, n. 4, p. 793, doi. 10.1007/s00428-020-02910-9
    By:
    • Gournay, Marjorie;
    • Dugay, Frédéric;
    • Belaud-Rotureau, Marc-Antoine;
    • Peyronnet, Benoit;
    • Mathieu, Romain;
    • Verhoest, Gregory;
    • Bensalah, Karim;
    • Odent, Sylvie;
    • Denizeau, Philippe;
    • Vigneau, Cécile;
    • Morini, Aurélien;
    • Rioux-Leclercq, Nathalie;
    • Kammerer-Jacquet, Solène-Florence
    Publication type:
    Article
    21
    22

    Comprehensive study of nine novel cases of TFEB‐amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression.

    Published in:
    Histopathology, 2022, v. 81, n. 2, p. 228, doi. 10.1111/his.14683
    By:
    • Kammerer‐Jacquet, Solène‐Florence;
    • Gandon, Camille;
    • Dugay, Frederic;
    • Laguerre, Brigitte;
    • Peyronnet, Benoit;
    • Mathieu, Romain;
    • Verhoest, Grégory;
    • Bensalah, Karim;
    • Leroy, Xavier;
    • Aubert, Sebastien;
    • Vermaut, Catherine;
    • Escande, Fabienne;
    • Verkarre, Virginie;
    • Compérat, Eva;
    • Ambrosetti, Damien;
    • Pedeutour, Florence;
    • Belaud‐Rotureau, Marc‐Antoine;
    • Rioux‐Leclercq, Nathalie
    Publication type:
    Article
    23
    24
    25
    26
    27
    28

    STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

    Published in:
    Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
    By:
    • Jaillard, Sylvie;
    • McElreavy, Kenneth;
    • Robevska, Gorjana;
    • Akloul, Linda;
    • Ghieh, Farah;
    • Sreenivasan, Rajini;
    • Beaumont, Marion;
    • Bashamboo, Anu;
    • Bignon-Topalovic, Joelle;
    • Neyroud, Anne-Sophie;
    • Bell, Katrina;
    • Veron-Gastard, Elisabeth;
    • Launay, Erika;
    • van den Bergen, Jocelyn;
    • Nouyou, Bénédicte;
    • Vialard, François;
    • Belaud-Rotureau, Marc-Antoine;
    • Ayers, Katie L;
    • Odent, Sylvie;
    • Ravel, Célia
    Publication type:
    Article
    29
    30
    31

    Immunotherapy in Renal Cell Carcinoma: The Future Is Now.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2532, doi. 10.3390/ijms21072532
    By:
    • 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
    Publication type:
    Article
    32

    Targeting the PD-1/PD-L1 Pathway in Renal Cell Carcinoma.

    Published in:
    International Journal of Molecular Sciences, 2019, v. 20, n. 7, p. 1692, doi. 10.3390/ijms20071692
    By:
    • Kammerer-Jacquet, Solène-Florence;
    • Rioux-Leclercq, Nathalie;
    • Saout, Judikaël;
    • Mathieu, Romain;
    • Dugay, Frédéric;
    • Belaud-Rotureau, Marc-Antoine;
    • Deleuze, Antoine;
    • Laguerre, Brigitte;
    • Verhoest, Gregory;
    • Bensalah, Karim
    Publication type:
    Article
    33

    5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
    By:
    • 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
    Publication type:
    Article
    34
    35

    MLL-SEPT5 fusion transcript in infant acute myeloid leukemia with t(11;22)(q23;q11).

    Published in:
    Leukemia & Lymphoma, 2014, v. 55, n. 3, p. 662, doi. 10.3109/10428194.2013.809528
    By:
    • Launay, Erika;
    • Henry, Catherine;
    • Meyer, Claus;
    • Chappé, Céline;
    • Taque, Sophie;
    • Boulland, Marie-Laure;
    • Ben Abdelali, Raouf;
    • Dugay, Frédéric;
    • Marschalek, Rolf;
    • Bastard, Christian;
    • Fest, Thierry;
    • Gandemer, Virginie;
    • Belaud-Rotureau, Marc-Antoine
    Publication type:
    Article
    36