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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
TLDR
The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene. Expand
The ACTN3 genotype in soccer players in response to acute eccentric training
TLDR
It is concluded that professional soccer athletes homozygous to ACTN3XX gene are more susceptible to eccentric damage and present a higher catabolic state, demonstrated by metabolic, hormonal and immune responses post an eccentric training, in comparison to ACTn3RR andACTN3RX groups. Expand
DGAT1 K232A polymorphism in Brazilian cattle breeds.
TLDR
The results could be used to guide association studies between this locus and milk traits in these breeds and to estimate the frequency of the DGAT1 K232A polymorphism in the main Zebu and Taurine breeds in Brazil as a potential QTL for marker-assisted selection. Expand
Genetic polymorphism of the kappa-casein gene in Brazilian cattle.
TLDR
A wide variation in the B allele frequency among B. indicus breeds was found suggesting that molecular selection for animals carrying the A allele could impact breeding programs for dairy production. Expand
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
TLDR
The gene termed SRPX (sushi-repeat-containing protein, x chromosome) is deleted in an RP patient who also suffers from chronic granulomatous disease and McLeod syndrome and the role of this highly conserved retinal gene in the pathogenesis of RP remains to be determined. Expand
Genetic basis and inbreeding in the Brazilian Guzerat (Bos indicus) subpopulation selected for milk production
TLDR
The reduced effective population size and effective number of ancestors indicate a risk of an increase in the inbreeding coefficient and genetic drift and consequent loss of variability in the Guzerat population. Expand
Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome
TLDR
This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS, and designed a new method based on hemi‐nested PCR to obtain DNA amplification from paraffin‐embedded tissues. Expand
Logistic regression analysis of pregnancy rate following transfer of Bos indicus embryos into Bos indicus x Bos taurus heifers.
TLDR
High pregnancy rates occurred when transfers occurred in autumn, early blastocysts or morulae were transferred, and excellent quality embryos were chosen, and pregnancy rates were highest when estrus in the recipient began 1 d earlier than that of the donor. Expand
The time has come: a new scene for PKU treatment.
TLDR
This study evaluated several new therapeutic options for phenylalanine-restricted PKU in terms of theoretical basis, methodologies, efficacy, and costs. Expand
Variations in genotype-phenotype correlations in phenylketonuria patients.
TLDR
The genotype was observed to be a good predictor of the clinical course of the patients and significant correlations were found between phenylalanine values at first interview and predicted residual activity, genotype and arbitrary value sum. Expand
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