1,324 research outputs found
Ingrid Ylva och tornet i Bjälbo
No full textThe article discusses the background to the erection of the huge church tower in Bjälbo, Östergötland, Sweden. It also focuses on medieval women as founders of churches. The author maintains that new dendrochronological dating of the tower could mean that founder of this building piece was not one of the male members of the important Bjälbo dynasty, but Ingrid Ylva the mother of Birger Jarl
Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin
No full textLarge-scale copy number variation that is cytogenetically visible in normal individuals has been described as euchromatic variation but needs to be distinguished from pathogenic euchromatic deletion or duplication. Here, we report eight patients (three families and two individuals) with interstitial deletions of 9q13-q21.12. Fluorescence in situ hybridisation with a large panel of BACs showed that all the deleted clones were from extensive tracts of segmentally duplicated euchromatin, copies of which map to both the long and short arms of chromosome 9. The variety of reasons for which these patients were ascertained, and the phenotypically normal parents, indicates that this is a novel euchromatic variant with no phenotypic effect. Further, four patients with classical euchromatic variants of 9q12/qh or 9p12 were also shown to have duplications or triplications of this segmentally duplicated material common to both 9p and 9q. The cytogenetic boundaries between the segmentally duplicated regions and flanking unique sequences were mapped to 9p13.1 in the short arm (BAC RP11-402N8 at 38.7 Mb) and to 9q21.12 in the long arm (BAC RP11-88I18 at 70.3 Mb). The BACs identified in this study should in future make it possible to differentiate between clinically significant deletions or duplications and euchromatic variants with no established phenotypic consequence
Ingrid Winterbach: Novelist (Interview)
No full textWinner of the prestigious Hertzog Prize for Literature for Niggie (2002)Ingrid Winterbach is the author of eight novels, three of which have been translated into English and two into Dutch. The translation of her fourth novel, Karolina Ferreira (1993) as The Elusive Moth (2005), and subsequently, Niggie as To Hell with Cronjé (2007) and Die boek van toeval en toeverlaat (2006) as The Book of Happenstance (2008), have brought this author to the attention of a wider South African readership
7. When They Left
No full textFigure 7.1 The author, Ingrid Griffith (right) with her sister Dawn (left) and brother Oliver (center) in December 1968. Their maternal grandmother had taken them to Skevelair’s Photo Studio in Georgetown, Guyana to pose in the church outfits their parents, who had recently migrated to the United States, had sent for Christmas. © Griffith Family Collection. Courtesy of Ingrid Griffith. CC BY 4.0. It was one of the worst days of my life. I was seven years old, my sist..
270 - Ingrid Jane Slette
No full textGlobal climate change is causing more extreme droughts, as well as subtler chronic changes in precipitation patterns. Both chronic and extreme precipitation change can alter ecosystem structure and function, and these alterations may affect how systems respond to future extreme climatic events. Understanding how legacies of various past precipitation changes may alter the effects of future extreme droughts will be important for predicting ecosystem responses to climate change. We investigated how ecological legacies of experimentally-imposed chronic and extreme precipitation changes altered the impact of an extreme drought on an economically-important grassland ecosystem.Top Scholars for University-Wide Graduate Programs
The search for tourette syndrome genes : a conceptual and experimental approach
No full textDissertation (PhD) -- University of Stellenbosch, 1999.ENGLISH SUMMARY: Tourette syndrome has been reported in most populations throughout the world.
Overall, there appears to be similar clinical phenomenology and psychopathology,
which may serve as an indication of the biological nature for the condition.
The diagnosis of Tourette syndrome represents a challenge for physicians because of
clinical heterogeneity and often-present comorbidity with other known
neurobehavioural conditions. Due to these clinical overlaps Tourette syndrome may
serve as a model disorder for investigating the relationship between various
neurological and behavioral domains of childhood reflecting either the expression of a
common biological pathway or a common genetic background. The understanding of
the genetic basis of Tourette syndrome is therefore of special importance, because it
may provide useful insights for the study of other developmental disorders. However,
the lack of objective biological markers of clinical manifestation together with a
possible high phenocopy rate, unclear mode of inheritance, incomplete penetrance,
and frequent bilinear transmission of predisposing genes represent major obstacles for
those attempting to elucidate the genetic basis of Tourette syndrome.
The research presented in this document is a result of six years' effort of the author
and her collaborators to generate cytogenetic and molecular genetic data contributing
to a better understanding of genetic and environmental factors affecting the
phenotypic expression of Tourette syndrome. Theoretical and experimental results of
this collaborative effort are assembled in seven articles (four published, three
currently submitted for a publication) and a general introductory section relating to
the problems, methods and methodology described and utilized in data collection for
the individual papers.
Taken as a whole, while the study of chromosome fragile site expression in Tourette
syndrome probands yielded equivocal results leading to a number of rather speculative but interesting interpretations, the results of subsequent molecular genetic
studies are far clearer.
The three most valuable outcomes of these studies for future genetic investigations in
Tourette syndrome gene-mapping efforts in the Afrikaner population, and complex
genetic traits in general, are:
I. The evidence for association/linkage of at least three genomic regions with
Tourette syndrome in the Afrikaner population, with two of the regions (11q23
and 8q22) being suggestively linked to Tourette syndrome by others in different
populations and employing different analytical methods.
2. The evidence for extended background linkage disequilibrium in the general
Afrikaner population (> 5 cM) which further strengthens existing experimental
data demonstrating the suitability of this population for gene-mapping efforts
involving complex traits.
3. The proof based on real rather than computer-simulated data that sequential and
semiparametric methods of analysis could be sufficiently powerful to generate
cumulative evidence for positive linkage with the trait in the regions which
repeatedly yielded both highly significant as well as suggestively significant
disease-marker associations in the initial set of samples.AFRIKAANSE OPSOMMING: Tourettesindroom is 'n algemene oorerflike neurobiologiese probleem wat in verskeie
bevolkingsgroepe vanoor die wereld beskryf is. As gevolg van identiese
fenomenologie en psigopatologie ten spyte van omgewingsverskille, is dit aanduidend
van 'n sterk biologiese grondslag vir die toe stand.
Die teenwoordigheid van kliniese meersoortigheid en die verhoogde voorkoms van 'n
verskeidenheid komorbiede probleme by 'n subgroep van individue met
Tourettesindroom, veroorsaak dikwels probleme met die akkurate identifisering
hiervan. Dit skep egter ook geleenthede vir die bestudering by kinders, van verskeie
neurologiese en gedragsmanifestasies gebaseer op 'n gemene genetiese substraat.
Insig in die genetiese-omgewings wisselwerking by Tourettesindroom baan dus die
weg vir begrip van ander ontwikkelingsprobleme wat ook by kinders aangetref word.
Die afwesigheid van 'n betroubare biologiese merker of merkers vir hierdie kliniese
entiteit, die algemene voorkoms van fenokopiee, komplekse oorerwingspatroon,
onvolledige penetrasie en algemene verskynsel van oorerwing vanaf beide ouers,
verteenwoordig 'n aantal formidabele struikelblokke ten opsigte van die analise van
die genetiese basis van Tourettesindroom.
TS word as een van die komplekse oorerflike toestande beskou, wat beteken dat daar
duidelike oorerflike faktore by betrokke is, maar dat die oorerwing nie-mendelies van
aard is. Die gebruiklike reduksionistiese benaderings wat so suksesvol was vir die
analise van die enkelgeentoestande, werk nie meer onder hierdie omstandighedenie,
en vir die rede word verskeie nie-parametriese of semiparametriese modelle ingespan.
Die gedokumenteerde resultate verteenwoordig die navorsing uitgevoer tesame met
plaaslike en oorsese medewerkers op hierdie gebied gedurende die laaste ses jaar. Die
teoretiese en eksperimentele resultate word weergegee in sewe publikasies.
Hiertydens is sitogenetiese en molekulere gegewens versamel in 'n poging om die
genetiese en omgewingsfaktore onderliggend tot die ekspressie van Tourettesindroom te bepaal. Die teoretiese en eksperimentele resultate van hierdie poging word
weergegee in sewe publikasies, waarvan vier reeds gepubliseer is, en 'n algemene
inleidende afdeling wat die probleme en metodes bespreek soos tydens die
versameling en analise van die data ervaar is.
Die resultate word in twee afdelings aangebied: eerstens is daar die teoretisering ten
opsigte van die bevinding van chromosomale breekbaarheid, wat aangedui is om
verhoog te wees in die Tourette groep. Die betekenis van hierdie bevinding is tans
nog onduidelik, en as gevolg van resolusieverskille nie direk met die DNA bevindings
korreleerbaar nie. Hierdie merkerareas moet egter deurgaans in gedagte gehou word
as moontlik aanwysend van die ligging van kandidaatgene vir Tourettesindroom.
Die belangrikste gedeelte behandel egter die benadering tot die totale genoomsifiing,
sowel as die veilgheidsmaatreels ingebou deur die heranalise van verskeie subgroepe
en gevolglike replisering van resultate.
Die mees waardevolle implikasies van hierdie navorsing ten opsigte van die
uitstippeling van die pad vorentoe vir Tourettesindroom geenkartering by die
Afrikaner, en komplekse oorerflike toestande in die algemeen, sluit die volgende in:
1. Die bewyse gevind vir die bevestiging van 3 genomiese streke soos
oorspronklik deur die eerste fase assosiasiestudies aangetoon by die
manifestering van Tourettesindroom in die Afrikaner, en waar ten minste twee
van die gebiede (11q23 en 8q22) ook deur ander navorsers in ander
bevolkingsgroepe met hierdie toestand gekoppel is;
2. Die kwantifisering van die stand van koppelings-disekwilibrium by 'n aantal
lokusse in die Afrikaner genepoel van < 5cM. Hierdie gegewens versterk die
gedagtes met betrekking tot die geskiktheid van hierdie bevolkingsgroep vir
geenkarteringspogings vir komplekse toestande;
3. Die bewys, gebaseer op reele in stede van gemodelleerde data, dat
opeenvolgende, semiparametriese analisemetodes oor voldoende statistiese
krag beskik om kumulatiewe getuienis te verskaf vir positiewe koppeling van
TS met streke wat ook in die oorspronkilke siektemerker assosiasiestudies
betekenisvolle resultate gelewer het.Doctora
Funktionelle Analyse von potententiell aktivierenden FGFR3 Mutationen
No full textAuthor Ingrid Hartl, MScAbweichender Titel laut Übersetzung der Verfasserin/des VerfassersDissertation Johannes Kepler Universität Linz 2022Arbeit nach Ablauf der Sperre auf den öffentlichen PCs in den Bibliotheken der JKU+Medizin abrufba
Resensies: Vlam in die sneeu. Die liefdesbriewe van André P. Brink en Ingrid Jonker
No full textBook Title: Vlam in die sneeu. Die liefdesbriewe van André P. Brink en Ingrid JonkerBook Author: Francis Galloway (red.)Kaapstad: Umuzi, 2015. 450 pp. ISBN: 978-1-4152-0881-6. Spesiale uitgawe ISBN: 978-1-4152-0893-9
Arboviral Disease Surveillance, Kansas, 2014
No full text"Report Author: Ingrid C. Garrison"--Page 18.;
"April 21, 2016.";
Includes bibliographical and internet references (page 12)."Arboviruses (arthropod-borne virus) are commonly spread to humans through the bites of infected mosquitoes, ticks, sand flies, or midges. This report focuses on those arboviruses transmitted by mosquitoes. West Nile virus is the leading cause of domestically acquired arboviral disease in the United States and Kansas.
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