Search Results - "Felix, Temis Maria"

A new case of osteogenesis imperfecta type VIII and retinal detachment by Souza, Liliane Todeschini, Nunes, Ricardo Rodrigues, Magalhães, Otavio, Félix, Têmis

“…Osteogenesis imperfecta (OI) type VIII (OMIM: 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone…”
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Genomic imbalances in syndromic congenital heart disease by Molck, Miriam Coelho, Simioni, Milena, Paiva Vieira, Társis, Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Souza, Josiane, Fett-Conte, Agnes Cristina, Félix, Têmis Maria, Lopes Monlléo, Isabella, Gil-da-Silva-Lopes, Vera Lúcia

“…To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion…”
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Building a National Policy for Rare Disease in Brazil by Félix, Têmis Maria, Oliveira, Bibiana Mello de, Horovitz, Dafne Dain Gandelman

“…Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their…”
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Molecular analysis of holoprosencephaly in South America by Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena, Jr, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N, Castilla, Eduardo Enrique, Orioli, Iêda Maria

“…Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene…”
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Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network by de Oliveira, Bibiana Mello, Neiva, Mariane Barros, Carvalho, Isabelle, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Felix, Temis Maria

“…Introduction: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers…”
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PIGF deficiency causes a phenotype overlapping with DOORS syndrome by Salian, Smrithi, Benkerroum, Hind, Nguyen, Thi Tuyet Mai, Nampoothiri, Sheela, Kinoshita, Taroh, Félix, Têmis Maria, Stewart, Fiona, Sisodiya, Sanjay M., Murakami, Yoshiko, Campeau, Philippe M.

“…DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated…”
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Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil by da Costa Otavio, Andressa Colares, Teixeira, Adriane Ribeiro, Félix, Temis Maria, Rosito, Letícia Petersen Schimidt, da Costa, Sady Selaimen

“…Objective To characterize the audiological findings of a sample of patients with osteogenesis imperfecta (OI) in southern Brazil. Methods This was a…”
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Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study by Couto, Rowena Rubim, Kubaski, Francyne, Siebert, Marina, Félix, Têmis Maria, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra

“…Background and ObjectivesFragile X syndrome (FXS) is a neurodevelopmental disorder, identified as the most common cause of hereditary intellectual disability…”
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Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta by Brizola, Evelise, Staub, Ana Lúcia Portella, Félix, Têmis Maria

“…To analyze clinical and functional features of children and adolescents with osteogenesis imperfecta (OI). A cross-sectional study of 62 participants examined…”
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Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling by Baer, Sarah, Obringer, Cathy, Julia, Sophie, Chelly, Jameleddine, Capri, Yline, Gras, Domitille, Baujat, Geneviève, Felix, Têmis Maria, Doray, Berenice, Sanchez del Pozo, Jaime, Ramos, Lina M., Burglen, Lydie, Laugel, Vincent, Calmels, Nadège

“…Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under‐investigated…”
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A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population by Araujo, Tânia Kawasaki de, Secolin, Rodrigo, Félix, Têmis Maria, Souza, Liliane Todeschini de, Fontes, Marshall Ítalo Barros, Monlleó, Isabella Lopes, Souza, Josiane de, Fett-Conte, Agnes Cristina, Ribeiro, Erlane Marques, Xavier, Ana Carolina, Rezende, Adriana Augusto de, Simioni, Milena, Ribeiro-dos-Santos, Ândrea Kely Campos, Santos, Sidney Emanuel Batista dos, Gil-da-Silva-Lopes, Vera Lúcia

“…Abstract Purpose The aim of this study was to use the TaqMan OpenArray system to evaluate associations between 39 genes and the etiology of nonsyndromic cleft…”
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Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study by Alves, Domingos, Yamada, Diego Bettiol, Bernardi, Filipe Andrade, Carvalho, Isabelle, Filho, Márcio Eloi Colombo, Neiva, Mariane Barros, Lima, Vinícius Costa, Félix, Têmis Maria

“…A rare disease is a medical condition with low prevalence in the general population, but these can collectively affect up to 10% of the population. Thus, rare…”
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Tympanic Membrane Retractions in patients with Williams Syndrome: A Controlled Study by Oliveira, Marcelo Wierzynski, Lavinsky, Joel, Valerio, Marcel Machado, Felix, Temis Maria, Lavinsky, Luiz

“…Abstract Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related…”
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High dosage folic acid supplementation, oral cleft recurrence and fetal growth by Wehby, George L, Félix, Têmis Maria, Goco, Norman, Richieri-Costa, Antonio, Chakraborty, Hrishikesh, Souza, Josiane, Pereira, Rui, Padovani, Carla, Moretti-Ferreira, Danilo, Murray, Jeffrey C

“…To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. The study included 2,508 women who were at-risk for…”
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List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System by Cardoso-Dos-Santos, Augusto César, Medeiros-de-Souza, Ana Cláudia, Bremm, João Matheus, Alves, Ronaldo Fernandes Santos, Araújo, Valdelaine Etelvina Miranda de, Leite, Júlio Cesar Loguercio, Schuler-Faccini, Lavínia, Sanseverino, Maria Teresa Vieira, Karam, Simone de Menezes, Félix, Têmis Maria, Leal, Mariana Bertol, Macário, Eduardo Marques, Medeiros, Arnaldo Correia de, França, Giovanny Vinícius Araújo de

“…To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Based on the…”
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Further characterization of microdeletion syndrome involving 2p15‐p16.1 by Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.

“…We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root,…”
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Prevalence of the 35delG mutation in deaf South Brazilian infants submitted to cochlear implantation by Motta, Luiz Henrique Campos da, Félix, Têmis Maria, Souza, Liliane Todeschini de, Lavinsky-Wolff, Michelle, Costa-Motta, Fabiana Moura, Faria, Mauren Rocha de, Lavinsky, Luiz

“…Abstract Objective Determine the prevalence of 35delG mutation in GJB2 gene in patients with prelingual deafness of no defined etiology whose underwent…”
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The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population by Zanrosso, Crisiane Wais, Hatagima, Ana, Emerenciano, Mariana, Ramos, Flávio, Figueiredo, Alexandre, Félix, Têmis Maria, Segal, Sandra L., Giugliani, Roberto, Muniz, Maria Tereza Cartaxo, Pombo-de-Oliveira, Maria S.

“…The polymorphisms in the methylenetetrahydrofolate reductase ( MTHFR) gene are associated with leukemogenesis. In order to investigate the influence of two…”
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Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations by Mattos, Eduardo P, Sanseverino, Maria Teresa V, Magalhães, José Antônio A, Leite, Júlio César L, Félix, Temis Maria, Todeschini, Luiz Alberto, Cavalcanti, Denise P, Schüler-Faccini, Lavinia

“…Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed…”
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The Minimum Data Set for Rare Diseases: Systematic Review by Bernardi, Filipe Andrade, Mello de Oliveira, Bibiana, Bettiol Yamada, Diego, Artifon, Milena, Schmidt, Amanda Maria, Machado Scheibe, Victória, Alves, Domingos, Félix, Têmis Maria

“…The minimum data set (MDS) is a collection of data elements to be grouped using a standard approach to allow the use of data for clinical and research…”
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