Hasil Pencarian - Corinne Collet

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  1. 1
    Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

    Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5 oleh Noura Biha, S. M. Ghaber, M. M. Hacen, Corinne Collet

    Diterbitkan 2016-01-01
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  2. 2
    Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus

    Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus oleh Caroline Apra, Corinne Collet, Eric Arnaud, Federico Di Rocco

    Diterbitkan 2016-10-01
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  3. 3
    High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

    High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence oleh Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois

    Diterbitkan 2018-08-01
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  4. 4
    Serotonin 2B receptor (5-HT2B R) signals through prostacyclin and PPAR-ß/δ in osteoblasts.

    Serotonin 2B receptor (5-HT2B R) signals through prostacyclin and PPAR-ß/δ in osteoblasts. oleh Yasmine Chabbi-Achengli, Jean-Marie Launay, Luc Maroteaux, Marie Christine de Vernejoul, Corinne Collet

    Diterbitkan 2013-01-01
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  5. 5
    Bone analysis revealed high bone resorption in idiopathic osteoporosis in young adults

    Bone analysis revealed high bone resorption in idiopathic osteoporosis in young adults oleh Bastien Leger, Agnes Ostertag, Thomas Funck-Brentano, Caroline Marty, Corinne Collet, Martine Cohen-Solal

    Diterbitkan 2021-04-01
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  6. 6
    Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis

    Variants in the AMER1/WTX gene as a possible cause of idiopathic osteoporosis oleh Caroline Caetano, Manon Ricquebourg, Thomas Funck-Brentano, Philippe Orcel, Martine Cohen-Solal, Corinne Collet

    Diterbitkan 2021-04-01
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  7. 7
    A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

    A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease oleh France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet

    Diterbitkan 2020-10-01
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  8. 8
    Early onset idiopathic osteoporosis: digenism of wnt signaling pathway

    Early onset idiopathic osteoporosis: digenism of wnt signaling pathway oleh Carollne Caetano, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal, Corinne Collet

    Diterbitkan 2020-10-01
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  9. 9
    Inflammatory Potential of Four Different Phases of Calcium Pyrophosphate Relies on NF-κB Activation and MAPK Pathways

    Inflammatory Potential of Four Different Phases of Calcium Pyrophosphate Relies on NF-κB Activation and MAPK Pathways oleh Laure Campillo-Gimenez, Félix Renaudin, Maud Jalabert, Pierre Gras, Marjolaine Gosset, Christian Rey, Stéphanie Sarda, Corinne Collet, Corinne Collet, Martine Cohen-Solal, Martine Cohen-Solal, Christèle Combes, Frédéric Lioté, Frédéric Lioté, Hang-Korng Ea, Hang-Korng Ea

    Diterbitkan 2018-10-01
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  10. 10
    More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A

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

    Diterbitkan 2021-06-01
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  11. 11
    Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses

    Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses oleh Caroline Ea, Quentin Hennocq, Arnaud Picard, Michel Polak, Corinne Collet, Laurence Legeai-Mallet, Éric Arnaud, Giovanna Paternoster, Roman Hossein Khonsari

    Diterbitkan 2022-06-01
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  12. 12
    Lrp5 p.Val667Met Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis

    Lrp5 p.Val667Met Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis oleh Stéphanie Fabre, Morgane Bourmaud, Guillaume Mabilleau, Ruben Goulet, Aude Couturier, Alexandre Dentel, Serge Picaud, Thomas Funck‐Brentano, Corinne Collet, Martine Cohen‐Solal

    Diterbitkan 2023-06-01
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  13. 13
    Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

    Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre oleh Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard

    Diterbitkan 2022-06-01
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  14. 14
    A Zebrafish Mutant in the Extracellular Matrix Protein Gene <i>efemp1</i> as a Model for Spinal Osteoarthritis

    A Zebrafish Mutant in the Extracellular Matrix Protein Gene <i>efemp1</i> as a Model for Spinal Osteoarthritis oleh Ratish Raman, Mohamed Ali Bahri, Christian Degueldre, Caroline Caetano da Silva, Christelle Sanchez, Agnes Ostertag, Corinne Collet, Martine Cohen-Solal, Alain Plenevaux, Yves Henrotin, Marc Muller

    Diterbitkan 2023-12-01
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  15. 15
    Cherubism: A systemic skeletal disease? About a case report

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

    Diterbitkan 2020-10-01
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  16. 16
    Cherubism as a systemic skeletal disease: evidence from an aggressive case

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

    Diterbitkan 2020-08-01
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  17. 17
    The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis

    The Osteoblast Transcriptome in Developing Zebrafish Reveals Key Roles for Extracellular Matrix Proteins Col10a1a and Fbln1 in Skeletal Development and Homeostasis oleh Ratish Raman, Mishal Antony, Renaud Nivelle, Arnaud Lavergne, Jérémie Zappia, Gustavo Guerrero-Limón, Caroline Caetano da Silva, Priyanka Kumari, Jerry Maria Sojan, Christian Degueldre, Mohamed Ali Bahri, Agnes Ostertag, Corinne Collet, Martine Cohen-Solal, Alain Plenevaux, Yves Henrotin, Jörg Renn, Marc Muller

    Diterbitkan 2024-01-01
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