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E Calzolari

Publications and source records attributed to E Calzolari.

At least 73 records · Page 4Linked to original sources
PubMed1992

Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta.

The human phosphatidylinositol (PI) 3-kinase p85 alpha subunit gene and its homologue p85 beta were assigned to human chromosomes by analysis of their segregation in a panel of somatic cell hybrids using human-specific polymerase chain reaction primers. The p85 alpha locus was only present in hybrids retaining the human chromosome 5q. The presence of the p85 beta locus coincided with the presence of chromosome 19. The precise chromosomal sublocalization of these two genes was then determined by in situ hybridization. We confirmed the localization of the p85 alpha gene at 5q12-q13, as recently described (Cannizzaro, L.A., Skolnik, E.Y., Margolis, B., Croce, C.M., Schlesinger, J. & Huebner, K. (1991). Cancer Res., 51, 3818-3820) and positioned the p85 beta locus at 19q13.2-q13.4.

Base Sequence↗
PubMed1991

Characterization of the pseudogenic and genic homologous regions of von Willebrand factor.

The homologous pseudogenic and genic regions of von Willebrand factor (vWF) were studied in DNA from a patient with homozygous deletion of vWF genes and compared with a normal control. This analysis indicates informative restriction patterns for the investigation of restriction fragment length polymorphisms (RFLPs) and gene lesions, and for molecular cloning. A useful new genic XbaI RFLP was found and characterized. A large BgIII fragment of the pseudogenic region was cloned and mapped, and single sequences (9 kb) were used as probes. Corresponding genic and pseudogenic fragments, which contain exons 23-28, and specific restriction patterns were identified, including a new polymorphic TaqI site that was mapped in the gene. A cloned fragment contains the 5' boundary of the pseudogene and recognizes an additional and unknown homologous sequence in the genome. The chromosomal localization of the vWF pseudogene and of the breakpoint cluster region (BCR) gene were compared by 'in situ' hybridization: overlapping patterns were detected. The cloning, characterization and mapping of the pseudogenic region improves the analysis of this portion of chromosome 22 affected by several somatic and constitutional alterations, and also of the corresponding genic region on chromosome 12.

Base Sequence↗
PubMed1991

[Comparison of cytology and ELISA in the research on cervical Chlamydia infection].

Papanicolaou smears from 100 woman with ELISA Chlamydia-positive (42) and negative (58) endocervical smears were examined. Chlamydial endocellular inclusions were found in 3 ELISA positive and 2 negative smears, with an evident low sensitivity (7%) of cytology in the diagnosis of the endocervical infection. Furthermore, by statistical analysis it is clear that a negative test doesn't add anything to the pre-test probability (prevalence) of the infection. On the other hand a positive pap-smear adds a poor information, if compared with immunoenzimathic assay and IF staining. Thus, the Papanicolaou smear can't be considered of diagnostic value for Chlamydial infection. Furthermore, it proves unsuitable even for screening programs on high-risk patients, concerning which the immunoenzymatic assay appears, as previously affirmed, the most suitable effort.

Chlamydia Infections↗
PubMed1990

Neonatal growth patterns in a population of consecutively born Down syndrome children.

Percentile charts of neonatal length, weight, head circumference, and weight/length squared have been constructed using data based on 688 consecutive newborn infants with Down Syndrome and 6,890 normal newborn infants (control group) registered in the congenital malformation registers of North-East Italy and the Emilia-Romagna Region. All percentiles of growth variables are lower in Down syndrome than in the control infants, except for the weight/length2 percentiles, suggesting that growth in Down syndrome is prenatally reduced; overweight begins after birth.

Body Height↗
PubMed1990

Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births.

Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173,109 consecutive births had LRD (4.8 per 10,000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all cases, 64% were upper limb, 21% lower limb, and 15% both. Coexisting non-limb malformations were found in 10 cases (12%), five with recognised syndromes and five with other associated defects. About 7.2% of first degree relatives had defects involving the skeletal system. In two cases the mother had the same type of LRD (a split). No recurrence among sibs was observed. Risk factors correlated with LRD were found to be low birth weight (2500 g or less), vaginal bleeding, and threatened abortion.

Consanguinity↗
PubMed1989

Inferences on the inheritance of congenital anomalies from temporal and spatial patterns of occurrence.

Most congenital anomalies are believed to result from interactions between genetic and environmental determinants, whose relative importance is not generally established. Temporal and spatial patterns allow inferences on the underlying transmission processes; in particular, it is possible to discriminate between sporadic and nonsporadic genetic factors, and to find evidence for the effects of environmental heterogeneity in time and space. We studied the occurrence of 14 anomalies in 14 registries of Western Europe. Four basic patterns have been identified: (1) Chromosomal abnormalities have uniform incidences and do not show significant geographical variation, in agreement with the expected consequences of randomly scattered nondisjunction events. (2) The homogeneous spatial distributions of three severe malformations (renal agenesis, oesophageal atresia, ano-rectal atresia) are consistent with both the effects of fresh mutation and segregation of detrimental alleles. (3) A decrease of similarity of incidences with distance has been observed for neural tube defects, and this is the expected consequence of isolation by distance on genetically determined traits. (4) For facial clefts, polydactyly, and hypospadias, all postulated processes poorly account for the observed temporal and spatial patterns.

Adult↗
PubMed1989

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.

Child, Preschool↗
PubMed1988

Epidemiological and genetic study of 200 cases of oral cleft in the Emilia Romagna region of northern Italy.

Epidemiological and genetic variables in clefts were analyzed during the years 1978-1986 in a case-control study of congenital malformations in the Emilia Romagna region of northern Italy. Among 150,168 newborns, 200 cases of cleft were detected, yielding a prevalence of 1.33 per 1,000. These clefts consisted of 112 (0.075%) cases of cleft lip with or without cleft palate (CL +/- P) and 88 cases (0.058%) of cleft palate (CP). Coexisting abnormalities were found in 32% of cases. The heritability coefficient of CL +/- P was 0.84. No cluster in time or space could be demonstrated. Epilepsy was the only maternal risk factor found to be correlated with clefts. A predominance of males was found among CL +/- P cases.

Cleft Lip↗
PubMed1987

Congenital malformations in 100,000 consecutive births in Emilia Romagna region, northern Italy: comparison with the EUROCAT data.

A population based Congenital Malformations Registry has been established in the Emilia Romagna region of northern Italy. From the 1st of January 1978 to the end of 1984, 103,484 births were monitored, and 1914 babies with one or more congenital abnormalities were registered producing a rate of 1.85 per cent. The total number of malformations registered was 2,412 (2.3%). The rates of selected groups of malformations (isolated and in association with other defects) are presented and compared with rates derived from the EUROCAT study.

Abnormalities, Multiple↗
PubMed1987

De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.

Chromosome Banding↗
PubMed1987

Clinical anophthalmos in a family.

Monolateral or bilateral anophthalmos recurring in the absence of other associated defects in six members of a family is reported. The malformation appears to be inherited as a dominant (autosomal or X-linked) trait with incomplete penetrance. Implications for genetic counselling are briefly discussed.

Adolescent↗