Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1

Por Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.
Publicado em 2010

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

Por Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Publicado no Health Qual Life Outcomes (2015)

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 no Rev Paul Pediatr (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 no Genet Mol Biol (2019)

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Por Brizola, Evelise, Mattos, Eduardo P., Ferrari, Jessica, Freire, Patricia O.A., Germer, Raquel, Llerena Jr, Juan C., Félix, Têmis M.
Publicado no Mol Syndromol (2015)

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Por Masotti, Cibele, Ornelas, Camila C, Splendore-Gordonos, Alessandra, Moura, Ricardo, Félix, Têmis M, Alonso, Nivaldo, Camargo, Anamaria A, Passos-Bueno, Maria Rita
Publicado em 2009

Searching for Genes for Cleft Lip and/or Palate Based on Breakpoint Analysis of a Balanced Translocation t(9;17)(q32;q12)

Por Machida, Junichiro, Félix, Têmis M., Murray, Jeffrey C., Yoshiura, Koh-ichiro, Tanemura, Mitsuyo, Kamamoto, Munefumi, Shimozato, Kazuo, Sonta, Shin-ichi, Ono, Takao
Publicado em 2009

Genetic causes of intellectual disability in a birth cohort: A population‐based study

Por Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto, Black, Maureen
Publicado no Am J Med Genet A (2015)

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 no JMIR Res Protoc (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 em 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 em 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 no Genet Mol Biol (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 no BMC Pediatr (2018)

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

Por Karam, Simone M., Barros, Aluísio J.D., Matijasevich, Alícia, dos Santos, Iná S., Anselmi, Luciana, Barros, Fernando, Leistner-Segal, Sandra, Félix, Têmis M., Riegel, Mariluce, Maluf, Sharbel W., Giugliani, Roberto, Black, Maureen M.
Publicado no Public Health Genomics (2016)

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

Por Gomes, Maria E., Calatrava Paternostro, Luiza, Moura, Valéria R., Antunes, Deborah, Caffarena, Ernesto R., Horovitz, Dafne, Sanseverino, Maria T., Ferraz Leal, Gabriela, Felix, Têmis M., Pontes Cavalcanti, Denise, Clinton Llerena Jr., Juan, Gonzalez, Sayonara
Publicado no Mol Syndromol (2020)

Oral cleft prevention program (OCPP)

Por Wehby, George L, Goco, Norman, Moretti-Ferreira, Danilo, Felix, Temis, Richieri-Costa, Antonio, Padovani, Carla, Queiros, Fernanda, Guimaraes, Camilla Vila Nova, Pereira, Rui, Litavecz, Steve, Hartwell, Tyler, Chakraborty, Hrishikesh, Javois, Lorette, Murray, Jeffrey C
Publicado em 2012

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 em 2013

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Por MANZOLI, GABRIELLE N., BADEMCI, GUNEY, ACOSTA, ANGELINA X., FÉLIX, TÊMIS M., CENGIZ, F.BASAK, FOSTER, JOSEPH, DIAS DA SILVA, DANNIEL S., MENENDEZ, IBIS, SANCHEZ-PENA, ISALIS, TEKIN, DEMET, BLANTON, SUSAN H., ABE-SANDES, KIYOKO, LIU, XUE ZHONG, TEKIN, MUSTAFA
Publicado no Ann Hum Genet (2016)

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 no Eur J Med Res (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 em 2012