Browsing Artigos e Materiais de Revistas Científicas - FM/MPE by Title

Browsing Artigos e Materiais de Revistas Científicas - FM/MPE by Title

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  • ARAUJO, Thais Fenz; RIBEIRO, Erlane Marques; ARRUDA, Anderson Pontes; MORENO, Carolina Araujo; MEDEIROS, Paula Frassinetti Vasconcelos de; MINILLO, Renata Moldenhauer; MELO, Debora Gusmao; KIM, Chong Ae; DORIQUI, Maria Juliana Rodovalho; FELIX, Temis Maria; FOCK, Rodrigo Ambrosio; CAVALCANTI, Denise Pontes (BIOMED CENTRAL LTD, LONDON, ENGLAND, 2016)
    Background: Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families ...
  • LIPHAUS, Bernadete L.; UMETSU, Natalia; JESUS, Adriana A.; BANDO, Silvia Y.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, Magda (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2015)
    OBJECTIVE: To perform a molecular characterization of the C1q, C2 and C4 genes in patients with juvenile systemic lupus erythematosus. METHODS: Patient 1 (P1) had undetectable C1q, patient 2 (P2) and patient 3 (P3) had ...
  • LIMA, Hildener Nogueira; BOTOSSO, Viviane Fongaro; OLIVEIRA, Danielle Bruna Leal; CAMPOS, Angelica Cristine de Almeida; LEAL, Andrea Lima; SILVA, Tereza Souza; BOSSO, Patricia Alves Ramos; MORAES, Claudia Trigo Pedroso; SILVA FILHO, Claudionor Gomes da; VIEIRA, Sandra Elisabete; GILIO, Alfredo Elias; STEWIEN, Klaus Eberhard; DURIGON, Edison Luiz (ELSEVIER SCIENCE BV, AMSTERDAM, NETHERLANDS, 2012)
    Human respiratory syncytial virus (HRSV) strains were isolated from nasopharyngeal aspirates collected from 965 children between 2004 and 2005, yielding 424 positive samples. We sequenced the small hydrophobic protein (SH) ...
  • TUMA, Patricia L.; MAIA, Josiane C. S.; DELGADO, Artur F.; CARVALHO, Werther B. (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2014)
  • GASPARINI, Yanca; MONTENEGRO, Marilia M.; NOVO-FILHO, Gil M.; CERONI, Jose R. M.; HONJO, Rachel S.; ZANARDO, Evelin A.; DIAS, Alexandre T.; NASCIMENTO, Amom M.; COSTA, Thais V. M. M.; MADIA, Fabricia A.; CHEHIMI, Samar N.; DAMASCENO, Jullian G.; KIM, Chong A.; KULIKOWSKI, Leslie D. (KARGER, BASEL, SWITZERLAND, 2019)
    Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital ...
  • NOBRE, Erica Bezerra; GRISI, Sandra Josefina Ferraz Ellero; FERRARO, Alexandre Archanjo (ASSOCIACAO PAULISTA MEDICINA, SAO PAULO, BRAZIL, 2016)
    CONTEXT AND OBJECTIVE: Lifestyle includes the personal attitudes or behavioral patterns that result in risks or benefits to the individual's own health or that of others. Children's health is particularly determined by ...
  • PAZ, Jose Albino da; KIM, Chong Ae; GOOSSENS, Michael; GIURGEA, Irina; MARQUES-DIAS, Maria Joaquina (ASSOC ARQUIVOS NEURO- PSIQUIATRIA, SAO PAULO SP, BRAZIL, 2015)
    Objective: To present a seven-cases serie of Mowat-Wilson syndrome (MWS). Method: All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. ...
  • FRANCO, J. F. S.; DIB, R. E. El; AGARWAL, A.; SOARES, D.; MILHAN, N. V. M.; ALBANO, L. M. J.; KIM, C. A. (INTERNATIONAL ADVANCEMENT CENTER FOR MEDICINE AND HEALTH RESEARCH, Brasil, 2017)
    Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...
  • BORLOT, Felippe; ARANTES, Paula Ricci; QUAIO, Caio Robledo; FRANCO, Jose Francisco da Silva; LOURENCO, Charles Marques; GOMY, Israel; BERTOLA, Debora Romeo; KIM, Chong Ae (WILEY-BLACKWELL, HOBOKEN, USA, 2014)
    Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores ...
  • ZANKL, Andreas; DUNCAN, Emma L.; LEO, Paul J.; CLARK, Graeme R.; GLAZOV, Evgeny A.; ADDOR, Marie-Claude; HERLIN, Troels; KIM, Chong Ae; LEHEUP, Bruno P.; MCGILL, Jim; MCTAGGART, Steven; MITTAS, Stephen; MITCHELL, Anna L.; MORTIER, Geert R.; ROBERTSON, Stephen P.; SCHROEDER, Marie; TERHAL, Paulien; BROWN, Matthew A. (CELL PRESS, CAMBRIDGE, USA, 2014)
  • KELMANN, Samantha Vernaschi; QUAIO, Caio Robledo D'Angioli Costa; HONJO, Rachel Sayuri; BERTOLA, Debora Romeo; ROSA NETO, Nilton Salles; LOURENCO, Charles Marques; D'ALMEIDA, Vania; LELLIS, Rute Facchini; RIVITTI-MACHADO, Maria Cecilia; ENOKIHARA, Milvia Maria Simoes e Silva; MICHALANY, Nilceo S.; KIM, Chong Ae (WILEY-BLACKWELL, HOBOKEN, USA, 2015)
  • SALVUCCI, Isadora Darriba Macedo; FINZI, Simone; OYAMADA, Maria Kiyoko; KIM, Chong Ae; PIMENTEL, Sergio Luis Gianotti (TAYLOR & FRANCIS INC, PHILADELPHIA, USA, 2018)
    Introduction: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. Case presentation: Our patient was ...
  • BERTOLA, D. R.; PEREIRA, A. C.; BRASIL, A. S.; SUZUKI, L.; LEITE, C.; FALZONI, R.; TANNURI, U.; POPLAWSKI, A. B.; JANOWSKI, K. M.; KIM, C. A.; MESSIAEN, L. M. (WILEY-BLACKWELL, MALDEN, USA, 2012)
  • KUHNE, A. C. A.; PITTA, A. C.; GALASSI, S. C.; GONCALVES, A. M. F.; CARDOSO, A. C. A.; PAZ, J. A.; CAMPOS, L. M. A.; SILVA, C. A. (SAGE PUBLICATIONS LTD, LONDON, ENGLAND, 2019)
    Childhood-onset systemic lupus erythematosus (cSLE) is a chronic inflammatory multisystem autoimmune disease that requires multiple differential diagnoses. Munchausen by proxy syndrome (MBPS) is a form of child abuse, where ...
  • NEDER, Luciana; RONDON, Daniel A.; CURY, Silvana S.; SILVA, Clovis A. da (SOC BRASIL PEDIATRIA, RIO DE JANEIRO, RJ, BRAZIL, 2014)
    Objective: To evaluate musculoskeletal involvement and autoantibodies in pediatric leprosy patients. Methods: 50 leprosy patients and 47 healthy children and adolescents were assessed according to musculoskeletal manifestations ...
  • QUEIROZ, Ligia Bruni; LOURENCO, Benito; SILVA, Luiz Eduardo Vargas; LOURENCO, Daniela Mencaroni Rodrigues; SILVA, Clovis Artur (SOC BRASIL PEDIATRIA, RIO DE JANEIRO, RJ, BRAZIL, 2018)
    Objective: To evaluate television and simultaneous electronic devices use in adolescents with musculoskeletal pain and musculoskeletal pain syndromes. Methods: A cross-sectional study was performed in 299 healthy adolescents ...
  • WADE, Emma M.; DANIEL, Philip B.; JENKINS, Zandra A.; MCINERNEY-LEO, Aideen; LEO, Paul; MORGAN, Tim; ADDOR, Marie Claude; ADES, Lesley C.; BERTOLA, Debora; BOHRING, Axel; CARTER, Erin; CHO, Tae-Joon; DUBA, Hans-Christoph; FLETCHER, Elaine; KIM, Chong A.; KRAKOW, Deborah; MORAVA, Eva; NEUHANN, Teresa; SUPERTI-FURGA, Andrea; VEENSTRA-KNOL, Irma; WIECZOREK, Dagmar; WILSON, Louise C.; HENNEKAM, Raoul C. M.; SUTHERLAND-SMITH, Andrew J.; STROM, Tim M.; WILKIE, Andrew O. M.; BROWN, Matthew A.; DUNCAN, Emma L.; MARKIE, David M.; ROBERTSON, Stephen P. (CELL PRESS, CAMBRIDGE, USA, 2016)
    Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations ...
  • YAMAMOTO, Guilherme L.; BARATELA, Wagner A. R.; ALMEIDA, Tatiana F.; LAZAR, Monize; AFONSO, Clara L.; OYAMADA, Maria K.; SUZUKI, Lisa; OLIVEIRA, Luiz A. N.; RAMOS, Ester S.; KIM, Chong A.; PASSOS-BUENO, Maria Rita; BERTOLA, Debora R. (CELL PRESS, CAMBRIDGE, USA, 2014)
    Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and ...
  • CAMARGO, Paulo Roberto; OKAY, Thelma Suely; YAMAMOTO, Lidia; NEGRO, Gilda Maria Barbaro Del; LOPES, Antonio Augusto (ELSEVIER IRELAND LTD, CLARE, IRELAND, 2011)
    Background: There is scarce information on the potential benefits of immunosuppression in children with myocarditis and viral genomes in myocardium. We investigated the occurrence of myocarditis in children with a preliminary ...
  • GUIMARAES, Luciana Pache de Faria; SEGURO, Antonio Carlos; SHIMIZU, Maria Heloisa Mazzola; NERI, Leticia Aparecida Lopes; SUMITA, Nairo Massakasu; BRAGANCA, Ana Carolina de; VOLPINI, Rildo Aparecido; SANCHES, Talita Rojas Cunha; FONSECA, Fernanda Andrade Macaferri da; MOREIRA FILHO, Carlos Alberto; VAISBICH, Maria Helena (SPRINGER, NEW YORK, USA, 2014)
    Nephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation ...

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