PubMed Health⌕ Search

Biomedical subjects

V Bocchini

Publications and source records attributed to V Bocchini.

At least 91 records · Page 5Linked to original sources
PubMed1979

Trisomy 6p22 leads to 6pter due to familial t(6;13)(p22;q34 or 33) translocation.

A newborn with a 46,XY,der(13),t(6;13)(p22;q34 or 33)pat karyotype, trisomic for the 6p22 leads to 6pter segment and, perhaps, monosomic for the 13q telomere, is reported. The balanced translocation is familial and was also encountered in the sister and paternal grandmother. The infant's phenotype was similar to that described in seven previously reported cases of partial trisomy 6p and further supports a partial trisomy 6p syndrome as proposed by Breuning et al.

Abnormalities, Multiple↗
PubMed1979

The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG).

The constitutional fragility of chromosome no. 12 in a female infant with unspecific clinical signs is described. RHG, GAG, and CBG methods were used to localize the fragile point. The breaks seem to be in 12q1.3, and always within an R band. A possible correlation between the phenotypic modifications and the chromosome variant is discussed.

Chromosome Aberrations↗
PubMed1979

A case of complete testicular feminisation and 47,XXY karyotype.

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

Adult↗
PubMed1975

Different molecular weight of the plasmatic erythropoietin compared with the renal and splenic erythropoietic factors in the rabbit.

The authors have studied the molecular weight of the erythropoietic factors present in the blood, in the kidney and in the spleen of the rabbit, by means of ultrafiltration experiments performed by using selective-permeability membranes. The erythropoietic factor present in the blood circulation shows a molecular weight of between 10,000 and 30,000. The factors detectable in the microsomal fraction of normal kidney, in the mitochondrial fraction of anaemic kidney and in the mitochondrial fraction of normal spleen show molecular weights of between 50,000 and 100,000. These data confirm the hypothesis already formulated regarding the renal origin of the splenic erythropoietic factor and the different nature of the renal erythropoietic factor compared with the plasmatic erythropoietin.

Anemia↗
PubMed1969

The nerve growth factor: purification as a 30,000-molecular-weight protein.

The nerve growth factor protein was purified over 100-fold from adult mouse salivary glands. The first step was a gel filtration on Sephadex G-100 at pH 7.5 of the aqueous gland extract. After gel filtration, most of the NGF activity was eluted in the 80,000-90,000-molecular-weight region (G-100 pool). The G-100 pool was dialyzed at pH 5.0 and fractionated by CM52 cellulose chromatography at pH 5.0. Recovery from CM52 cellulose columns was quantitative for protein and ranged 80-100 per cent for the nerve growth factor activity; the latter was almost completely carried by a protein which did not show any heterogeneity when examined by several analytical tests. The purified nerve growth factor showed an S(20,w) = 2.43, a D(20,w) = 7.30 and a 30,000 molecular weight. The over-all recovery was about 45 per cent.

Animals↗