Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency
Delhon, Laure, Mahaut, Clémentine, Goudin, Nicolas, Gaudas, Emilie, Piquand, Kevin, Le Goff, Wilfried, Cormier-Daire, Valérie, Le Goff, Carine
Published in The FASEB journal (01.02.2019)
Published in The FASEB journal (01.02.2019)
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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
Goff, Carine Le, Mahaut, Clémentine, Bottani, Armand, Doray, Berenice, Goldenberg, Alice, Moncla, Anne, Odent, Sylvie, Nitschke, Patrick, Munnich, Arnold, Faivre, Laurence, Cormier-Daire, Valérie
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Characterisation of the potential SNARE proteins relevant to milk product release by mouse mammary epithelial cells
Chat, Sophie, Layani, Sarah, Mahaut, Clémentine, Henry, Céline, Chanat, Eric, Truchet, Sandrine
Published in European journal of cell biology (01.05.2011)
Published in European journal of cell biology (01.05.2011)
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Journal Article
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
LE GOFF, Carine, MAHAUT, Clémentine, MARLIN, Sandrine, SIMON, Marleen, TOLMIE, John, VERLOES, Alain, CASANOVA, Jean-Laurent, MUNNICH, Arnold, CORMIER-DAIRE, Valérie, ABHYANKAR, Avinash, LE GOFF, Wilfried, SERRE, Valérie, AFENJAR, Alexandra, DESTREE, Anne, DI ROCCO, Maja, HERON, Delphine, JACQUEMONT, Sébastien
Published in Nature genetics (01.01.2012)
Published in Nature genetics (01.01.2012)
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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Marzin, Pauline, Rondeau, Sophie, Alessandri, Jean-Luc, Dieterich, Klaus, le Goff, Carine, Mahaut, Clémentine, Mercier, Sandra, Michot, Caroline, Moldovan, Oana, Miolo, Gianmaria, Rossi, Massimiliano, Van-Gils, Julien, Francannet, Christine, Robert, Matthieu P, Jaïs, Jean-Philippe, Huber, Céline, Cormier-Daire, Valerie
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
Garcia, Hugo, Serafin, Alice S, Silbermann, Flora, Porée, Esther, Viau, Amandine, Mahaut, Clémentine, Billot, Katy, Birgy, Éléonore, Garfa-Traore, Meriem, Roy, Stéphanie, Ceccarelli, Salomé, Mehraz, Manon, Rodriguez, Pamela C, Deleglise, Bérangère, Furio, Laetitia, Jabot-Hanin, Fabienne, Cagnard, Nicolas, Del Nery, Elaine, Fila, Marc, Sin-Monnot, Soraya, Antignac, Corinne, Lyonnet, Stanislas, Krug, Pauline, Salomon, Rémi, Annereau, Jean-Philippe, Benmerah, Alexandre, Delous, Marion, Briseño-Roa, Luis, Saunier, Sophie
Published in Proceedings of the National Academy of Sciences - PNAS (03.05.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (03.05.2022)
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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
Garcia, Hugo, Serafin, Alice S, Silbermann, Flora, Porée, Esther, Viau, Amandine, Mahaut, Clémentine, Billot, Katy, Birgy, Éléonore, Garfa-Traore, Meriem, Roy, Stéphanie, Ceccarelli, Salomé, Mehraz, Manon, Rodriguez, Pamela C, Deleglise, Bérangère, Furio, Laetitia, Jabot-Hanin, Fabienne, Cagnard, Nicolas, Del Nery, Elaine, Fila, Marc, Sin-Monnot, Soraya, Antignac, Corinne, Lyonnet, Stanislas, Krug, Pauline, Salomon, Rémi, Annereau, Jean-Philippe, Benmerah, Alexandre, Delous, Marion, Briseño-Roa, Luis, Saunier, Sophie
Published in Proceedings of the National Academy of Sciences - PNAS (03.05.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (03.05.2022)
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Journal Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (01.11.2014)
Published in European journal of human genetics : EJHG (01.11.2014)
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Journal Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, Mcgowan, Ruth, Murphy, Helen, Raas-rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, Van Den Ende, Jenneke, Van Der Aa, Nathalie, Van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-daire, Valérie
Published in European journal of human genetics : EJHG (01.11.2014)
Published in European journal of human genetics : EJHG (01.11.2014)
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Journal Article
Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (16.10.2014)
Published in European journal of human genetics : EJHG (16.10.2014)
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Journal Article
Mutations in the TGF[Beta] Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W, Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F, Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L, Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S, Munnich, Arnold, Cormier-Daire, Valérie
Published in American journal of human genetics (15.07.2011)
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Published in American journal of human genetics (15.07.2011)
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Abstract PO2-18-11: Short-term Pre-OPerative Durvalumab (MEDI 4736) in early small triple negative breast cancer patients (POP-Durva)
Ribeiro, Joana Mourato, Pic, Isabelle, Blampey, Quentin, Rassy, Elie, Ibrahimi, Nusaibah, Salabert, Laura, Trédan, Olivier, Arnedos, Monica, Dogan, Semih, Serhal, Kamar Serhal, Mahaut, Clementine, Viansone, Alessandro, Laghouati, Salim, Pistilli, Barbara, Dutertre, Charles-Antoine, Lacroix-Triki, Magali, Scoazec, Jean-Yves, Derosa, Lisa, Zitvogel, Laurence, Balleyguier, Corinne, Bercovici, Nadege, Cournede, Paul-Henry, Michiels, Stefan, André, Fabrice
Published in Cancer research (Chicago, Ill.) (02.05.2024)
Published in Cancer research (Chicago, Ill.) (02.05.2024)
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