Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Dafne Horovitz"'
Autor:
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás, Louise Lapagesse Pinto, Ana Cecília Azevedo, Angelina Acosta, Carmen Bonfim, Charles Marques Lourenço, Kim Chong Ae, Dafne Horovitz, Denize Bonfim, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Valadares, Fábio Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Correa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Llerena Jr., Laura Jardim, Liane Giuliani, Luiz Carlos Santana da Silva, Mara L. Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Fagondes, Ana Maria Martins
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 589-604 (2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tiss
Externí odkaz:
https://doaj.org/article/605a4018d82c450a9dcc43fa4125a727
Autor:
Dafne Horovitz, Juan C. Llerena, Maria E.S. Gomes, Maria Teresa Vieira Sanseverino, Gabriela Ferraz Leal, Ernesto Raul Caffarena, Deborah Antunes, Têmis Maria Félix, Denise P. Cavalcanti, Valeria R. Moura, Sayonara Gonzalez, Luiza Calatrava Paternostro
Publikováno v:
Molecular Syndromology. 10:255-263
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the RMRP gene and characterized by metaphyseal bone dysplasia associated with hypotrichosis, immunodeficiency, and predisposition to malignan
Autor:
Filippo Vairo, Amauri Dalla Corte, Guilherme Baldo, Fabiano de Oliveira Poswar, Mariluce Riegel, Roberto Giugliani, Dafne Horovitz, Cláudia Vanzella
Publikováno v:
Expert Opinion on Orphan Drugs. 6:403-411
Introduction: The mucopolysaccharidoses (MPS) are lysosomal storage diseases (LSDs) caused by the deficiency of an enzyme involved in the breakdown of glycosaminoglycans (GAGs), which leads to GAG ...
Autor:
Maria E, Gomes, Luiza, Calatrava Paternostro, Valéria R, Moura, Deborah, Antunes, Ernesto R, Caffarena, Dafne, Horovitz, Maria T, Sanseverino, Gabriela, Ferraz Leal, Têmis M, Felix, Denise, Pontes Cavalcanti, Juan, Clinton Llerena, Sayonara, Gonzalez
Publikováno v:
Mol Syndromol
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the RMRP gene and characterized by metaphyseal bone dysplasia associated with hypotrichosis, immunodeficiency, and predisposition to malignan
Autor:
Anneliese Lopes Barth, Rejane Gus Kessler, Dafne Horovitz, Francyne Kubaski, Robert W. Mason, Shunji Tomatsu, Fernanda da Silva Medeiros, Danilo Pereira, Maira Graeff Burin, Inamara S. Moraes, Andryele Zaffari Machado, Kristiane Michelin-Tirelli, Fernanda Bender, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism. 129:S93
Autor:
Patrícia Brasil, José P. Pereira, M. Elisabeth Moreira, Rita M. Ribeiro Nogueira, Luana Damasceno, Mayumi Wakimoto, Renata S. Rabello, Stephanie G. Valderramos, Umme-Aiman Halai, Tania S. Salles, Andrea A. Zin, Dafne Horovitz, Pedro Daltro, Marcia Boechat, Claudia Raja Gabaglia, Patrícia Carvalho de Sequeira, José H. Pilotto, Raquel Medialdea-Carrera, Denise Cotrim da Cunha, Liege M. Abreu de Carvalho, Marcos Pone, André Machado Siqueira, Guilherme A. Calvet, Ana E. Rodrigues Baião, Elizabeth S. Neves, Paulo R. Nassar de Carvalho, Renata H. Hasue, Peter B. Marschik, Christa Einspieler, Carla Janzen, James D. Cherry, Ana M. Bispo de Filippis, Karin Nielsen-Saines
Publikováno v:
The New England journal of medicine. 375(24)
Zika virus (ZIKV) has been linked to central nervous system malformations in fetuses. To characterize the spectrum of ZIKV disease in pregnant women and infants, we followed patients in Rio de Janeiro to describe clinical manifestations in mothers an
Autor:
Gisele Rosone De Lucca, Chong Ae Kim, José Simeonato, Paulo Cesar Aranda, Helena Pimentel, José Maria Cabral, Ana Maria Martins, Denize Bomfim Souza, Flavio F Alcântara, Liane de Rosso Giuliani, Dafne Horovitz, Patricia Martins Moura Barrios, Rachel Sayuri Honjo, Angelina Xavier Acosta, Emerson de Santana Santos, Louise Lapagesse Carmargo Pinto, Denise Y. J. Norato, José Carlos Soares de Fraga, Juan C. Llerena, Mara Lisiane de Moraes dos Santos, Maria Verónica Muñoz Rojas, Roberto Giugliani, Carolina Fishinger Moura de Souza, Maria Ângela Moreira, Diane Ruschel Marinho, Simone Fagondes, Isabel Cristina Neves de Souza, Fábio Guarany, Marcelo Kerstenetzky, Charles Marques Lourenço, Sylvio Gilberto A Avilla, Nicole Ruas, Carmem Bomfim, Ana Cecília Azevedo, Márcia Gonçalves Ribeiro, Andressa Federhen, Erlane Marques Ribeiro, Taiane Alves Vieira, José Eduardo Góes, Jordão Correa Neto, Ronaldo Costa, Osvaldo Alfonso Pinto Artigalas, Durval Batista Palhares, Luiz Carlos Santana da Silva, Eugênia Ribeiro Valadares, Laura Bannach Jardim, Raquel Boy
Publikováno v:
Revista da Associação Médica Brasileira v.56 n.3 2010
Revista da Associação Médica Brasileira
Associação Médica Brasileira (AMB)
instacron:AMB
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da UFPA
Universidade Federal do Pará (UFPA)
instacron:UFPA
Repositório Institucional da UFMS
Universidade Federal de Mato Grosso do Sul (UFMS)
instacron:UFMS
Revista da Associação Médica Brasileira
Associação Médica Brasileira (AMB)
instacron:AMB
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da UFPA
Universidade Federal do Pará (UFPA)
instacron:UFPA
Repositório Institucional da UFMS
Universidade Federal de Mato Grosso do Sul (UFMS)
instacron:UFMS
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetado
Autor:
Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, Taiane Alves Vieira, Osvaldo Artigalás, Louise Lapagesse Carmargo Pinto, Ana Cecília Azevedo, Angelina Xavier Acosta, Carmem Bomfim, Charles Marques Lourenço, Chong Ae Kim, Dafne Horovitz, Denize Bomfim Souza, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Ribeiro Valadares, Fábio Guarany, Gisele Rosone De Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Corrêa Neto, José Carlos Fraga, José Eduardo Góes, José Maria Cabral, José Simeonato, Juan Clinton Llerena Jr, Laura Bannach Jardim, Liane de Rosso Giuliani, Luiz Carlos Santana da Silva, Mara Santos, Maria Ângela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Fishinger Moura de Souza, Flavio F Alcântara, Sylvio Gilberto A Avilla, Simone Fagondes, Ana Maria Martins
Publikováno v:
Revista da Associação Médica Brasileira, Vol 56, Iss 3, Pp 271-277 (2010)
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetado
Autor:
Arnold Munnich, Fabien Guimiot, H. Plauchu, Maria-Luisa Giovannucci-Uzielli, Patrick Edery, Anee-Lise Delezoide, Luitgard Graul-Neumann, Massimiliano Rossi, Carl-Joachim Partsch, Valérie Malan, Judith Melki, Pierre Chatelain, Thomas Edouard, Kate Gibson, Robin D. Clark, Martin Zenker, Helen Stewart, Johana-Maria van Hagen, Liselot P. van Hest, Gabriele Gillessen-Kaesbach, Clarisse Baumann, Martine Le Merrer, Helen Cox, Anna Rajab, Carol Chu, Elisabeth Steichen-Gersdorf, Valérie Cormier-Daire, Céline Huber, Dominique Bonneau, Daniela Bezerra Da Silva, Virginia Fano, Sheila Unger, Dafne Horovitz, David Sillence
Publikováno v:
European Journal of Human Genetics, 17(3), 395-400. Nature Publishing Group
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterio
Autor:
Fernando Kok, Eugênia Ribeiro Valadares, Ruy Pires de Oliveira Sobrinho, María Isabel Quiroga de Michelena, Márcia Gonçalves Ribeiro, Chong Ae Kim, Denise Y. J. Norato, Cyro D Martinhago, Raquel Boy, Sandra Leistner-Segal, Dafne Horovitz, Andréa de Rezende Duarte, Maria Betânia Pereira Toralles, João Gustavo Cerqueira Mota, Paulina Mabe, Emerson de Santana Santos, Maira Burin, Roberto Giugliani, Patrícia Santana Correia, João Monteiro de Pina-Neto, Isabella Lopes Monlleó, Agnes Cristina Fett-Conte, Ida Vanessa Doederlein Schwartz, Anna Carolina Paula
Publikováno v:
Acta Paediatrica. 96:63-70
Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details of the patients and their disease manifestations were obtained from a review of medical re