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Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders
(OXFORD UNIV PRESS, 2011)
With the availability of a large amount of genomic data it is expected that the influence of single nucleotide variations (SNVs) in many biological phenomena will be elucidated. Here, we approached the problem of how SNVs ...
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
(2007-07-02)
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The ...
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
(2007-07-02)
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The ...
Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype
(ELSEVIER SCIENCE BV, 2011)
Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability
(PERGAMON-ELSEVIER SCIENCE LTD, 2009)
The deficiency of complement C5 is rare and frequently associated with severe and recurrent infections, especially caused by Neisseria spp. We observed the absence of component C5 in the serum of 3 siblings from a Brazilian ...
Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
(Breast Cancer Res Treat, 2009-03-31)
The frequency and spectrum of germ line mutations in the
high-penetrance breast cancer susceptibility genes BRCA1
and BRCA2 shows considerable variation by ethnic group.
Most genetic epidemiological studies of the BRCA ...
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis
(Sociedade Brasileira de Genética, 2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations
of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with ...