Search Results - "Ricquebourg, Manon"

Cherubism as a systemic skeletal disease: evidence from an aggressive case by Morice, Anne, Joly, Aline, Ricquebourg, Manon, Maruani, Gérard, Durand, Emmanuel, Galmiche, Louise, Amiel, Jeanne, Vial, Yoann, Cavé, Hélène, Belhous, Kahina, Piketty, Marie, Cohen-Solal, Martine, Berdal, Ariane, Collet, Corinne, Picard, Arnaud, Coudert, Amelie E, Kadlub, Natacha

“…Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with…”
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Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis by Caetano, Caroline, Ricquebourg, Manon, Funck-Brentano, Thomas, Orcel, Philippe, Cohen-Solal, Martine, Collet, Corinne

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More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A by Caetano da Silva, Caroline, Ricquebourg, Manon, Orcel, Philippe, Fabre, Stéphanie, Funck‐Brentano, Thomas, Cohen‐Solal, Martine, Collet, Corinne

“…Background Early‐onset osteoporosis (EOOP) is defined by low bone mineral density (BMD), which increases the risk of fracture. Although the prevalence of…”
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Early onset idiopathic osteoporosis: digenism of wnt signaling pathway by Caetano, Carollne, Ricquebourg, Manon, Orcel, Philippe, Fabre, Stéphanie, Brentano, Thomas Funck, Solal, Martine Cohen, Collet, Corinne

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Cherubism: A systemic skeletal disease? About a case report by Morice, Anne, Ricquebourg, Manon, Joly, Aline, Maruani, Gérard, Durand, Emmanuel, Galmiche, Louise, Amiel, Jeanne, Vial, Yoan, Belhous, Kahina, Piketty, Marie, Cohen-Solal, Martine, Berdal, Ariane, Collet, Corinne, Picard, Arnaud, Kadlub, Natacha, Coudert, Amélie

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WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis by Caetano da Silva, Caroline, Edouard, Thomas, Fradin, Melanie, Aubert-Mucca, Marion, Ricquebourg, Manon, Raman, Ratish, Salles, Jean Pierre, Charon, Valérie, Guggenbuhl, Pascal, Muller, Marc, Cohen-Solal, Martine, Collet, Corinne

“…Monogenic early onset osteoporosis (EOOP) is a rare disease defined by low bone mineral density (BMD) that results in increased risk of fracture in children…”
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Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy by Bloch, Adrien, Couture, Guillaume, Isidor, Bertrand, Ricquebourg, Manon, Bourrat, Emmanuelle, Lipsker, Dan, Taillan, Bruno, Combier, Alice, Chiaverini, Christine, Moufle, Frédérique, Delobel, Bruno, Richette, Pascal, Collet, Corinne

“…Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and…”
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Bacterial host and reporter gene optimization for genetically encoded whole cell biosensors by Brutesco, Catherine, Prévéral, Sandra, Escoffier, Camille, Descamps, Elodie C. T., Prudent, Elsa, Cayron, Julien, Dumas, Louis, Ricquebourg, Manon, Adryanczyk-Perrier, Géraldine, de Groot, Arjan, Garcia, Daniel, Rodrigue, Agnès, Pignol, David, Ginet, Nicolas

“…Whole-cell biosensors based on reporter genes allow detection of toxic metals in water with high selectivity and sensitivity under laboratory conditions;…”
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Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes by Collet, Corinne, Ostertag, Agnès, Ricquebourg, Manon, Delecourt, Marine, Tueur, Giulia, Isidor, Bertrand, Guillot, Pascale, Schaefer, Elise, Javier, Rose-Marie, Funck-Brentano, Thomas, Orcel, Philippe, Laplanche, Jean-Louis, Cohen-Solal, Martine

“…Genetic determinants contribute to osteoporosis and enhance the risk of fracture. Genomewide association studies of unselected population-based individuals or…”
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