Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Published in Cancers (05.08.2022)
Published in Cancers (05.08.2022)
Get full text
Journal Article
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia
Lovatel, Viviane Lamim, de Souza, Daiane Corrêa, Alvarenga, Tatiana Fonseca, Capela de Matos, Roberto R, Diniz, Claudia, Schramm, Marcia Trindade, Llerena Júnior, Juan Clinton, Silva, Maria Luiza Macedo, Abdelhay, Eliana, de Souza Fernandez, Teresa
Published in Molecular cytogenetics (11.07.2018)
Published in Molecular cytogenetics (11.07.2018)
Get full text
Journal Article
Strategic analysis of a medical genetics center at a national health research institute in Brazil: challenges for the country's public health system
Artmann, Elizabeth, Llerena, Juan Clinton, Junior, Pereira, Laura Terezina, Binsfeld, Luciane, Rivera, Francisco Javier Uribe
Published in Ciência & saude coletiva (15.09.2021)
Published in Ciência & saude coletiva (15.09.2021)
Get full text
Journal Article
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
Bendas Feres Lima, Ingrid, Fátima Marques de Moraes, Lúcia de, Roberto da Fonseca, Carlos, Clinton Llerena Junior, Juan, Mehrjouy, Mana, Tommerup, Niels, Ferreira Bastos, Elenice
Published in Molecular cytogenetics (12.07.2024)
Published in Molecular cytogenetics (12.07.2024)
Get full text
Journal Article
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Ferreira, Igor Ribeiro, Costa, Régis Afonso, Gomes, Leonardo Henrique Ferreira, dos Santos Cunha, Wilton Darleans, Tyszler, Latife Salomão, Freitas, Silvia, Llerena Junior, Juan Clinton, de Vasconcelos, Zilton Farias Meira, Nicholls, Robert D., Guida, Letícia da Cunha
Published in Scientific reports (03.08.2020)
Published in Scientific reports (03.08.2020)
Get full text
Journal Article
Sickle-Cell Disease and Stroke: Quality of Life of Patients in a Chronic Transfusion Regimen from the Caregivers' Perspective
Cerqueira, Maria Aline Ferreira de, Couto, Luciana Maria Fortes Magalhães Castelo Branco, Parente, Mírian Perpétua Palha Dias, Llerena, Juan Clinton
Published in Pediatric hematology and oncology (03.10.2023)
Published in Pediatric hematology and oncology (03.10.2023)
Get full text
Journal Article
A concepcao de familia e religiosidade presente nos discursos produzidos por profissionais medicos acerca de criancas com doencas geneticas
Martins, Antilia Januária, de Almeida Cardoso, Maria Helena Cabral, Júnior, Juan Clinton Llerena, Moreira, Martha Cristina Nunes
Published in Ciência & saude coletiva (01.02.2012)
Published in Ciência & saude coletiva (01.02.2012)
Get full text
Journal Article
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
Llerena Junior, Juan Clinton, Nascimento, Osvaldo Jm, Oliveira, Acary Souza B, Dourado Junior, Mario Emilio T, Marrone, Carlo D, Siqueira, Heloise Helena, Sobreira, Cláudia F R, Dias-Tosta, Elza, Werneck, Lineu Cesar
Published in Arquivos de neuro-psiquiatria (01.02.2016)
Published in Arquivos de neuro-psiquiatria (01.02.2016)
Get full text
Journal Article
Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família
Vieira, Daniela Koeller Rodrigues, Horovitz, Dafne Dain Gandelman, Llerena Júnior, Juan Clinton
Published in Revista brasileira de medicina de família e comunidade (02.07.2012)
Published in Revista brasileira de medicina de família e comunidade (02.07.2012)
Get full text
Journal Article
Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS
Artmann, Elizabeth, Llerena Junior, Juan Clinton, Pereira, Laura Terezina, Binsfeld, Luciane, Rivera, Francisco Javier Uribe
Published in Ciência & saude coletiva (2021)
Published in Ciência & saude coletiva (2021)
Get full text
Journal Article
Kabuki Syndrome: a case report with severe ocular abnormalities
Flavio Mac Cord Medina, Pamela Rodriguez, Renata Tavares de Souza Cabral, Marcia Brazuna de Castro, Juan Clinton Llerena Junior, Ricardo Miguel Japiassú
Published in Revista Brasileira de Oftalmologia (01.10.2013)
Published in Revista Brasileira de Oftalmologia (01.10.2013)
Get full text
Journal Article
A concepção de família e religiosidade presente nos discursos produzidos por profissionais médicos acerca de crianças com doenças genéticas
Martins, Antilia Januária, Cardoso, Maria Helena Cabral de Almeida, Llerena Júnior, Juan Clinton, Moreira, Martha Cristina Nunes
Published in Ciência & saude coletiva (01.02.2012)
Published in Ciência & saude coletiva (01.02.2012)
Get full text
Journal Article
Sirenomelia associada a defeitos congênitos raros: relato de três casos
Lima, Maria Angélica F. D., Machado, Heloisa Novaes, Dock, Dione Correa de Araújo, Villar, Maria Auxiliadora Monteiro, Llerena Junior, Juan Clinton
Published in Jornal brasileiro de patologia e medicina laboratorial (01.08.2012)
Published in Jornal brasileiro de patologia e medicina laboratorial (01.08.2012)
Get full text
Journal Article
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos
Published in Orphanet journal of rare diseases (24.02.2022)
Published in Orphanet journal of rare diseases (24.02.2022)
Get full text
Journal Article
Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases
Martins, Antilia Januária, Maria Helena Cabral deAlmeida Cardoso, Juan Clinton Llerena Júnior, Nunes Moreira, Martha Cristina
Published in Ciência & saude coletiva (01.02.2012)
Published in Ciência & saude coletiva (01.02.2012)
Get full text
Journal Article
Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência
Larangeira, Gustavo Henrique Torraca, Souza, Laila Maria Silveira Gallo de, Almeida, Julia Valeriano de, Moraes, Yuri Costa de Araujo, Correia, Patricia Santana, Horovitz, Dafne Dain Gandelman, Llerena Junior, Juan Clinton
Published in Clinical and Biomedical Research (10.05.2022)
Published in Clinical and Biomedical Research (10.05.2022)
Get full text
Journal Article
Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS
Artmann, Elizabeth, Llerena Junior, Juan Clinton, Pereira, Laura Terezina, Binsfeld, Luciane, Rivera, Francisco Javier Uribe
Published in Ciência & saude coletiva (2021)
Published in Ciência & saude coletiva (2021)
Get full text
Journal Article
Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência
Gustavo Henrique Torraca Larangeira, Laila Maria Silveira Gallo de Souza, Julia Valeriano de Almeida, Yuri Costa de Araujo Moraes, Patricia Santana Correia, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena Junior
Published in Clinical and Biomedical Research (01.05.2022)
Get full text
Published in Clinical and Biomedical Research (01.05.2022)
Journal Article
Perfil dos óbitos de recém-nascidos ocorridos na sala de parto de uma maternidade do Rio de Janeiro, 2010-2012
Oliveira, Amanda Regina Ribeiro de, Llerena Junior, Juan Clinton, Costa, Maria de Fátima dos Santos
Published in Epidemiologia e serviços de saúde (01.09.2013)
Published in Epidemiologia e serviços de saúde (01.09.2013)
Get full text
Journal Article