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Mostrando ítems 11-20 de 133
Acquired restrictive strabismus in infancy associated with neurofibromatosis type 2
(Universidade Federal de Minas GeraisBrasilMED - DEPARTAMENTO DE OFTALMOLOGIA E OTORRINOLARINGOLOGIAMED - DEPARTAMENTO DE PEDIATRIAUFMG, 2016-01-23)
Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation
(Associação Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial, 2011-08-01)
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
(Sociedade Brasileira de Genética, 2004-01-01)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD ...
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
(Sociedade Brasileira de Genética, 2004-01-01)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD ...
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
(Sociedade Brasileira de Genética, 2014)
Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae
(Karger, 2004-01-01)
Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, ...
Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae
(Karger, 2004-01-01)
Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, ...
High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
(Associação Brasileira de Divulgação Científica (ABRADIC), 2005-09-01)
A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients ...
High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
(Associação Brasileira de Divulgação Científica (ABRADIC), 2005-09-01)
A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients ...