检索结果 - Belinda Campos‐Xavier

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  1. 1
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia 由 Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    出版 2015
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  2. 2
    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia 由 Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, A Baxová, Karl‐Henrik Gustavson, Zvi Borochowitz, A. Micheil Innes, Sheila Unger, J. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti‐Furga, Ravi Savarirayan, Luisa Bonafé

    出版 2009
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  3. 3
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP 由 Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    出版 2011
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  4. 4
    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene 由 Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C. Engle, Sheila Unger, Frederic Shapiro, Andrea Superti‐Furga, Carlo Rivolta, Belinda Campos‐Xavier

    出版 2019
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  5. 5
    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease 由 Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori, Sheila Unger, Eric Hesse, Kei Yamana, Riku Kiviranta, Nicolas Solban, Jeff Liu, Robert Brommage, Koray Boduroğlu, Luisa Bonafé, Belinda Campos‐Xavier, Esra Dikoglu, Richard Eastell, Fatma Gossiel, Keith Harshman, Gen Nishimura, Katta M. Girisha, Brian J. Stevenson, Hiroyuki Takita, Carlo Rivolta, Andrea Superti‐Furga, Roland Baron

    出版 2016
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  6. 6
    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development 由 Sheila Unger, Maria W. Górna, Antony Le Béchec, Sónia do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniené, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos‐Xavier, Luisa Bonafé, Giulio Superti‐Furga, Brian J. Stevenson, Andrea Superti‐Furga

    出版 2013
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  7. 7
    Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

    Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome 由 Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm, Belinda Campos‐Xavier, Luisa Bonafé, Andrea Superti‐Furga, Shiro Ikegawa, Valérie Cormier‐Daire, Judith V.M.G. Bovée, Twinkal C. Pansuriya, Sérgio B. Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M. Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P. Kozakewich, James R. Kasser, J.G. Seidman, Kyle C. Kurek, Matthew L. Warman

    出版 2011
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  8. 8
    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity 由 Eric D. Boyden, Belinda Campos‐Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine M Hall, Shiro Ikegawa, Pierre‐Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard H. Scott, Sheila Unger, Eugênia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti‐Furga, Luisa Bonafé

    出版 2011
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  9. 9
    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator 由 Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Béryl Royer‐Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck‐Martins, Daniel R. Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos‐Xavier, Carole Chiesa, Florence Niel‐Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I. Robson, Alessa R. Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A. Prada‐Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti‐Furga

    出版 2021
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  10. 10
    NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    NANS-mediated synthesis of sialic acid is required for brain and skeletal development 由 Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga

    出版 2016
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