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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome
(SPRINGER, 2011)
WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms` tumor, genital abnormalities and development of early nephropathy. The ...
Alterações genéticas e oftalmológicas na neurofibromatose tipo 2
(Universidade Federal de Minas GeraisBrasilMEDICINA - FACULDADE DE MEDICINAPrograma de Pós-Graduação em Medicina MolecularUFMG, 2019-02-01)
ABSTRACT
Genetic and Ocular Alterations in Neurofibromatosis type 2
Background: Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease, characterized by bilateral vestibular schwannomas, multiple central ...
PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients
(HOSPITAL CLINICAS, UNIV SAO PAULOSAO PAULO, 2012)
OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol ...
A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation
(Endocrine Society, 2005-06)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and ...
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
(Public Library of Science, 2017-12)
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ ...
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 ...
A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
(Wiley, 2018-09)
We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (<i>GCKR</i>) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type ...
VHL germline mutations in Argentinian patients with clinical diagnosis or single typical manifestations of type 1 von Hippel-Lindau disease
(Mary Ann Liebert, 2016-07)
Aims: von Hippel-Lindau (VHL) disease is caused by mutations in the VHL tumor-suppressor gene. As tumors that develop in the context of VHL also occur in a sporadic context, the frequency of this syndrome may be underestimated. ...