• Publications
  • Influence
A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes.
TLDR
Results of hybridization of small cDNA probes for the human genes for motilin, thymidylate synthetase, and lymphocyte activation-3 are provided as examples of the high-resolution mapping obtainable with this technique. Expand
Phenotypic variability in isodicentric Y patients: study of nine cases
TLDR
Analyses of gonadal tissues from the individual with sexual ambiguity and of three of the five female patients gave results concordant with their phenotype, allowing us to better understand the sexual differentiation of these patients. Expand
Genes occupy a fixed and symmetrical position on sister chromatids
TLDR
The results indicate that the last stages of chromosome condensation occur by packing down the coils without further coiling, suggesting an opposite helical-handedness conformation of DNA on both chromatids with a mirror symmetry and support the model of chromosome packaging recently proposed by Boy de la Tour and Laemmli. Expand
Familial deletion 18p syndrome: case report
TLDR
Genetic counseling for patients with deletion 18p should take into account a greater range of cognitive outcome than previously reported, and an exclusive maternal transmission is observed throughout those families. Expand
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.
TLDR
Three cases with an interstitial deletion of the long arm of chromosome 14 suggest that the region 14q22 is important for eye and pituitary development, and the human BMP-4 gene, a member of the TGF-beta superfamily, maps to 14q 22-q23 and may play a role in pituitsary and eye development. Expand
Role of oxidative stress, mitochondrial membrane potential, and calcium homeostasis in human lymphocyte death induced by nickel carbonate hydroxide in vitro
TLDR
The mechanism of NiCH (soluble form)-induced activation of lymphocyte death signalling pathways involves not only the excess generation of different types of oxidative stress, but also the induction of alteration in ΔΨm and destabilization of cellular calcium homeostasis as well. Expand
Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes
TLDR
The study indicates that the Y chromosome contains sequences that are more prone to formation of isodicentric chromosomes and demonstrates that patients with an intercentromeric distance greater than 20 Mb on their idic(Y) are at increased risk of having a female sexual phenotype. Expand
High-resolution R-banding at the 1250-band level. 1. Technical considerations on cell synchronization and R-banding (RHG and RBG).
TLDR
Optimal conditions for the incorporation of BrdU and the FPG method produced excellent band separation and band contrast even in very elongated prophase chromosomes, which did not decrease the mitotic index, increase chromosomal damage significantly, and did not greatly vary from subject to subject nor with the age of the slide. Expand
Role of oxidative stress and intracellular calcium in nickel carbonate hydroxide-induced sister-chromatid exchange, and alterations in replication index and mitotic index in cultured human peripheral
TLDR
Overall these data indicate that various types of oxidative stress including iron-mediated oxidative stress involving the Fenton–Haber/Weiss reaction, and alterations in calcium homeostasis are involved in the genetic damage produced by the soluble form of NiCH. Expand
Role of oxidative stress, mitochondrial membrane potential, and calcium homeostasis in nickel sulfate-induced human lymphocyte death in vitro.
TLDR
The mechanism of NiSO4-induced activation of lymphocyte death signalling pathways involves not only the excess generation of different types of oxidative stress but also NiSO3-induced loss of mitochondrial membrane potential and destabilization of cellular calcium homeostasis as well. Expand
...
1
2
3
4
5
...