检索结果 - Paulo Márcio Yamaguti
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The impact of Craniofacial and Dental Osteogenesis Imperfecta manifestations on Oral Health-related Quality of Life of Children and Adolescents 由 Letícia Lopes Quirino Pantoja, Mariana Candida Vaz Carvalho, Paulo Márcio Yamaguti, Luiz Cláudio Castro, Lílian Marly de Paula, Ana Carolina Acevedo
出版 2023Pré-impressão -
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The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents 由 Letícia Lopes Quirino Pantoja, Mariana Candida Vaz Carvalho, Paulo Márcio Yamaguti, Luiz Cláudio Castro, Lílian Marly de Paula, Ana Carolina Acevedo
出版 2024Artigo -
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Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report 由 Paulo Márcio Yamaguti, Pollyanna Almeida Costa dos Santos, Bruno Sakamoto Leal, Viviane Brandão Bandeira de Mello Santana, Juliana F. Mazzeu, Ana Carolina Acevedo, Francisco de Assis Rocha Neves
出版 2015Artigo -
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Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous <i>CA2</i> deletion 由 Luan Deives Rodrigues Leite, Kêmelly Karolliny Moreira Resende, Lídia dos Santos Rosa, Juliana F. Mazzeu, Lívia Cláudio de Oliveira, Maria do Carmo Sorci Dias Scher, Ana Carolina Acevedo, Paulo Márcio Yamaguti
出版 2023Artigo -
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Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta 由 Muriel De La Dure‐Molla, Kêmelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Márcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Juliana F. Mazzeu, Valérie Cormier‐Daire, Céline Gaucher, Ana Carolina Acevedo
出版 2023Pré-impressão -
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Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta 由 Kêmelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Márcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana F. Mazzeu, Valérie Cormier‐Daire, Céline Gaucher, Ana Carolina Acevedo, Muriel De La Dure‐Molla
出版 2023Artigo -
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Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations 由 Ana Carolina Acevedo, James A. Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Cláudio Castro, Paulo Márcio Yamaguti, Lílian Marly de Paula, David Parry, Clare V. Logan, Claire E. L. Smith, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell
出版 2015Artigo -
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Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis 由 Cláudio Rodrigues Rezende Costa, Rym Chalgoumi, Amina Baker, C. Le Guillou, Paulo Márcio Yamaguti, Víctor Hugo Simancas Escorcia, Lilia Abbad, Bruna Amorin, Caroline Lourenço de Lima, Vidjea Cannaya, Mourad Benassarou, Ariane Berdal, Christos Chatziantoniou, Olivier Cases, Pascal Cosette, Renata Kozyraki, Ana Carolina Acevedo
出版 2024Artigo -
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Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation 由 Claire Bardet, Frédéric Courson, Yongquan Wu, Mayssam Khaddam, Benjamin Salmon, Sandy Ribes, Julia Thumfart, Paulo Márcio Yamaguti, Gaël Y. Rochefort, Marie-Lucile Figueres, Tilman Breiderhoff, Alejandro García‐Castaño, Benoît Vallée, Dominique Le Denmat, Brigitte Baroukh, Thomas Guilbert, Alain Schmitt, Jean-Marc Massé, Dominique Bazin, Georg Lorenz, Maria Morawietz, Jianghui Hou, Patricia Carvalho‐Lobato, María Cristina Manzanares‐Céspedes, Jean‐Christophe Fricain, Déborah Talmud, R Demontis, Francisco de Assis Rocha Neves, Delphine Zénaty, Ariane Berdal, Andreas Kiesow, Matthias Petzold, Suzanne Ménashi, Agnès Linglart, Ana Carolina Acevedo, Rosa Vargas‐Poussou, Dominik Müller, Pascal Houillier, Catherine Chaussain
出版 2015Artigo -
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations 由 Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta
出版 2013Artigo
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Medicine
Dentistry
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Amelogenesis imperfecta
Enamel paint
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Nephrocalcinosis
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Amelogenin
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Craniofacial
Dentinogenesis imperfecta
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Osteogenesis imperfecta
Quality of life (healthcare)