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Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
(2013-03-01)
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
(2013-03-01)
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
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 ...
Novel Mutations in CYP11B1 Gene Leading to 11 beta-Hydroxylase Deficiency in Brazilian Patients
(ENDOCRINE SOC, 2009)
Background: Deficiency of 11 beta-hydroxylase results in the impairment of the last step of cortisol synthesis. In females, the phenotype of this disorder includes different degrees of genital ambiguity and arterial ...
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
(Kluwer Academic Publ, 2002-11-01)
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two ...
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 ...