Search Results - "Antonette El-Husny"

DDX58 (RIG-I)-related disease is associated with tissue-specific interferon pathway activation by Prasov, Lev, Bohnsack, Brenda L, El Husny, Antonette S, Tsoi, Lam C, Guan, Bin, Kahlenberg, J Michelle, Almeida, Edmundo, Wang, Haitao, Cowen, Edward W, De Jesus, Adriana A, Jani, Priyam, Billi, Allison C, Moroi, Sayoko E, Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N, Kok, Fernando, Garnai, Sarah J, Mian, Shahzad I, Chen, Marcus Y, Warner, Blake M, Ferreira, Carlos R, Goldbach-Mansky, Raphaela, Hur, Sun, Brooks, Brian P, Richards, Julia E, Hufnagel, Robert B, Gudjonsson, Johann E

“…Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic…”
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Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015 by Schuler-Faccini, Lavinia, Ribeiro, Erlane M., Feitosa, Ian M.L., Horovitz, Dafne D.G., Cavalcanti, Denise P., Pessoa, André, Doriqui, Maria Juliana R., Neri, Joao Ivanildo, de Pina Neto, Joao Monteiro, Wanderley, Hector Y.C., Cernach, Mirlene, El-Husny, Antonette S., Pone, Marcos V.S., Serao, Cassio L.C., Sanseverino, Maria Teresa V.

“…In early 2015, an outbreak of Zika virus, a flavivirus transmitted by Aedes mosquitoes, was identified in northeast Brazil, an area where dengue virus was also…”
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Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation by Vidal, Amanda Ferreira, Ferraz, Rafaella Sousa, El-Husny, Antonette, Silva, Caio Santos, Vinasco-Sandoval, Tatiana, Magalhães, Leandro, Raiol-Moraes, Milene, Barra, Williams Fernandes, Pereira, Cynthia Lara Brito Lins, de Assumpção, Paulo Pimentel, de Brito, Leonardo Miranda, Vialle, Ricardo Assunção, Santos, Sidney, Ribeiro-Dos-Santos, Ândrea, Ribeiro-Dos-Santos, André M

“…Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in…”
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CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS) by El-Husny, Antonette, Raiol-Moraes, Milene, Amador, Marcos, Ribeiro-Dos-Santos, André M, Montagnini, André, Barbosa, Silvanira, Silva, Artur, Assumpção, Paulo, Ishak, Geraldo, Santos, Sidney, Pinto, Pablo, Cruz, Aline, Ribeiro-Dos-Santos, Ândrea

“…Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher…”
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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy by Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M, Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach

“…In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as…”
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Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics by Melo, Débora Gusmão, Silva, André Anjos da, Husny, Antonette Souto El, Ferraz, Victor Evangelista de Faria

“…ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the…”
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A novel nonsense mutation of the KAL1 gene (p.Trp204) in Kallmann syndrome by El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-Dos-Santos, Andrea

“…To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal…”
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Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy by Winckler, Pablo B., Silva, André M.S., Coimbra‐Neto, Antônio R., Carvalho, Elmano, Cavalcanti, Eduardo B.U., Sobreira, Cláudia F.R., Marrone, Carlo D., Machado‐Costa, Marcela C., Carvalho, Alzira A.S., Feio, Raimunda H.F., Rodrigues, Cleonísio L., Gonçalves, Marcus V.M., Tenório, Renata B., Mendonça, Rodrigo H., Cotta, Ana, Paim, Júlia F.O., Costa e Silva, Cynthia, Aquino Cruz, Camila, Bená, Marjory I., Betancur, Daniel F.A., El Husny, Antonette S., Souza, Isabel C.N., Duarte, Regina C.B., Reed, Umbertina C., Chaves, Márcia L.F., Zanoteli, Edmar, França, Marcondes C., Saute, Jonas A.

“…Limb‐girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to…”
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Clinicogenetic Lessons from 370 Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy (1133) by Winckler, Pablo Brea, da Silva, André M.S., Coimbra-Neto, Antônio R., Carvalho, Elmano, Chwal, Bruna Cristine, Cavalcanti, Eduardo B.U., Sobreira, Cláudia F.R., Marrone, Carlo D., Machado-Costa, Macela Marcela C., Carvalho, Alzira Alzira A.S., Feio, Raimunda H.F., Rodrigues, Cleonísio L., Gonçalves, Marcus V.M., Tenório, Renata B., Mendonça, Rodrigo H., Cotta, Ana, Paim, Júlia F.O., Costa e Silva, Cynthia, de Aquino Cruz, Camila, Bená, Marjory I., Betancur, Daniel F.A., El Husny, Antonette S., de Souza, Isabel C.N., Duarte, Regina C.B., Reed, Umbertina C., Chaves, Márcia L.F., Zanoteli, Edmar, França, Marcondes C., Saute, Jonas

“…Abstract only…”
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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network by de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Félix, Têmis Maria

“…The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases…”
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CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS) by Antonette El-Husny, Milene Raiol-Moraes, Marcos Amador, André M. Ribeiro-dos-Santos, André Montagnini, Silvanira Barbosa, Artur Silva, Paulo Assumpção, Geraldo Ishak, Sidney Santos, Pablo Pinto, Aline Cruz, Ândrea Ribeiro-dos-Santos

“…Abstract Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report…”
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Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015 by Schuler-Faccini, Lavinia, Ribeiro, Erlane M., Feitosa, Ian M.L., Horovitz, Dafne D.G., Cavalcanti, Denise P., Pessoa, André, Doriqui, Maria Juliana R., Neri, Joao Ivanildo, Neto, Joao Monteiro de Pina, Wanderley, Hector Y.C., Cernach, Mirlene, El-Husny, Antonette S., Pone, Marcos V.S., Serao, Cassio L.C., Sanseverino, Maria Teresa V.

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A novel nonsense mutation of the KALI gene (p.Trp204 ) in Kallmann syndrome by Husny, Antonette Souto El, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-dos-Santos, Andrea

“…Objective: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. Setting: Endocrinology Clinic of the Joao de Barros Barreto University…”
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Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica by Melo, Débora Gusmão, Silva, André Anjos da, Husny, Antonette Souto El, Ferraz, Victor Evangelista de Faria

“…ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the…”
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A novel nonsense mutation of the KAL1 gene (p.Trp204) in Kallmann syndrome by El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-Dos-Santos, Andrea

“…OBJECTIVETo describe a novel KAL1 mutation in patients affected by Kallmann syndrome. SETTINGEndocrinology Clinic of the João de Barros Barreto University…”
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Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015 by Schuler-Faccini, Lavinia, Ribeiro, Erlane M, Feitosa, Ian M L, Horovitz, Dafne D G, Cavalcanti, Denise P, Pessoa, André, Doriqui, Maria Juliana R, Neri, Joao Ivanildo, Neto, Joao Monteiro de Pina, Wanderley, Hector Y C, Cernach, Mirlene, El-Husny, Antonette S, Pone, Marcos V S, Serao, Cassio L C, Sanseverino, Maria Teresa V

“…An outbreak of Zika virus infection, a flavivirus transmitted by Aedes mosquitoes, was first recognized in northeastern Brazil in early 2015. In September, a…”
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