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

von Félix, Têmis Maria, Petrin, Aline Lourenço, Sanseverino, Maria Teresa Vieira, Murray, Jeffrey C.
Veröffentlicht 2010

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

von Oliveira, Marcelo Wierzynski, Lavinsky, Joel, Valerio, Marcel Machado, Felix, Temis Maria, Lavinsky, Luiz
Veröffentlicht in Int Arch Otorhinolaryngol (2021)

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

von Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Veröffentlicht in Health Qual Life Outcomes (2015)

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

von Brizola, Evelise, Zambrano, Marina Bauer, Pinheiro, Bruna de Souza, Vanz, Ana Paula, Félix, Têmis Maria
Veröffentlicht in Rev Paul Pediatr (2017)

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

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

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

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

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

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

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

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

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

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

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

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

von 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
Veröffentlicht 2012

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

von 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.
Veröffentlicht 2013

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

von 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
Veröffentlicht in Genet Mol Biol (2015)

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

von 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
Veröffentlicht in BMC Pediatr (2018)

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

von 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.
Veröffentlicht in Public Health Genomics (2016)

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

von 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
Veröffentlicht in Mol Syndromol (2020)

Oral cleft prevention program (OCPP)

von 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
Veröffentlicht 2012

Implementing the Brazilian Database on Orofacial Clefts

von 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
Veröffentlicht 2013

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

von 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
Veröffentlicht in 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

von 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
Veröffentlicht in Eur J Med Res (2016)