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Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulat...
Souza, Lucas Santos; Almeida, Camila Freitas; Yamamoto, Guilherme Lopes; Mingroni Pavanello, Rita de Cássia; Gurgel-Giannetti, JulianaMade available in DSpace on 2021-06-25T11:03:08Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01; Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. Methods Twelve Brazilian families with XLMTM were molecularly and clinically evaluated. In 2 families, 4 of 6 and 2 of 5 manifesting f...
Natural history of 39 patients with Achondroplasia
Ceroni, Jose Ricardo Magliocco; Soares, Diogo Cordeiro de Queiroz; Testai, Larissa de Cássia; Kawahira, Rachel Sayuri Honjo; Yamamoto, Guilherme LopesOBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The m...