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 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)

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)

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)

Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

Por Vieira, Alexandre R, Avila, Joseph R, Daack-Hirsch, Sandra, Dragan, Ecaterina, Félix, Têmis M, Rahimov, Fedik, Harrington, Jill, Schultz, Rebecca R, Watanabe, Yoriko, Johnson, Marla, Fang, Jennifer, O'Brien, Sarah E, Orioli, Iêda M, Castilla, Eduardo E, FitzPatrick, David R, Jiang, Rulang, Marazita, Mary L, Murray, Jeffrey C
Publicado em 2005

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Por Favaro, Francine P., Alvizi, Lucas, Zechi-Ceide, Roseli M., Bertola, Debora, Felix, Temis M., de Souza, Josiane, Raskin, Salmo, Twigg, Stephen R.F., Weiner, Andrea M.J., Armas, Pablo, Margarit, Ezequiel, Calcaterra, Nora B., Andersen, Gregers R., McGowan, Simon J., Wilkie, Andrew O.M., Richieri-Costa, Antonio, de Almeida, Maria L.G., Passos-Bueno, Maria Rita
Publicado em 2014

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Por Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Publicado no Neurology (2016)