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Erlane Marques Ribeiro on Muck Rack

Erlane Marques Ribeiro

As seen in: MDPI, Cell Press, Pediatrics, Dialnet - Universidad de La Rioja
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Articles

Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project

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By Rafael de Albuquerque, Gustavo de Oliveira, Marcel Caraciolo, Matheus Lima, Renata Yamada, Carolina Moreno, Eduardo Perrone, Kelin Chen, Michele Patricia Migliavacca, Caio Parente Barbosa, Angelina Xavier Acosta, Paula Correa, Denise Pontes Cavalcanti, Carlos Eduardo Steiner, Erlane Marques Ribeiro, Têmis Maria Félix, Ester Ramos, Thais Teixeira, Patricia Mota, João Oliveira, Luciana Souto Mofatto, Carolina Dias Carlos, Lucas Santos de Santana, Nuria Bengala Zurro, Vivian Pedigone Cintra, Gabriela Pereira Campilongo, Renata Moldenhauer Minillo, Karla de Oliveira Pelegrino, Joziele de Souza Lima, Anete Sevciovic Grumach, Luiza Zagne Braz, Marco Antonio Curiati, Paula Teixeira Lyra
| Cell Press Verified
1Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, São Paulo 05652-900, Brazil 2Universidade Federal de São Paulo, Departamento de Morfologia e Genética, Rua Botucatu 740, São Paulo 04023-000, Brazil 3Hospital Infantil João Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo Horizonte 30130-110, Brazil 4Centro Universitário Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000, Santo André 09060-870, Brazil 5Hospital Prof.
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Photoanthropometric craniofacial parameters in individuals with osteogenesis imperfecta

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By Felipe Marçal, Lara Moreno, Paulo-Goberlânio-de Barros Silva, Erlane Marques Ribeiro
| Dialnet - Universidad de La Rioja
Felipe Franco Marçal [1] ; Luiza Lassi de Araújo Lopes [1] ; Fábio Wildson Gurgel Costa [2] ; Lara Matos Moreno [3] ; Jorge Luiz Moreira Freire Júnior [3] ; Cauby Maia Chaves Júnior [2] ; Paulo Goberlânio de Barros Silva [4] ; Erlane Marques Ribeiro [5] ; Cristiane Sá Roriz Fonteles [6] ; Thyciana Rodrigues Ribeiro [2] [1] PhD, Postgraduate Program in Dentistry, Federal University of Ceará, Fortaleza, Ceará, Brazil [2] PhD, Adjunct Professor, Department of Clinical Dentistry, Federal...
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Brain Sciences | Free Full-Text | Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

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By Danielle Pessoa Lima, Tamiris Carneiro Mariano, Erlane Marques Ribeiro, Paulo Ribeiro Nóbrega
| MDPI
1. Introduction The dystrophin gene (DMD) is the largest gene described in human beings (locus Xp21.2-p21.1; OMIM#310200), spanning more than 2.5 million bp of the genomic sequence, which corresponds to about 0.1% of the total human genome or about 1.5% of the entire X chromosome [1]. RNA transcribed from the dystrophin gene is expressed predominantly in skeletal and cardiac muscle, with lower expression in brain tissue [1].
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