Genetic causes of intellectual disability in a birth cohort: A population-based study
Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto, Black, Maureen
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects
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
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta
Magalhaes, Otavio A, Rohenkohl, Helena C, de Souza, Liliane Todeschini, Schuler-Faccini, Lavinia, Félix, Têmis M
Published in Cornea (01.12.2018)
Published in Cornea (01.12.2018)
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Journal Article
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
Manzoli, Gabrielle N., Bademci, Guney, Acosta, Angelina X., Félix, Têmis M., Cengiz, F.Basak, Foster, Joseph, Da Silva, Danniel S. Dias, Menendez, Ibis, Sanchez‐Pena, Isalis, Tekin, Demet, Blanton, Susan H., Abe‐Sandes, Kiyoko, Liu, Xue Zhong, Tekin, Mustafa
Published in Annals of human genetics (01.11.2016)
Published in Annals of human genetics (01.11.2016)
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Journal Article
Building a National Policy for Rare Disease in Brazil
Félix, Têmis Maria, Oliveira, Bibiana Mello de, Horovitz, Dafne Dain Gandelman
Published in Journal of community genetics (26.09.2024)
Published in Journal of community genetics (26.09.2024)
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Journal Article
Echocardiographic study in children with osteogenesis imperfecta
Pinheiro, Bruna S., Barrios, Patrícia M., Souza, Liliane T., Félix, Têmis M.
Published in Cardiology in the young (01.10.2020)
Published in Cardiology in the young (01.10.2020)
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Journal Article
Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network
de Oliveira, Bibiana Mello, Neiva, Mariane Barros, Carvalho, Isabelle, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Felix, Temis Maria
Published in Public health genomics (01.01.2023)
Published in Public health genomics (01.01.2023)
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Journal Article
Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta
Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Published in Health and quality of life outcomes (01.04.2015)
Published in Health and quality of life outcomes (01.04.2015)
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Journal Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome
Salian, Smrithi, Benkerroum, Hind, Nguyen, Thi Tuyet Mai, Nampoothiri, Sheela, Kinoshita, Taroh, Félix, Têmis Maria, Stewart, Fiona, Sisodiya, Sanjay M., Murakami, Yoshiko, Campeau, Philippe M.
Published in Human genetics (01.06.2021)
Published in Human genetics (01.06.2021)
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Journal Article
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
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
Published in PLoS genetics (01.12.2005)
Published in PLoS genetics (01.12.2005)
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Journal Article
Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil
da Costa Otavio, Andressa Colares, Teixeira, Adriane Ribeiro, Félix, Temis Maria, Rosito, Letícia Petersen Schimidt, da Costa, Sady Selaimen
Published in European archives of oto-rhino-laryngology (01.04.2020)
Published in European archives of oto-rhino-laryngology (01.04.2020)
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Genomic imbalances in syndromic congenital heart disease
Molck, Miriam Coelho, Simioni, Milena, Paiva Vieira, Társis, Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Souza, Josiane, Fett-Conte, Agnes Cristina, Félix, Têmis Maria, Lopes Monlléo, Isabella, Gil-da-Silva-Lopes, Vera Lúcia
Published in Jornal de pediatria (01.09.2017)
Published in Jornal de pediatria (01.09.2017)
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Journal Article
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Masotti, Cibele, Ornelas, Camila C, Splendore-Gordonos, Alessandra, Moura, Ricardo, Félix, Têmis M, Alonso, Nivaldo, Camargo, Anamaria A, Passos-Bueno, Maria Rita
Published in BMC genetics (14.12.2009)
Published in BMC genetics (14.12.2009)
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Journal Article
Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study
Alves, Domingos, Yamada, Diego Bettiol, Bernardi, Filipe Andrade, Carvalho, Isabelle, Filho, Márcio Eloi Colombo, Neiva, Mariane Barros, Lima, Vinícius Costa, Félix, Têmis Maria
Published in JMIR research protocols (22.01.2021)
Published in JMIR research protocols (22.01.2021)
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Journal Article
Pathophysiology and therapeutic options in osteogenesis imperfecta: an update
Shapiro, Jay, Brizola, Evelise, Felix, Temis
Published in Research and reports in endocrine disorders (01.01.2016)
Published in Research and reports in endocrine disorders (01.01.2016)
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Journal Article
CHD7 gene and non-syndromic cleft lip and palate
Félix, Têmis M., Hanshaw, Benjamin C., Mueller, Robert, Bitoun, Pierre, Murray, Jeffrey C.
Published in American journal of medical genetics. Part A (01.10.2006)
Published in American journal of medical genetics. Part A (01.10.2006)
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