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E Pizzi

Publications and source records attributed to E Pizzi.

31 records · Page 2Linked to original sources

Conservation and divergence of repeated structures in Plasmodium genomes: the molecular drift.

The rapid divergence of tandemly repeated families among Plasmodium species is in striking contrast with the extraordinary fidelity of the repeat copies present in a given genome. Close examination of the arrays of tandem repeats reveals an unsuspected regularity in the distribution of base substitutions, and clear relations between sets of repeats of different length, often coexisting in the same repeated region. The regular distribution of defects in the linear lattice gives rise to a hierarchy of periodicities. A model is proposed which accounts simultaneously for the rapid and concerted evolution of the repeats, and for the generation of supra-periodicities. The implications of this model with respect to repeated-pattern evolution are discussed.

Animals↗

Detection of latent sequence periodicities.

A method is proposed for the automatic detection of serial periodicities in a linear sequence. Its application to DNA subtelomeric sequences from two lower eukaryotes, P.falciparum and S.cerevisiae, reveals ordered patterns organised in hierarchical periodicities, not easily recognizable by other methods. The possible implications concerning the evolution of tandemly repetitive arrays are discussed in light of a model which involves, as successive steps, random repeat modification, the fusion of differently modified repeat versions into longer units, and the amplification of (and/or homogenization to) the more recent repeat units.

Algorithms↗

[Aarskog syndrome. Description of a case with significant anomalies of the gonads].

The Aarskog syndrome is characterized by short stature, hypertelorism, cryptorchidism, typical scrotal fold, clinodactyly and brachydactyly. From the available data the prognosis about definitive stature and fertility is good. In our case the anomalies of the testis are severe and we think that infertility is probable.

Abnormalities, Multiple↗

[Spondylo-epiphyseal dysplasia. Description of a family].

The authors describe a family, father and two sisters, suffering from spondylo-epiphyseal dysplasia. The disease is an autosomal dominant; genetic counseling depends on an exact diagnosis. The two sisters show some atypical features, which confirm the disease heterogeneity.

Adult↗

[Recurrent meningitis. Description of a case in a girl with dermal sinus].

The authors describe a case of recurrent meningitis in a child with a dermal sinus. All the conditions causing this severe pathology are considered, particularly those in the pediatric age. The surgical treatment of the congenital malformation gave a complete resolution of the recurrent infections.

Anti-Bacterial Agents↗