Search Results - "Marcial Francis Galera"

Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019 by Costa, Roseli Divino, Ferreira, Maria de Fátima de Carvalho, Rocha, Thaís de Almeida, Galera, Marcial Francis

“…ABSTRACT Objective: To evaluate quality indicators of the Neonatal Screening Referral Service of the state of Mato Grosso (NSRS-MT) from 2005 to 2019. Methods:…”
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IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO by Costa, Roseli Divino, Galera, Bianca Borsatto, Rezende, Bianca Costa, Venâncio, Amanda Cristina, Galera, Marcial Francis

“…To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil…”
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Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 by Riegel, Mariluce, Galera, Marcial Francis, Venâncio, Amanda Cristina, Corrêa, Thiago

“…Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic…”
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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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Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism by Mendes, Judite R. T., Strufaldi, Maria Wany L., Delcelo, Rosana, Moisés, Regina C. M. S., Gilberto Vieira, José, Kasamatsu, Teresa S., Francis Galera, Marcial, Andrade, Joyce A. D., Verreschi, Ieda T. N.

“…OBJECTIVE The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y‐chromosome. About 60% of patients with…”
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Perthes-Like Disease Masquerading Non-Classical MPS by Souza, Carolina F.M., Siqueira, Ana Cecília, Antunes, Natália S., Horovitz, Dafne D.G., Politei, Juan, Lourenço, Charles M., Doriqui, Maria Juliana Rodovalho, Souza, Débora Lima, Galera, Marcial Francis, Abrahão, Leonardo Cury, Matos, Marcos Almeida, Mendes, Pedro Henrique Barros, Magalhães, Tatiana S.P.C

“…Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse…”
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Prevalence of Hyposalivation in Patients with Systemic Lupus Erythematosus in a Brazilian Subpopulation by Dias, Eliane Pedra, Fernandes, Vander, de Lima, Paulo Ricardo Teles, Espinosa, Mariano Martinez, Galera, Marcial Francis, Leite, Cristhiane Almeida, Borges, Alvaro Henrique

“…Background. Systemic lupus erythematosus (SLE) is a chronic inflammatory, multisystem, and autoimmune disease. Objective. The aim of this study was to describe…”
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Qualificação e provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS) by Débora Gusmão Melo, Ramos Germano, Carla Maria, Carlos Guilherme Gaelzer Porciúncula, Isaias Soares de Paiva, João Ivanildo da Costa Ferreira Neri, Lucimar Retto da Silva de Avó, Marcelo Marcos Piva Demarzo, Galera, Marcial Francis

“…Este ensaio teórico reflete sobre a qualificação e o provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no…”
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Prevalência de escoliose idiopática e variáveis associadas em escolares do ensino fundamental de escolas municipais de Cuiabá, MT, 2002 by Espírito Santo, Alcebíades do, Guimarães, Lenir Vaz, Galera, Marcial Francis

“…OBJETIVO: Estimar a prevalência de escoliose idiopática e variáveis associadas em escolares do ensino público fundamental. MÉTODOS: Estudo de corte transversal…”
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GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA – UNVEILING NEW FEATURES? by Medeiros, Leonardo Simão, De Souza, Carolina Fischinger Moura, Artigalás, Osvaldo, Galera, Marcial Francis, Costa, Roseli Divino, do Valle Oliveira, Dayse, García-Ortiz, José Elías, Guerrero, Jesús Real, Oliveira, João Bosco, Schwartz, Ida Vanessa Doederlein

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Rare diseases diagnosed through neonatal screening: Data from the Brazilian rare diseases network by Milke, Júlia Cordeiro, de Oliveira, Bibiana Mello, Schmidt, Amanda Maria, dos Santos, Mariana Lopes, Holtz, Annanda Pink, Fighera, Gabriella Zanin, Ponce, Betania, Fermo, Sofia Simoni Rossi, Broch, Monique Sartori, Artifon, Milena, Viegas, Isadora, Lorea, Cláudia Fernandes, Giusti, Marcia, Galera, Marcial Francis, Amorim, Tatiana, de Faria Ferraz, Victor Evangelista, Alves, Domingos, Schwartz, Ida Vanessa Doederlein, Félix, Têmis Maria

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PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL by Tresbach, Rafael Hencke, Ludwig, Fernanda Sperb, Vieira, Marta Wey, Costa, Roseli Divino, Freitas, Pedro Eduardo Bonfim, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, Galera, Marcial Francis, Cunha, Keyla Christy Christine Mendes Sampaio, de Souza, Cézar Antônio Abreu, Januário, José Nélio, Aguiar, Marcos José Burle, Schwartz, Ida Vanessa Doederlein

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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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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) by Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos

“…The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality…”
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Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome by Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, Giugliani, Roberto

“…Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal…”
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Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome by Riegel, Mariluce, Moreira, Lília Maria Azevedo, Galera, Marcial Francis, Leite, Júlio César Loguercio, Mergener, Rafaella, Corrêa, Thiago, Vargas, José Eduardo

“…Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In…”
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The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients by Godoy, Gleice Cristina dos Santos, Galera, Bianca Borsatto, Araujo, Claudinéia, Barbosa, Jacklyne Silva, De Pinho, Max Fernando, Galera, Marcial Francis, de Medeiros, Sebastião Freitas

“…Objective To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia…”
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Gene interaction network analysis within the 4P16.3 critical region by Corrêa, Thiago, Mergener, Rafaella, Leite, Júlio César, Galera, Marcial Francis, Moreira, Lilia Maria de Azevedo, Riegel, Mariluce

“…Deletions in the 4p16.3 region cause Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. This study aimed to…”
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Glutathione S-transferase M1 and T1 gene polymorphisms in Brazilian women with endometriosis by Kubiszeski, Eloísa Helena, de Medeiros, Sebastião Freitas, da Silva Seidel, Joziane Agnória, Barbosa, Jacklyne Silva, Galera, Marcial Francis, Galera, Bianca Borsatto

“…Purpose The glutathione family (GST) genes appear to play a role in the genesis of endometriosis. This case–control study aimed to compare the frequencies of…”
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Clinical Characterization of Mucolipidoses II and III: A Multicenter Study by Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Ribeiro, Erlane M., Lourenço, Charles M., Kim, Chong Ae, Valadares, Eugênia R., Galera, Marcial Francis, Acosta, Angelina X., Horovitz, Dafne Dain Gandelman, Schwartz, Ida Vanessa Doederlein

“…Abstract Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are…”
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