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

Autor Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.
Vydáno 2010

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

Autor Oliveira, Marcelo Wierzynski, Lavinsky, Joel, Valerio, Marcel Machado, Felix, Temis Maria, Lavinsky, Luiz
Vydáno v Int Arch Otorhinolaryngol (2021)

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

Autor Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Vydáno v Health Qual Life Outcomes (2015)

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

Autor Brizola, Evelise, Zambrano, Marina Bauer, Pinheiro, Bruna de Souza, Vanz, Ana Paula, Félix, Têmis Maria
Vydáno v Rev Paul Pediatr (2017)

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

Autor Pinheiro, Bruna, Zambrano, Marina B., Vanz, Ana Paula, Brizola, Evelise, de Souza, Liliane Todeschini, Félix, Têmis Maria
Vydáno v Genet Mol Biol (2019)

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Autor Brizola, Evelise, Mattos, Eduardo P., Ferrari, Jessica, Freire, Patricia O.A., Germer, Raquel, Llerena Jr, Juan C., Félix, Têmis M.
Vydáno v Mol Syndromol (2015)

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

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

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

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

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

Autor Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto, Black, Maureen
Vydáno v 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

Autor Alves, Domingos, Yamada, Diego Bettiol, Bernardi, Filipe Andrade, Carvalho, Isabelle, Filho, Márcio Eloi Colombo, Neiva, Mariane Barros, Lima, Vinícius Costa, Félix, Têmis Maria
Vydáno v JMIR Res Protoc (2021)

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

Autor 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
Vydáno 2012

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

Autor 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.
Vydáno 2013

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

Autor 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
Vydáno v Genet Mol Biol (2015)

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

Autor 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
Vydáno v BMC Pediatr (2018)

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

Autor 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.
Vydáno v Public Health Genomics (2016)

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

Autor 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
Vydáno v Mol Syndromol (2020)

Oral cleft prevention program (OCPP)

Autor 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
Vydáno 2012

Implementing the Brazilian Database on Orofacial Clefts

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v 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

Autor 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
Vydáno v Eur J Med Res (2016)