Результати пошуку - Shoji Ichikawa

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  1. 1
    A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive

    A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive за авторством Shoji Ichikawa, Kenneth W. Lyles, Michael J. Econs

    Опубліковано 2005
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  2. 2
    Intronic Deletions in the<i>SLC34A3</i>Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Intronic Deletions in the<i>SLC34A3</i>Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria за авторством Shoji Ichikawa, Andrea H. Sorenson, Erik A. Imel, Nancy Friedman, Joseph M. Gertner, Michael J. Econs

    Опубліковано 2006
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  3. 3
    Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression

    Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression за авторством Shoji Ichikawa, Andrea H. Sorenson, Anthony M. Austin, Donald S. Mackenzie, Timothy A. Fritz, Akira Moh, Siu L. Hui, Michael J. Econs

    Опубліковано 2009
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  4. 4
    Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the<i>GALNT3</i>Gene

    Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the<i>GALNT3</i>Gene за авторством Shoji Ichikawa, Erik A. Imel, Andrea H. Sorenson, Rebecca Severe, Paul E. Knudson, Gerald J. Harris, Joseph Shaker, Michael J. Econs

    Опубліковано 2006
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  5. 5
    Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

    Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets за авторством Shoji Ichikawa, Elizabeth A. Traxler, Selina A. Estwick, Leah R. Curry, Michelle L. Johnson, Andrea H. Sorenson, Erik A. Imel, Michael J. Econs

    Опубліковано 2008
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  6. 6
    Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

    Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations за авторством Shoji Ichikawa, Vincent Guigonis, Erik A. Imel, Mélanie Courouble, Sophie Heissat, John Henley, Andrea H. Sorenson, Barbara Petit, Anne Lienhardt, Michael J. Econs

    Опубліковано 2007
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  7. 7
    A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

    A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis за авторством Shoji Ichikawa, Erik A. Imel, Mary L. Kreiter, Xijie Yu, Donald S. Mackenzie, Andrea H. Sorenson, Regina Goetz, Moosa Mohammadi, Kenneth E. White, Michael J. Econs

    Опубліковано 2007
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  8. 8
    Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

    Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies за авторством Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher Romero, Shoji Ichikawa, Emily Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, Rachel I. Gafni

    Опубліковано 2018
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  9. 9
    Contribution of the <i>LRP5</i> Gene to Normal Variation in Peak BMD in Women

    Contribution of the <i>LRP5</i> Gene to Normal Variation in Peak BMD in Women за авторством Daniel L. Koller, Shoji Ichikawa, Michelle L. Johnson, Dongbing Lai, Xiaoling Xuei, Howard J. Edenberg, P. Michael Conneally, Siu L. Hui, C. Conrad Johnston, Munro Peacock, Tatiana Foroud, Michael J. Econs

    Опубліковано 2005
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  10. 10
    FGF23 is elevated in multiple myeloma and increases heparanase expression by tumor cells

    FGF23 is elevated in multiple myeloma and increases heparanase expression by tumor cells за авторством Attaya Suvannasankha, Douglas R. Tompkins, Donna M. Edwards, Katarina V. Petyaykina, Colin D. Crean, Pierrick G.J. Fournier, Jamie M. Parker, George E. Sandusky, Shoji Ichikawa, Erik A. Imel, John M. Chirgwin

    Опубліковано 2015
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  11. 11
    Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women

    Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women за авторством Daniel L. Koller, Shoji Ichikawa, Dongbing Lai, Leah R. Padgett, Kimberly F. Doheny, Elizabeth Pugh, Justin Paschall, Siu L. Hui, Howard J. Edenberg, Xiaoling Xuei, Munro Peacock, Michael J. Econs, Tatiana Foroud

    Опубліковано 2010
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  12. 12
    Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

    Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation за авторством Kenneth E. White, J. M. Segura Cabral, Siobhan I. Davis, Tonya Fishburn, W. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil McLellan, C McKeown, David Fitzpatrick, Kai Yu, David M. Ornitz, Michael J. Econs

    Опубліковано 2005
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  13. 13
    Clinical variability of familial tumoral calcinosis caused by novel <i>GALNT3</i> mutations

    Clinical variability of familial tumoral calcinosis caused by novel <i>GALNT3</i> mutations за авторством Shoji Ichikawa, Geneviève Baujat, Aksel Seyahi, Anastasia G. Garoufali, Erik A. Imel, Leah R. Padgett, Anthony M. Austin, Andrea H. Sorenson, Zagorka Péjin, Vicken Topouchian, Pierre Quartier, Valérie Cormier‐Daire, M Déchaux, Fotini Malandrinou, P.N. Singhellakis, Martine Le Merrer, Michael J. Econs

    Опубліковано 2010
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  14. 14
    Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

    Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects за авторством Y. Yamazaki, Akihiro Imura, Itaru Urakawa, Takashi Shimada, Junko Murakami, Yukiko Aono, Hisashi Hasegawa, Takeyoshi Yamashita, Kimihiko Nakatani, Yoshihiko Saito, Nozomi Okamoto, Norio Kurumatani, Noriyuki Namba, Taichi Kitaoka, Keiichi Ozono, Tomoyuki Sakai, Hiroshi Hataya, Shoji Ichikawa, Erik A. Imel, Michael J. Econs, Y Nabeshima

    Опубліковано 2010
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  15. 15
    Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

    Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome за авторством Mary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach‐Mansky, Felasfa M. Wodajo, Shoji Ichikawa, Michael J. Econs, Kenneth E. White, Alfredo Molinolo, Marcus Y. Chen, Theo Heller, Jaydira Del Rivero, Patricia Seo-Mayer, Bita Arabshahi, Malaka B. Jackson, Sarah Hatab, Edward F. McCarthy, Lori C. Guthrie, Beth A Brillante, Rachel I. Gafni, Michael T. Collins

    Опубліковано 2016
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  16. 16
    Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

    Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis за авторством Debayan Dasgupta, Mark J. Wee, Monica Reyes, Yuwen Li, Peter Simm, Amita Sharma, Karl P. Schlingmann, Marco Janner, Andrew Biggin, Joanna Lazier, Michaela Geßner, Dionisios Chrysis, Shamir Tuchman, H. Jorge Baluarte, Michael A. Levine, Dov Tiosano, Karl Insogna, David A. Hanley, Thomas O. Carpenter, Shoji Ichikawa, Bernd Höppe, Martin Konrad, Lars Sävendahl, Craig Munns, Hang Lee, Harald Jüppner, Clemens Bergwitz

    Опубліковано 2014
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  17. 17
    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond за авторством Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer, Radhika Dhamija, Chelsea Chambers, Christine Coubes, Julien Thévenon, Paul Kuentz, Sophie Julia, Laurent Pasquier, Christèle Dubourg, Wilfrid Carré, Anna Rosati, Federico Melani, Tiziana Pisano, Maria Giardino, A. Micheil Innes, Yves Alembik, Sophie Scheidecker, Manuela M. Santos, Sónia Figueiroa, Cristina Garrido, Carlo Fusco, Daniele Frattini, Carlotta Spagnoli, Anna Binda, Tiziana Granata, Francesca Ragona, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Raffaella Milanesi, Maria Margherita Mancardi, Damien R Clark, Fernando Kok, Katherine L. Helbig, Shoji Ichikawa, Laurie S. Sadler, Jana Neupauerová, Petra Laššuthová, Katalin Štěrbová, Annick Laridon, Eva H. Brilstra, Bobby P.C. Koeleman, Johannes R. Lemke, Federico Zara, Pasquale Striano, Julie Soblet, Guillaume Smits, Nicolas Deconinck, Andrea Barbuti, Dario DiFrancesco, Eric LeGuern, Renzo Guerrini, Bina Santoro, Kay Hamacher, Gerhard Thiel, Anna Moroni, Jacopo C. DiFrancesco, Christel Depienne

    Опубліковано 2018
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  18. 18
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients за авторством Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Опубліковано 2018
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  19. 19
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications за авторством Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Опубліковано 2021
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