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Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation
(SPRINGER, 2010)
von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas ...
Candida albicans: genotyping methods and clade related phenotypic characteristics
(Sociedade Brasileira de Microbiologia, 2010-12-01)
Several molecular methods, such as Southern blotting hybridization, Multilocus Sequence Typing, and DNA microsatellite analysis, have been employed to genotype Candida albicans. The genotype analysis allows to group strains ...
Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
(2013)
The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ...
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
(Associação Brasileira de Divulgação Científica, 2003)
Candida albicans: genotyping methods and clade related phenotypic characteristics
(Sociedade Brasileira de Microbiologia, 2015)
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
(Elsevier Masson, 2013-01)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...
Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
(AMER SOC NEPHROLOGY, 2010)
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset ...