Tympanic Membrane Retractions in patients with Williams Syndrome: A Controlled Study

por Oliveira, Marcelo Wierzynski, Lavinsky, Joel, Valerio, Marcel Machado, Felix, Temis Maria, Lavinsky, Luiz
Publicado 2021

CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN

por Brizola, Evelise, Zambrano, Marina Bauer, Pinheiro, Bruna de Souza, Vanz, Ana Paula, Félix, Têmis Maria
Publicado 2017

Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center

por Pinheiro, Bruna, Zambrano, Marina B., Vanz, Ana Paula, Brizola, Evelise, de Souza, Liliane Todeschini, Félix, Têmis Maria
Publicado 2019

Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study

por Couto, Rowena Rubim, Kubaski, Francyne, Siebert, Marina, Félix, Têmis Maria, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra
Publicado 2022

Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network

por de Oliveira, Bibiana Mello, Neiva, Mariane Barros, Carvalho, Isabelle, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Félix, Temis Maria
Publicado 2023

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

por Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto
Publicado 2023

Etiology of early hearing loss in Brazilian children

por Faistauer, Marina, Lang Silva, Alice, Félix, Têmis Maria, Todeschini de Souza, Liliane, Bohn, Renata, Selaimen da Costa, Sady, Petersen Schmidt Rosito, Letícia
Publicado 2021

The Minimum Data Set for Rare Diseases: Systematic Review

por Bernardi, Filipe Andrade, Mello de Oliveira, Bibiana, Bettiol Yamada, Diego, Artifon, Milena, Schmidt, Amanda Maria, Machado Scheibe, Victória, Alves, Domingos, Félix, Têmis Maria
Publicado 2023

Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study

por Alves, Domingos, Yamada, Diego Bettiol, Bernardi, Filipe Andrade, Carvalho, Isabelle, Filho, Márcio Eloi Colombo, Neiva, Mariane Barros, Lima, Vinícius Costa, Félix, Têmis Maria
Publicado 2021

Does universal newborn hearing screening impact the timing of deafness treatment?

por Faistauer, Marina, Silva, Alice Lang, Dominguez, Daniela de Oliveira Ruiz, Bohn, Renata, Félix, Têmis Maria, Costa, Sady Selaimen da, Rosito, Letícia Petersen Schmidt
Publicado 2021

Maternal drinking behavior and Fetal Alcohol Spectrum Disorders in adolescents with criminal behavior in southern Brazil

por Momino, Wakana, Félix, Têmis Maria, Abeche, Alberto Mantovani, Zandoná, Denise Isabel, Scheibler, Gabriela Gayer, Chambers, Christina, Jones, Kenneth Lyons, Flores, Renato Zamora, Schüler-Faccini, Lavínia
Publicado 2012

High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

por 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.
Publicado 2013

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

por 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
Publicado 2015

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™

por Vanz, Ana Paula, van de Sande Lee, Juliana, Pinheiro, Bruna, Zambrano, Marina, Brizola, Evelise, da Rocha, Neusa Sicca, Schwartz, Ida Vanessa D., de Souza Pires, Maria Marlene, Félix, Têmis Maria
Publicado 2018

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

por 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
Publicado 2022

Implementing the Brazilian Database on Orofacial Clefts

por Monlleó, Isabella Lopes, Fontes, Marshall Ítalo Barros, Ribeiro, Erlane Marques, de Souza, Josiane, Leal, Gabriela Ferraz, Félix, Têmis Maria, Fett-Conte, Agnes Cristina, Bueno, Bruna Henrique, Magna, Luis Alberto, Mossey, Peter Anthony, Gil-da Silva-Lopes, Vera
Publicado 2013

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

por Araujo, Thaís Fenz, Ribeiro, Erlane Marques, Arruda, Anderson Pontes, Moreno, Carolina Araujo, de Medeiros, Paula Frassinetti Vasconcelos, Minillo, Renata Moldenhauer, Melo, Débora Gusmão, Kim, Chong Ae, Doriqui, Maria Juliana Rodovalho, Felix, Têmis Maria, Fock, Rodrigo Ambrosio, Cavalcanti, Denise Pontes
Publicado 2016

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

por Araújo, Tânia Kawasaki, Simioni, Milena, Félix, Têmis Maria, de Souza, Liliane Todeschini, Fontes, Marshall Ítalo Barros, Monlleó, Isabella Lopes, Souza, Josiane, Fett-Conte, Agnes Cristina, Secolin, Rodrigo, Lopes-Cendes, Iscia, Maurer-Morelli, Cláudia Vianna, Gil-da-Silva-Lopes, Vera Lúcia
Publicado 2012

Molecular analysis of holoprosencephaly in South America

por 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, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N., Castilla, Eduardo Enrique, Orioli, Iêda Maria
Publicado 2014

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

por Llerena, Juan, Kim, Chong Ae, Fano, Virginia, Rosselli, Pablo, Collett-Solberg, Paulo Ferrez, de Medeiros, Paula Frassinetti Vasconcelos, del Pino, Mariana, Bertola, Débora, Lourenço, Charles Marques, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Rosa-Bellas, Antonio, Rossi, Norma Teresa, Cortes, Fanny, Abreu, Flávia, Cavalcanti, Nicolette, Ruz, Maria Cecilia Hervias, Baratela, Wagner
Publicado 2022