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  • 1
    Electronic Resource
    Electronic Resource
    Erratum (1999)
    Springer
    Annales geophysicae 17 (1999), S. 437-437 
    Details
    ISSN: 0992-7689
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s00585-999-0437-2
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  • 2
    Electronic Resource
    Electronic Resource
    Biochemical composition of Nephrops norvegicus : changes associated with ovary maturation (1997)
    Springer
    Marine biology 129 (1997), S. 505-511 
    Details
    ISSN: 1432-1793
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Changes in the biochemical composition of the ovary of Nephrops norvegicus (L.) were examined throughout maturation at stations with fast and slow growing individuals in Scottish waters and in the Mediterranean. Ovary index (ovary wt:total body wt) increased significantly with maturation. Lipid, protein and water content of the ovary increased with maturation, while carbohydrate content decreased. Similar changes were also identified in the hepatopancreas. Significant spatial differences in ovary and hepatopancreas composition were identified, which may be related to whole-body growth rate. The ovary maturation scale commonly used for N. norvegicus was shown to reflect biochemically distinct stages in ovary development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002270050191
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  • 3
    Electronic Resource
    Electronic Resource
    Duplication of the short arm of the X chromosome in mother and daugther (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 395-400 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter→p22.3: :p22.3→ cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromerespecific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00217366
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  • 4
    Electronic Resource
    Electronic Resource
    Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 119-129 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Dicentrics are among the most common structural abnormalities of the human Y chromosome. Predicting the phenotypic consequences of different duplications and deletions of dicentric Y chromosomes is usually complicated by varying degrees of mosaicism (45,X cell lines), which may, in some cases, remain undetected. Molecular studies in patients with dicentric Y chromosomes have been few, and only two studies have attempted to determine the presence of SRY (the putative testis-determining factor gene). We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. Southern analysis using Y-specific probes (Y97, 2D6, 1F5, pY3.4) and polymerase chain reaction (PCR) analysis using primers for ZFY and SRY were positive for all loci tested, indicating that almost all of the Y chromosome was present. Our findings and an extensive review of the literature emphasize the importance of molecular analyses of abnormal Y chromosomes before any general conclusions can be reached concerning the relative effects of the Y-chromosome abnormality and mosaicism on sexual differentiation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00214200
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  • 5
    Electronic Resource
    Electronic Resource
    SRVX, a sex reversing locus in Xp21.2→p22.11 (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 389-393 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Duplication within Xp21 causes female or intersexual development in human embryos with an XY chromosome complement. We have mapped the responsible gene, SRVX (sex reversal X), in XY-sex-reversed maternal half siblings who had inherited the duplication from their mother. The limited size of the duplication in our cases, relative to its extent in other similar cases, allows assignment of the SRVX locus to Xp21.2→p22.11. We infer that SRVX is part of a pathway of sex-determining genes that includes SRY and SRA1, the latter recently assigned to chromosome 17q. If mutation of SRA1 or SRVX can reverse the sex of the XY fetus, this would explain why mutation within SRY is found only sporadically in women with XY gonadal dysgenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201663
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  • 6
    Electronic Resource
    Electronic Resource
    DNase hypersensitivity and methylation of the humanCD3G andD genes during T-cell development (1990)
    Springer
    Immunogenetics 31 (1990), S. 13-20 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mouse and humanCD3G andD genes are organized in opposite transcriptional orientation, their 5′ ends being separated by about 1.6 kilobases (kb) of DNA. The molecular basis of the tissue-specific regulation of expression of the humanCD3G andD genes was examined using DNase I hypersensitivity and CpG methylation analysis. Two T cell-specific DNase I hypersensitivity sites were defined within the intergenic region. A third hypersensitive site (DHS3) was detected 0.4 kb 3′ to theCD3D gene. This latter site was present in all T cells, but was absent in all other committed cell types examined. DHS3 was also detected in the lympho-myeloid progenitor cell KG1, but was absent when this line was induced to differentiate to the macrophage lineage. The intergenic region was undermethylated in T cells expressingCD3, but was in general more extensively methylated in other cell types. Importantly, however, in KG1 sublines which express theCD3 genes the intergenic region remains extensively methylated. These results define areas 3′ to theD gene and within the intergenic region which contain regulatory elements that influence bothCD3D andG expression. They further show that transcription form theCD3D andG genes may occur initially from a methylated promoter. Significantly, the 3′ regulatory region was shown to adopt an open chromatin structure prior to lineage commitment and beforeCD3 transcription.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702484
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  • 7
    Electronic Resource
    Electronic Resource
    A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 117-121 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to explain these results. Some of the findings could only be detected with fluorescence in situ hybridization, demonstrating the usefulness of this technique in characterizing chromosomal abnormalities that would otherwise be difficult to interpret correctly with classical cytogenetics alone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219677
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  • 8
    Electronic Resource
    Electronic Resource
    Pharmacokinetics of lofepramine in man: Relationship to inhibition of noradrenaline uptake (1976)
    Springer
    European journal of clinical pharmacology 9 (1976), S. 291-298 
    Details
    ISSN: 1432-1041
    Keywords: Tricyclic antidepresent ; lofepramine ; single- and multiple-dose kinetics ; noradrenaline and 5-hydroxytryptamine uptake ; man
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The pharmacokinetics of lofepramine, an imipramine analogue, have been studied by administering single oral doses to volunteers, determination of plasma levels of lofepramine and desmethylimipramine after ten days of oral administration to patients, and by relating plasma levels to the effect on uptake of noradrenaline by isolated rat irides and brain slices of plasma samples collected during treatment. The results indicate that lofepramine undergoes pronounced first pass elimination and that desmethylimipramine is a major metabolite of it. During steady-state conditions the plasma level of lofepramine fluctuates considerably between doses. A linear relation was found between inhibition of neuronal uptake of noradrenaline and the plasma concentration of desmethylimpramine. No effect was seen on the uptake of 5-hydroxytryptamine in brain slices incubated in patients' plasma which suggests that neither lofepramine nor its metabolites formedin vivo in man affect neuronal uptake of this amine. Lofepramine belongs to the group of tricyclic anti-depressants which preferentially inhibit noradrenaline uptake.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00561663
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  • 9
    Electronic Resource
    Electronic Resource
    Tyramine pressor effects in man before and during treatment with nortriptyline or ECT: Correlation between plasma level and effect of nortriptyline (1970)
    Springer
    European journal of clinical pharmacology 2 (1970), S. 72-78 
    Details
    ISSN: 1432-1041
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary Systolic pressor effects after i.v. injection of tyramine (TA) were recorded in 13 patients before and during treatment with nortriptyline (NT) in doses of 1.4–5 mg/kg/day for 3–4 weeks. After NT a several fold decrease in the responsiveness to TA occurred. Patients given the same dose of NT showed markedly different decreases in the responsiveness to TA. There was no correlation between the blockade of the TA pressor effects and the dose of NT employed but there was an excellent correlation between the blockade and the plasma level of NT (p〈0.001 and p〈0.005 respectively). TA pressor effects were not changed in a small control group of depressed patients after treatment with E.C.T. The relationship between kinetics and effects of tricyclic antidepressants is discussed. The steady-state plasma level of NT seems to be an important determinant of its effects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420709
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  • 10
    Electronic Resource
    Electronic Resource
    Biochemical effects of zimelidine in man (1980)
    Springer
    European journal of clinical pharmacology 18 (1980), S. 483-487 
    Details
    ISSN: 1432-1041
    Keywords: zimelidine ; norzimelidine ; depression ; serotonin ; noradrenaline ; dopamine ; neuronal uptake inhibition ; 5-HIAA ; cerebrospinal fluid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The novel drug zimelidine 50–300 mg/day was administered to 12 depressed patients. After about 3 weeks plasma levels of the demethyl metabolite, norzimelidine, were almost thrice those of the parent drug. During incubation of slices of rat brain cortex in plasma from the treated patients, the neuronal uptake of serotonin and noradrenaline was 51.7±10.2 and 82.8±9.6%, respectively, of the control values. The uptake inhibition both of serotonin and noradrenaline was correlated with the plasma level of norzimelidine (r=0.62 and 0.63, respectively). The major central metabolites of serotonin (5-HIAA) and noradrenaline (HMPG) in cerebrospinal fluid (CSF) decreased significantly (29 and 11%, respectively) during treatment with zimelidine. Although there was no mean change in the major dopamine metabolite (HVA) in CSF, the level during treatment (as percentage of the pretreatment level) was correlated with the effect on 5-HIAA in CSF. Thus, administration of zimelidine caused a relatively selective inhibition of serotonin uptake, mainly due to norzimelidine. A small but significant inhibition of noradrenaline uptake was also seen, but this effect was less pronounced than during chlorimipramine treatment. There was also an effect on the dopaminergic system, probably secondary to the action on serotonergic neurons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00874660
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