Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
Tomatsu, Shunji, Montaño, Adriana M., Nishioka, Tatsuo, Gutierrez, Monica A., Peña, Olga M., Tranda firescu, Georgeta G., Lopez, Patricia, Yamaguchi, Seiji, Noguchi, Akihiko, Orii, Tadao
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
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Journal Article
Contribution of the H63D Mutation in HFE to Murine Hereditary Hemochromatosis
Tomatsu, Shunji, Orii, Koji O., Fleming, Robert E., Holden, Christopher C., Waheed, Abdul, Britton, Robert S., Gutierrez, Monica A., Velez-Castrillon, Susana, Bacon, Bruce R., Sly, William S.
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2003)
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Journal Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
Tomatsu, Shunji, Dieter, Tatiana, Schwartz, Ida V, Sarmient, Piedad, Giugliani, Roberto, Barrera, Luis A, Guelbert, Norberto, Kremer, Raquel, Repetto, Gabriela M, Gutierrez, Monica A, Nishioka, Tatsuo, Serrato, Olga Peña, Montaño, Adriana Maria, Yamaguchi, Seiji, Noguchi, Akihiko
Published in Journal of human genetics (01.01.2004)
Published in Journal of human genetics (01.01.2004)
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Journal Article
Enzyme replacement therapy in a murine model of Morquio A syndrome
Tomatsu, Shunji, Montaño, Adriana M., Ohashi, Amiko, Gutierrez, Monica A., Oikawa, Hirotaka, Oguma, Toshihiro, Dung, Vu Chi, Nishioka, Tatsuo, Orii, Tadao, Sly, William S.
Published in Human molecular genetics (15.03.2008)
Published in Human molecular genetics (15.03.2008)
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Journal Article
Missense Models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of Murine Mucopolysaccharidosis Type VII Produced by Targeted Mutagenesis
Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Grubb, Jeffrey H., Snella, Elizabeth M., Gutierrez, Monica A., Dieter, Tatiana, Sukegawa, Kazuko, Orii, Tadao, Kondo, Naomi, Sly, William S.
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
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Journal Article
Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
Nishioka, Tatsuo, Tomatsu, Shunji, Gutierrez, Monica A., Miyamoto, Ken-ichi, Trandafirescu, Georgeta G., Lopez, Patricia L.C., Grubb, Jeffrey H., Kanai, Rie, Kobayashi, Hironori, Yamaguchi, Seiji, Gottesman, Gary S., Cahill, Richard, Noguchi, Akihiko, Sly, William S.
Published in Molecular genetics and metabolism (01.07.2006)
Published in Molecular genetics and metabolism (01.07.2006)
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Journal Article
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease
Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Nakayama, Jun, Levy, Beth, Grubb, Jeffrey H., Gutierrez, Monica A., Shim, Soomin, Yamaguchi, Seiji, Nishioka, Tatsuo, Montaño, Adriana Maria, Noguchi, Akihiko, Orii, Tadao, Kondo, Naomi, Sly, William S.
Published in Human molecular genetics (15.12.2003)
Published in Human molecular genetics (15.12.2003)
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Journal Article
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
TOMATSU, Shunji, OKAMURA, Kazuo, THORNLEY, Margaret, WRAITH, E. D, BARRERA, Luis A, GIUGLIANI, Roberto, SCHWARTZ, Ida V, FRENKING, Gudrun Schulze, BECK, Michael, KIRCHER, Susanne G, PASCHKE, Eduard, YAMAGUCHI, Seiji, TAKETANI, Takeshi, ULLRICH, Kurt, ISOGAI, Koji, SUZUKI, Yasuyuki, ORII, Tadao, KONDO, Naomi, CREER, Michael, NOGUCHI, Akihiko, ORII, Koji O, NISHIOKA, Tatsuo, GUTIERREZ, Monica A, VELEZ-CASTRILLON, Susana, FACHEL, Angela A, GRUBB, Jeffrey H, COOPER, Alan
Published in Pediatric research (01.04.2004)
Published in Pediatric research (01.04.2004)
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Journal Article
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients
Tomatsu, Shunji, Filocamo, Mirella, Orii, Koji O., Sly, William S., Gutierrez, Monica A., Nishioka, Tatsuo, Serrato, Olga Peña, Natale, Paola Di, Montaño, Adriana Maria, Yamaguchi, Seiji, Kondo, Naomi, Orii, Tadao, Noguchi, Akihiko
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
Tomatsu, Shunji, Montaño, Adriana M., Lopez, Patricia, Trandafirescu, Georgeta, Gutierrez, Monica A., Oikawa, Hirotaka, Nishioka, Tatsuo, Vieira, Matheus B., Orii, Tadao, Noguchi, Akihiko
Published in Molecular genetics and metabolism (01.09.2006)
Published in Molecular genetics and metabolism (01.09.2006)
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Journal Article
Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice
Montaño, Adriana M., Oikawa, Hirotaka, Tomatsu, Shunji, Nishioka, Tatsuo, Vogler, Carole, Gutierrez, Monica A., Oguma, Toshihiro, Tan, Yun, Grubb, Jeffrey H., Dung, Vu Chi, Ohashi, Amiko, Miyamoto, Ken-ichi, Orii, Tadao, Yoneda, Yukio, Sly, William S.
Published in Molecular genetics and metabolism (01.06.2008)
Published in Molecular genetics and metabolism (01.06.2008)
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Journal Article
Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease
Gutiérrez, Mónica A, García-Vallejo, Felipe, Tomatsu, Shunji, Cerón, Flavio, Alméciga-Díaz, Carlos J, Domínguez, Martha C, Barrera, Luis A
Published in Biomédica (01.09.2008)
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Published in Biomédica (01.09.2008)
Journal Article
Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations
TOMATSU, Shunji, SUKEGAWA, Kazuko, COOPER, Alan, DI NATALE, Paola, GAL, Andreas, NOGUCHI, Akihiko, SLY, William S, TRANDAFIRESCU, Georgeta G, GUTIERREZ, Monica A, NISHIOKA, Tatsuo, YAMAGUCHI, Seiji, ORII, Tadao, FROISSART, Roseline, MAIRE, Irene, CHABAS, Amparo
Published in European journal of human genetics : EJHG (01.07.2006)
Published in European journal of human genetics : EJHG (01.07.2006)
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Journal Article
General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus
Tomatsu, Shunji, Orii, Koji O., Bi, Y., Gutierrez, Monica A., Nishioka, Tatsuo, Yamaguchi, Seiji, Kondo, Naomi, Orii, Tadao, Noguchi, Akihiko, Sly, William S.
Published in Human mutation (01.06.2004)
Published in Human mutation (01.06.2004)
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Journal Article
Coded wire tagging of juvenile curimbatá, Prochilodus lineatus (Valenciennes, 1837) (Characiformes): mortality, tag retention, and growth
Barroca, Tatiana M., Gutiérrez-Espinosa, Mónica A., Giraldo, Alejandro, Bedore, Alessandra G., Godinho, Alexandre L.
Published in Neotropical Ichthyology (01.06.2015)
Published in Neotropical Ichthyology (01.06.2015)
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Journal Article
Perceptions of Social Discrimination and Residential Segregation between North African Immigrants in Sicily and Black Citizens in Mississippi
Eterno, Loretta, Licciardello, Orazio, Cosby, Arthur G., Gutierrez, Monica A. Rosas
Published in Procedia, social and behavioral sciences (22.04.2014)
Published in Procedia, social and behavioral sciences (22.04.2014)
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Journal Article
Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A
Barrera, Luis Alejandro, Gutiérrez, Mónica A., García Vallejo, Felipe, Tomatsu, Shunji, Cerón, Flavio, Alméciga Díaz, Carlos J., Domínguez, Martha C.
Published in Biomédica (01.09.2008)
Published in Biomédica (01.09.2008)
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Journal Article
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients: MUTATIONS IN BRIEF
Tomatsu, Shunji, Filocamo, Mirella, Orii, Koji O., Sly, William S., Gutierrez, Monica A., Nishioka, Tatsuo, Serrato, Olga Peña, Natale, Paola Di, Montaño, Adriana Maria, Yamaguchi, Seiji, Kondo, Naomi, Orii, Tadao, Noguchi, Akihiko
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Enhancing the effect of therapeutic proteins on the central nervous system
Tomatsu, Shunji, Montano, Adriana, Nishioka, Tatsuo, Grubb, Jeffrey H, Sly, William S, Gutierrez, Monica A
Year of Publication 24.07.2012
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Year of Publication 24.07.2012
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