Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Van Gils, Julien, Magdinier, Frederique, Fergelot, Patricia, Lacombe, Didier
Published in Genes (24.06.2021)
Published in Genes (24.06.2021)
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CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
de Thonel, Aurélie, Ahlskog, Johanna K., Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L., Naceri, Sarah, Cordonnier, Marine, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina, Puustinen, Mikael C., Miozzo, Federico, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica, Garrido, Carmen, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea, Mezger, Valérie
Published in Nature communications (16.11.2022)
Published in Nature communications (16.11.2022)
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Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
de Thonel, Aurélie, Ahlskog, Johanna K., Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L., Naceri, Sarah, Cordonnier, Marine, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina, Puustinen, Mikael C., Miozzo, Federico, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica, Garrido, Carmen, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea, Mezger, Valérie
Published in Nature communications (28.09.2023)
Published in Nature communications (28.09.2023)
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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency
Joly, Philippe, Vignaud, Hélène, Di Martino, Julie, Ruiz, Mathias, Garin, Roman, Restier, Lioara, Belmalih, Abdelouahed, Marchal, Christelle, Cullin, Christophe, Arveiler, Benoit, Fergelot, Patricia, Gitler, Aaron D, Lachaux, Alain, Couthouis, Julien, Bouchecareilh, Marion
Published in PloS one (15.06.2017)
Published in PloS one (15.06.2017)
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Published in International journal of molecular sciences (05.02.2022)
Published in International journal of molecular sciences (05.02.2022)
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Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, Albuisson, Juliette
Published in Orphanet journal of rare diseases (04.12.2021)
Published in Orphanet journal of rare diseases (04.12.2021)
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Description of 2 angiogenic phenotypes in clear cell renal cell carcinoma
Edeline, Julien, MD, Mottier, Stéphanie, BSc, Vigneau, Cécile, MD, PhD, Jouan, Florence, Perrin, Christophe, MD, Zerrouki, Selim, MD, Fergelot, Patricia, MD, Patard, Jean-Jacques, MD, PhD, Rioux-Leclercq, Nathalie, MD, PhD
Published in Human pathology (01.11.2012)
Published in Human pathology (01.11.2012)
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations
Van‐Gils, Julien, Naudion, Sophie, Toutain, Jérôme, Lancelot, Gwenaelle, Attié‐Bitach, Tania, Blesson, Sophie, Demeer, Bénédicte, Doray, Bérénice, Gonzales, Marie, Martinovic, Jelena, Whalen, Sandra, Taine, Laurence, Arveiler, Benoit, Lacombe, Didier, Fergelot, Patricia
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariëtte J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Cytoplasmic PAR-3 protein expression is associated with adverse prognostic factors in clear cell renal cell carcinoma and independently impacts survival
Dagher, Julien, MBBS, Dugay, Frédéric, PharmD, Rioux-Leclercq, Nathalie, MD, PhD, Verhoest, Gregory, MD, Oger, Emmanuel, MD, PhD, Bensalah, Karim, MD, PhD, Cabillic, Florian, PharmD, PhD, Jouan, Florence, MILT, Kammerer-Jacquet, Solene-Florence, MD, Fergelot, Patricia, MD, PhD, Vigneau, Cécile, MD, PhD, Arlot-Bonnemains, Yannick, PhD, Belaud-Rotureau, Marc-Antoine, PharmD, PhD
Published in Human pathology (01.08.2014)
Published in Human pathology (01.08.2014)
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Germline mosaicism in Rubinstein–Taybi syndrome
Tajir, Mariam, Fergelot, Patricia, Lancelot, Guenaelle, Elalaoui, Siham Chafai, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz
Published in Gene (15.04.2013)
Published in Gene (15.04.2013)
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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Moutton, Sébastien, Fergelot, Patricia, Naudion, Sophie, Cordier, Marie-Pierre, Solé, Guilhem, Guerineau, Elodie, Hubert, Christophe, Rooryck, Caroline, Vuillaume, Marie-Laure, Houcinat, Nada, Deforges, Julie, Bouron, Julie, Devès, Sylvie, Le Merrer, Martine, David, Albert, Geneviève, David, Giuliano, Fabienne, Journel, Hubert, Megarbane, André, Faivre, Laurence, Chassaing, Nicolas, Francannet, Christine, Sarrazin, Elisabeth, Stattin, Eva-Lena, Vigneron, Jacqueline, Leclair, Danielle, Abadie, Caroline, Sarda, Pierre, Baumann, Clarisse, Delrue, Marie-Ange, Arveiler, Benoit, Lacombe, Didier, Goizet, Cyril, Coupry, Isabelle
Published in Journal of human genetics (01.08.2016)
Published in Journal of human genetics (01.08.2016)
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Update on the Medical Treatment of Metastatic Renal Cell Carcinoma
Ravaud, Alain, Wallerand, Hervé, Culine, Stéphane, Bernhard, Jean-Christophe, Fergelot, Patricia, Bensalah, Karim, Patard, Jean-Jacques
Published in European urology (01.08.2008)
Published in European urology (01.08.2008)
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Identification of pVHL as a novel substrate for Aurora-A in clear cell renal cell carcinoma (ccRCC)
Martin, Benedicte, Chesnel, Franck, Delcros, Jean-Guy, Jouan, Florence, Couturier, Anne, Dugay, Frederic, Le Goff, Xavier, Patard, Jean-Jacques, Fergelot, Patricia, Vigneau, Cecile, Rioux-Leclerq, Nathalie, Arlot-Bonnemains, Yannick
Published in PloS one (13.06.2013)
Published in PloS one (13.06.2013)
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Correction: Identification of pVHL as a Novel Substrate for Aurora-A in Clear Cell Renal Cell Carcinoma (ccRCC)
Martin, Benedicte, Chesnel, Franck, Delcros, Jean-Guy, Jouan, Florence, Couturier, Anne, Dugay, Frederic, Le Goff, Xavier, Patard, Jean-Jacques, Fergelot, Patricia, Vigneau, Cecile, Rioux-Leclerq, Nathalie, Arlot-Bonnemains, Yannick
Published in PloS one (03.01.2014)
Published in PloS one (03.01.2014)
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Identification of Pro-MMP-7 as a Serum Marker for Renal Cell Carcinoma by Use of Proteomic Analysis
Sarkissian, Gaiane, Fergelot, Patricia, Lamy, Pierre-Jean, Patard, Jean-Jacques, Culine, Stephane, Jouin, Patrick, Rioux-Leclercq, Nathalie, Darbouret, Bruno
Published in Clinical chemistry (Baltimore, Md.) (01.03.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2008)
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Plasma level and tissue expression of vascular endothelial growth factor in renal cell carcinoma: a prospective study of 50 cases
Rioux-Leclercq, Nathalie, MD, PhD, Fergelot, Patricia, MD, PhD, Zerrouki, Salim, MD, Leray, Emmanuelle, MD, Jouan, Florence, Bellaud, Pascale, Epstein, Jonathan I., MD, Patard, Jean-Jacques, MD
Published in Human pathology (01.10.2007)
Published in Human pathology (01.10.2007)
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Paraffin-embedded tissue is less accurate than frozen section analysis for determining VHL mutational status in sporadic renal cell carcinoma
Verhoest, Grégory, M.D, Patard, Jean-Jacques, M.D., Ph.D, Fergelot, Patricia, M.D, Jouan, Florence, Zerrouki, Salim, M.D, Dreano, Stéphane, Mottier, Stéphanie, Rioux-Leclercq, Nathalie, M.D., Ph.D, Denis, Marc G., M.D., Ph.D
Published in Urologic oncology (01.07.2012)
Published in Urologic oncology (01.07.2012)
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