Publications by authors named "Temis Maria Felix"

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Building a National Policy for Rare Disease in Brazil.
Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz

J Community Genet· August 2025

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Promoting Comprehensive Care for People With Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study.
Domingos Alves, Filipe Andrade Bernardi, Vinicius Costa Lima, Diego Bettiol Yamada, Tatiana Takahasi Komoto

JMIR Res Protoc· August 2025

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Is late diagnosis of Duchenne muscular dystrophy still a reality?
Michele Michelin Beckerq, Juliana Gurgel-Giannetti, Alexandra Prufer de Queiroz Campos Araujo, Marcela Câmara Machado Costa, Têmis Maria Félix

Eur J Paediatr Neurol· July 2025

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Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.
Andressa Colares da Costa Otavio, Mariana Vicereki Trescastro, Hilton Justino da Silva, Erissandra Gomes, Têmis Maria Félix

Codas· January 2025

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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
Amaro Freire de Queiroz Júnior, Maria Teresa Vieira Sanseverino, Marcus Vinicius Martins Collares, Adriana Fornari, Luiza Amaral do Virmond

Am J Med Genet A· December 2024

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Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.
Isabela Mayá Wayhs Silva, Milena Atique Tacla, Erlane Marques Ribeiro, Elaine Lustosa-Mendes, Agnes Cristina Fett-Conte

J Pediatr (Rio J)· October 2024

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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Giselle Maria Araujo Felix Adjuto

Orphanet J Rare Dis· October 2024

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Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta.
Arthur Cherem Netto Fernandes, Têmis Maria Félix

Rev Paul Pediatr· September 2024

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Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.
Dafne Dain Gandelman Horovitz, Têmis Maria Félix, Victor Evangelista de Faria Ferraz

Genes (Basel)· July 2024

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, Têmis Maria Felix

Sci Rep· June 2024

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22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes

Genes (Basel)· April 2024

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Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.
Bibiana Mello de Oliveira, Mariane Barros Neiva, Isabelle Carvalho, Ida Vanessa Doederlein Schwartz, Domingos Alves, Temis Maria Felix

Public Health Genomics· December 2023

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The Minimum Data Set for Rare Diseases: Systematic Review.
Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, Milena Artifon, Amanda Maria Schmidt

J Med Internet Res· July 2023

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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli

Int J Equity Health· January 2023

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Etiology of early hearing loss in Brazilian children.
Marina Faistauer, Alice Lang Silva, Têmis Maria Félix, Liliane Todeschini de Souza, Renata Bohn

Braz J Otorhinolaryngol· December 2022

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Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.
Rowena Rubim Couto, Francyne Kubaski, Marina Siebert, Têmis Maria Félix, Ana Carolina Brusius-Facchin

Neurol Genet· December 2022

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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg

BMC Pediatr· August 2022

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Does universal newborn hearing screening impact the timing of deafness treatment?
Marina Faistauer, Alice Lang Silva, Daniela de Oliveira Ruiz Dominguez, Renata Bohn, Têmis Maria Félix

J Pediatr (Rio J)· April 2022

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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi

Orphanet J Rare Dis· February 2022

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List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.
Augusto César Cardoso-Dos-Santos, Ana Cláudia Medeiros-de-Souza, João Matheus Bremm, Ronaldo Fernandes Santos Alves, Valdelaine Etelvina Miranda de Araújo

Epidemiol Serv Saude· October 2021

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Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Luna Lira Bergamini, Samira Spineli-Silva, Têmis Maria Félix, Vera L Gil-da-Silva-Lopes, Tarsis P Vieira

Congenit Anom (Kyoto)· September 2021

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Tympanic Membrane Retractions in patients with Williams Syndrome: A Controlled Study.
Marcelo Wierzynski Oliveira, Joel Lavinsky, Marcel Machado Valerio, Temis Maria Felix, Luiz Lavinsky

Int Arch Otorhinolaryngol· July 2021

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PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Smrithi Salian, Hind Benkerroum, Thi Tuyet Mai Nguyen, Sheela Nampoothiri, Taroh Kinoshita

Hum Genet· June 2021

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A new case of osteogenesis imperfecta type VIII and retinal detachment.
Liliane Todeschini de Souza, Ricardo Rodrigues Nunes, Otavio de Azevedo Magalhães, Têmis Maria Félix

Am J Med Genet A· January 2021

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Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.
Domingos Alves, Diego Bettiol Yamada, Filipe Andrade Bernardi, Isabelle Carvalho, Márcio Eloi Colombo Filho

JMIR Res Protoc· January 2021

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