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

af Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.
Udgivet 2010

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

af Oliveira, Marcelo Wierzynski, Lavinsky, Joel, Valerio, Marcel Machado, Felix, Temis Maria, Lavinsky, Luiz
Udgivet i Int Arch Otorhinolaryngol (2021)

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

af Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Udgivet i Health Qual Life Outcomes (2015)

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

af Brizola, Evelise, Zambrano, Marina Bauer, Pinheiro, Bruna de Souza, Vanz, Ana Paula, Félix, Têmis Maria
Udgivet i Rev Paul Pediatr (2017)

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

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

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

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

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

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

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

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

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

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

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

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

af 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
Udgivet 2012

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

af 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.
Udgivet 2013

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

af 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
Udgivet i Genet Mol Biol (2015)

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

af 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
Udgivet i BMC Pediatr (2018)

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

af 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.
Udgivet i Public Health Genomics (2016)

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

af 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
Udgivet i Mol Syndromol (2020)

Oral cleft prevention program (OCPP)

af 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
Udgivet 2012

Implementing the Brazilian Database on Orofacial Clefts

af 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
Udgivet 2013

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

af 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
Udgivet i 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

af 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
Udgivet i Eur J Med Res (2016)