Search Results - Luisa Bonafé

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  1. 1
    Current Care and Investigational Therapies in Achondroplasia

    Current Care and Investigational Therapies in Achondroplasia by Sheila Unger, Luisa Bonafé, Elvire Gouze

    Published 2017
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    Revisão
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  2. 2
    Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

    Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia by Luisa Bonafé, Beat Thöny, Johann Penzien, B Czarnecki, Nenad Blau

    Published 2001
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  3. 3
    Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

    Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts by Luisa Bonafé, Beat Thöny, W. Leimbacher, L. Kierat, Nenad Blau

    Published 2001
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  4. 4
    Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives

    Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives by Aline Bregou Bourgeois, Bérengère Aubry‐Rozier, Luisa Bonafé, Lee Ann Laurent‐Applegate, Dominique P. Pioletti, Pierre‐Yves Zambelli

    Published 2016
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  5. 5
    Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling

    Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling by Mariana Capurro, Tomomi Izumikawa, Philippe Suarez, Wen Shi, Marzena Cydzik, Tomoyuki Kaneiwa, Jean Gariépy, Luisa Bonafé, Jorge Filmus

    Published 2017
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  6. 6
    Torg Syndrome Is Caused by Inactivating Mutations in <i>MMP2</i> and Is Allelic to NAO and Winchester Syndrome

    Torg Syndrome Is Caused by Inactivating Mutations in <i>MMP2</i> and Is Allelic to NAO and Winchester Syndrome by Andreas Zankl, Lauren M. Pachman, Andrew K. Poznanski, Luisa Bonafé, Fengqiang Wang, Yelena Shusterman, David A. Fishman, Andrea Superti‐Furga

    Published 2006
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  7. 7
    Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

    Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors by Julie Deuquet, Ekkehart Lausch, Nicolas Guex, Laurence Abrami, Suzanne Salvi, Asvin KK Lakkaraju, Maria Celeste M. Ramirez, John A. Martignetti, Dariusz Rokicki, Luisa Bonafé, Andrea Superti‐Furga, Gijs R. van den Brink

    Published 2011
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  8. 8
    Nosology and classification of genetic skeletal disorders: 2015 revision

    Nosology and classification of genetic skeletal disorders: 2015 revision by Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger

    Published 2015
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  9. 9
    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis by Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Pérez Aytés, H. Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, M. Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen W. Spranger, Bernhard Zabel, Andrea Superti‐Furga

    Published 2008
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  10. 10
    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome by Brian Kelley, Fransiska Malfait, Luisa Bonafé, Dustin Baldridge, Erica P. Homan, Sofie Symoens, Andy Willaert, Nursel Elçioğlu, Lionel Van Maldergem, Christine Verellen‐Dumoulin, Y. Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti‐Furga, Anne De Paepe, Brendan Lee

    Published 2010
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  11. 11
    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 by 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

    Published 2015
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  12. 12
    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 by 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

    Published 2009
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  13. 13
    Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

    Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis by Oonagh Dowling, Analisa DiFeo, Maria Celeste M. Ramirez, Turgut Tükel, Goutham Narla, Luisa Bonafé, Hülya Kayserili, Memnune Yüksel‐Apak, Amy S. Paller, Karen I. Norton, Ahmad S. Teebi, Valerie Grum‐Tokars, Gail S. Martin, George E. Davis, Marc Glucksman, John A. Martignetti

    Published 2003
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  14. 14
    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 by 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

    Published 2011
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  15. 15
    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... by Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor, Geert Mortier, J Spranger, Bernhard Zabel, Martine Le Merrer, Valérie Cormier‐Daire, Christine M Hall, Amaka C Offiah, Michael Wright, Ravi Savarirayan, Gen Nishimura, Simon Ramsden, Rob Elles, Luisa Bonafé, Andrea Superti‐Furga, Sheila Unger, Andreas Zankl, Michael D. Briggs

    Published 2011
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  16. 16
    Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

    Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210 by Patrick Smits, Andrew D. Bolton, Vincent Funari, Minh Hong, Eric D. Boyden, Lei Lü, Danielle K. Manning, Noelle D. Dwyer, Jennifer L. Moran, Mary Prysak, Barry Merriman, Stanley F. Nelson, Luisa Bonafé, Andrea Superti‐Furga, Shiro Ikegawa, Deborah Krakow, Daniel H. Cohn, Tomas Kirchhausen, Matthew L. Warman, David R. Beier

    Published 2010
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  17. 17
    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease by 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

    Published 2016
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  18. 18
    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

    FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development by 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

    Published 2013
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  19. 19
    The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

    The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloísa G. dos Santos, Luisa Bonafé, Russia Hà-Vinh Leuchter, Andreas Zankl, Sheila Unger, Marius Kraenzlin, J. Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti‐Furga, Toshio Hirano

    Published 2008
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  20. 20
    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis by Deborah Krakow, Stephen P. Robertson, Lily King, Timothy Morgan, Eiman Sebald, Corine Bertolotto, Sebastian Wachsmann‐Hogiu, Dora Acuña, Sandor S. Shapiro, Toshiro Takafuta, Salim Aftimos, Chong Ae Kim, Helen V. Firth, Carlos Eduardo Steiner, Valérie Cormier‐Daire, Andrea Superti‐Furga, Luisa Bonafé, John M. Graham, Arthur Grix, Carlos A. Bacino, Judith Allanson, Martin G. Bialer, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

    Published 2004
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