A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients von Ribeiro Ferreira, Igor, Darleans dos Santos Cunha, Wilton, Henrique Ferreira Gomes, Leonardo, Azevedo Cintra, Hiago, Lopes Cabral Guimarães Fonseca, Letícia, Ferreira Bastos, Elenice, Clinton Llerena, Juan, Farias Meira de Vasconcelos, Zilton, Cunha Guida, Letícia

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Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil von Sixel, Bruna de Souza, Silva, Luanda Dias da, Cavalcanti, Nicolette Celani, Penque, Glória Maria Cardoso de Andrade, Lisboa, Sandra, Horovitz, Dafne Dain Gandelman, Llerena, Jr, Juan Clinton

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Cholelithiasis and biliary sludge in Downs syndrome patients von Boëchat, Márcia Cristina Bastos, Silva, Kátia Silveira da, Llerena, Jr, Juan Clinton, Boëchat, Paulo Roberto Mafra

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miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes von de Carvalho, Joseane Biso, de Morais, Guilherme Loss, Vieira, Thays Cristine Dos Santos, Rabelo, Natana Chaves, Llerena, Jr, Juan Clinton, Gonzalez, Sayonara Maria de Carvalho, de Vasconcelos, Ana Tereza Ribeiro

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Molecular analysis of holoprosencephaly in South America von Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena, Jr, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N, Castilla, Eduardo Enrique, Orioli, Iêda Maria

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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

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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 von Gomes, Maria Eduarda, Kehdy, Fernanda, de Neves-Manta, Fernanda Saloum, Horovitz, Dafne Dain Gandelman, Sanseverino, Maria Teresa, Leal, Gabriela Ferraz, Felix, Têmis Maria, Cavalcanti, Denise Pontes, Llerena, Juan Clinton, Gonzalez, Sayonara

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Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy‐Walker malformation von Nakamura‐Pereira, Marcos, Cima, Luciana Carneiro do, Llerena, Juan Clinton, Guerra, Fernando Antonio Ramos, Peixoto‐Filho, Fernando Maia

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Physiotherapy and patients with osteogenesis imperfecta: an experience report von Moreira, Carmem Lia Martins, Gilbert, Ana Cristina Bohrer, Lima, Maria Angélica de Faria Domingues, Cardoso, Maria Helena Cabral de Almeida, Llerena Jr, Juan Clinton

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A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease von Dornelles, Alícia Dorneles, Junges, Ana Paula Pedroso, Pereira, Tiago Veiga, Krug, Bárbara Corrêa, Gonçalves, Candice Beatriz Treter, Llerena, Juan Clinton, Kishnani, Priya Sunil, de Oliveira, Haliton Alves, Schwartz, Ida Vanessa Doederlein

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Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis von Muñoz-Rojas, María Verónica, Horovitz, Dafne Dain Gandelman, Jardim, Laura Bannach, Raymundo, Marcia, Llerena, Juan Clinton, de Magalhães, Tatiana de Sá Carneiro Pacheco, Vieira, Taiane Alves, Costa, Ronaldo, Kakkis, Emil, Giugliani, Roberto

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Spinal cord compression in young children with type VI mucopolysaccharidosis von Horovitz, Dafne Dain Gandelman, Magalhães, Tatiana de Sá Pacheco Carneiro, e Costa, Alessandra Pena, Carelli, Luis Eduardo, e Silva, Daniel Souza, de Linhares e Riello, Anna Patricia Freitas, Llerena, Juan Clinton

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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report von Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Jr, Juan Clinton

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Medical Genetic Services in the State of Rio de Janeiro, Brazil von Horovitz, Dafne Dain Gandelman, de Mattos, Ruben Araújo, Llerena, Juan Clinton

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Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis von dos Santos, Anna Cláudia Evangelista, Midleton, Sônia Regina, Fonseca, Regina Lugarinho, dos Santos, Suely Rodrigues, Llerena, Jr, Juan Clinton, Vargas, Fernando Regla

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Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia von Rodriguez, David Enrique Aguilar, Lima, Carmen Silvia Passos, Lourenço, Gustavo Jacob, Figueiredo, Maria Estela, Carneiro, Jorge David Aivazoglu, Tone, Luiz Gonzaga, Llerena Jr, Juan Clinton, Toscano, Raquel Alves, Brandalise, Silvia, Pinto Júnior, Walter, Costa, Fernando Ferreira, Bertuzzo, Carmen Sílvia

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Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy von de Almeida Thomazinho, Paula, Scalco, Fernanda Bertão, de Oliveira, Maria Lúcia Costa, Horovitz, Dafne Dain Gandelman, Llerena Jr, Juan Clinton

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Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases von Martins, Antilia Januária, Cardoso, Maria Helena Cabral de Almeida, Llerena, Jr, Juan Clinton, Moreira, Martha Cristina Nunes

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Birth defects in Rio de Janeiro, Brazil: an evaluation through birth certificates (2000-2004) von Guerra, Fernando Antônio Ramos, Llerena, Jr, Juan Clinton, Gama, Silvana Granado Nogueira da, Cunha, Cynthia Braga da, Theme Filha, Mariza Miranda

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Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004 von Guerra, Fernando Antônio Ramos, Llerena, Jr, Juan Clinton, Gama, Silvana Granado Nogueira da, Cunha, Cynthia Braga da, Theme Filha, Mariza Miranda

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