Search Results - "Mahaut, Clémentine"

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency by Delhon, Laure, Mahaut, Clémentine, Goudin, Nicolas, Gaudas, Emilie, Piquand, Kevin, Le Goff, Wilfried, Cormier-Daire, Valérie, Le Goff, Carine

“…ABSTRACT Mutations in the a disintegrin and metalloproteinase with thrombospondin motif–like 2 (ADAMTSL2) gene are responsible for the autosomal recessive form…”
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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP by Goff, Carine Le, Mahaut, Clémentine, Bottani, Armand, Doray, Berenice, Goldenberg, Alice, Moncla, Anne, Odent, Sylvie, Nitschke, Patrick, Munnich, Arnold, Faivre, Laurence, Cormier-Daire, Valérie

“…ABSTRACT Floating‐Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We…”
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Characterisation of the potential SNARE proteins relevant to milk product release by mouse mammary epithelial cells by Chat, Sophie, Layani, Sarah, Mahaut, Clémentine, Henry, Céline, Chanat, Eric, Truchet, Sandrine

“…Casein micelles and fat globules are essential components of milk and are both secreted at the apical side of mammary epithelial cells during lactation. Milk…”
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias by 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

“…Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities,…”
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome by Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie

“…Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short…”
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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature by 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

“…Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is…”
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Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies by 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

“…Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of…”
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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies by 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

“…Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of…”
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients by 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

“…Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified…”
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients by 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

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Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients by 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

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Mutations in the TGF[Beta] Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias by 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

“…Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities,…”
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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) by 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

“…Abstract Background: Immune checkpoint inhibitors (ICIs) are one of the major therapeutic advancements in cancer treatment. Anti-programmed cell death protein…”
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