Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 598-602 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The Angelman syndrome (AS) is caused by genetic abnormalities affecting the maternal copy of chromosome region 15q12. Until recently, the molecular diagnosis of AS relied on the detection of either a deletion at 15q11–13, a paternal uniparental disomy (UPD) for chromosome 15 or imprinting mutations. A fourth class of genetic defects underlying AS was recently described and consists of mutations of the UBE3A gene. The vast majority of mutations reported so far are predicted to cause major disruptions at the protein level. It is unclear whether mutations with less drastic consequences for the gene product could lead to milder forms of AS. We report on our results obtained by screening 101 clinically diagnosed AS patients for mutations in the UBE3A gene. Non-stringent clinical criteria were purposely applied for inclusion of AS patients in this study. The mutation search was carried out by single-strand conformation polymorphism (SSCP), and SSCP/restriction fragment length polymorphism (RFLP) analyses and revealed five novel UBE3A gene mutations as well as three different polymorphisms. All five mutations were detected in patients with typical features of AS and are predicted to cause frameshifts in four cases and the substitution of a highly conserved residue in the fifth. The results we obtained add to the as yet limited number of reports concerning UBE3A gene mutations. Important aspects that emerge from the data available to date is that the four classes of genetic defects known to underlie AS do not appear to cover all cases. The genetic defect underlying approximately 10% of AS cases, including some familial cases, remains unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900197
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Maternal uniparental disomy 7 – review and further delineation of the phenotype (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 247-256 
    Details
    ISSN: 1432-1076
    Keywords: Key words Heterodisomy ; Isodisomy ; Maternal uniparental disomy 7 ; Mosaicism ; Silver-Russell syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings of all 32 cases. We found a phenotype characterized by pre- and postnatal growth retardation, occipitofrontal head circumference in the lower normal range, a triangular face, and retarded bone maturation. Findings of the facial gestalt included a high and broad forehead and a pointed chin. A broad mouth with down-turned corners, prominent ears, café-au-lait spots, hemihypotrophy, or clinodactyly were rarely present. Psychomotor development was delayed in 6 cases. The clinical findings strikingly resemble the phenotype of the heterogeneous Silver-Russell syndrome (SRS). Other anomalies were less frequently found than in SRS. Molecular investigations revealed 11 cases with isodisomy and 17 cases with heterodisomy. In 4 cases this information was not available. From the allelic distribution of the microsatellites investigated, 9 cases might be the consequence of an error at maternal meiosis I, and 6 cases might be due to non-disjunction at maternal meiosis II. Three of the 17 heterodisomic cases had trisomy 7 in chorionic villi, in the remaining cases no prenatal diagnosis through chorionic villus sampling was reported. Conclusion Maternal UPD 7 should be investigated in children with pre- and postnatal growth retardation and a facial gestalt characterized by a high and broad forehead and a pointed chin, as well as in confined placental mosaicism for trisomy 7.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050064
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Towards a unified theory for HIV/AIDS counselling (1991)
    Springer
    International journal for the advancement of counselling 14 (1991), S. 129-139 
    Details
    ISSN: 1573-3246
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract The paper explores the introduction of an unified theory for HIV/AIDS counselling. To date the provision of HIV/AIDS counselling has been largely based upon the behavioural theory of counselling. This theory has been adopted by WHO/GPA and its main aims have been the prevention of HIV infection and the psychosocial support for those already infected. It is argued that future counselling interventions should be redirected from a disease-centred approach to a person centred approach. This redirection can be facilitated by the adoption of the self concept as the central measure for evaluating change. It is argued that various ideas should be selected from the behavioural, psychoanalytical and humanistic theories of counselling. These ideas should be amalgamated into a unified theory which provides the theoretical foundation upon which a comprehensive counselling intervention can be based.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00117732
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    The evaluation of a unified theory for HIV/AIDS counselling (1993)
    Springer
    International journal for the advancement of counselling 16 (1993), S. 269-280 
    Details
    ISSN: 1573-3246
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract This paper evaluates a unified theory for HIV/AIDS counselling. The evaluation was based upon the hypothesis that if the theory was valid it would generate therapeutic outcomes. The theory was operationalised and evaluated in the context of group counselling. The group counselling sessions were video recorded and the tapes were viewed by a research team. Details of the counselling were recorded through the process of triangulation. The therapeutic outcomes were stated and confirmed with the group members through the process of respondent validation. In conclusion the hypothesis was accepted and the unified theory does offer an appropriate foundation upon which HIV/AIDS counselling can be based.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01407912
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...