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  • 1
    Keywords: RECEPTOR ; EXPRESSION ; screening ; GENE ; GENES ; PROTEIN ; FAMILY ; ASSOCIATION ; chromosome ; polymorphism ; SUSCEPTIBILITY ; VARIANTS ; IDENTIFICATION ; PROMOTER ; family history ; MUTATION ; REGION ; LINKAGE DISEQUILIBRIUM ; MUTATIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; DIABETES-MELLITUS ; ADHESION MOLECULE ; CANDIDATE GENES ; autism ; LOCUS ; brain development ; mutation screening ; TRAITS ; transmission disequilibrium
    Abstract: Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility
    Type of Publication: Journal article published
    PubMed ID: 15523497
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  • 2
    Abstract: The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself.
    Type of Publication: Journal article published
    PubMed ID: 20711649
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  • 3
    ISSN: 1432-069X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In zwei. Fällen von Angiokeratoma corporis diffusum wurde die Haut elektronenmikroskopisch untersucht. Im einen Falle stand mit Formol fixiertes Material (Sektion) zur Verfügung; im zweiten Falle konnte adäquat fixiertes Biopsiematerial zur elektronenmikroskopischen Untersuchung benutzt werden. In dem mit Formol fixierten einer Obduktion entnommenen Material wurden in Endothelzellen und Fibrocyten hauptsächlich osmiophile Körperchen gefunden, die als Typ 1 und 2 beschrieben wurden. In dem für Elektronenmikroskopie adäquat fixierten Biopsiematerial überwogen dagegen aus parallellisierten Lamellen aufgebaute osmiophile Körperchen (Typ 3), welche oft ein schwach elektronendichtes homogenes bzw. feinkörniges Zentrum umschlossen (Typ 3). Die osmiophilen Lamellen zeigten hier eine Dicke von 26 Å, die osmiophobe eine Dicke von 36 Å, was eine Periodizität von 62 Å bedeutet. Die Möglichkeit, daß die osmiophilen Lamellenkörperchen (Typ 3) als charakteristisch für Angiokeratoma corporis diffusum zu betrachten sind, wurde erwogen. Das Vorwiegen von osmiophilen Körperchen vom Typ 1 und 2 beim formolfixierten autoptischen Material läßt vermuten, daß hier die weniger günstigen Verhältnisse (Fixierung in nichtisotonischem, nichtgepuffertem Formol, Autolyse!) zu dem in den Vordergrund treten dieser Type beigetragen haben.
    Notes: Summary Electron microscopic findings in the skin in two cases of angiokeratoma corporis diffusum (males 41 and 38 years of age resp.) are presented. In one of these cases only formol fixed autopsy material was available; in the other case in respect of electron microscopy adequately fixed biopsy material was used. In the formol fixed autopsy material, more especially in endothelial cells and fibrocytes, chiefly osmiophilic granules were observed, which were indicated as type 1 and 2. In the adequately fixed biopsy material of the second patient mainly osmiophilic granules of a lamellar type (type 3) were seen. The latter consisted of lamellar systems with tightly concentrically arranged alternating dense and light lines. The thickness of the osmiophilic lines was 26 Å, of the osmiophobic ones 36 Å, which means a periodicity of 62 Å. The lamellar system often enclosed a granular or homogenous electron-opaque centre. They showed a close resemblance to lamellar osmiophilic granules demonstrated in Tay-Sachs disease, but differed from those by a number of ultra-structural details. The question, whether type 3 osmiophilic bodies can be considered as specific for angiokeratoma corporis diffusum is discussed. In addition attention is drawn to the marked predominence of osmiophilic granules of the types 1 and 2 in the formol fixed autopsy material. Unfavourable conditions (unsuitable formol fixation, autolysis) may have been partly responsible for this phenomenon.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1574-6941
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Nitrate-metabolising bacteria were isolated from estuarine sediment in carbon-limited anaerobic chemostats with nitrate as the only electron acceptor, at constant low temperature (5°C), constant high temperature (20°C), or square wave temperature cycle (5–20°C over 24 h). The steady-state communities isolated were sampled randomly, and isolates identified. At constant 20°C and under cycling temperature the communities were dominated by bacteria with obligately fermentative metabolism; Klebsiella spp. at 20°C and Enterobacter spp. in cycling temperature, which were nitrate-ammonifiers. The dominant isolates at 5°C were bacteria with the capacity for oxidative, respiratory metabolism, which were able to denitrify. The physiologies of representative isolates of these two distinct high and low temperature communities were examined further. An Arrhenius plot for growth of the 20°C isolate A1 (Klebsiella oxytoca) increased linearly from 10°C up to the optimum at 28°C, but decreased above the optimum and at temperatures 〈10°C. A1 was unable to grow at 5°C. The unidentifiable 5°C isolate (E3) was capable of both fermentative and oxidative metabolism, but when respiring nitrate the Arrhenius plot for growth was linear between 3–18°C with an optimum at 19°C. A cross-over in μmax of these two isolates occurred at about 23°C. The ability of each bacterium to scavenge nitrate was examined in anaerobic nitrate-limited chemostats, measuring the specific affinity (aA) of each bacterium for nitrate at different temperatures. Specific affinity for nitrate increased with temperature in both bacteria, indicating an improved ability to sequester nitrate at higher temperatures. Isolate A1 had a higher aA for nitrate than E3 at 20°C, but E3 had a higher aA at low temperature. A crossover in the specific affinities of these two bacteria occurred between 5 and 20°C, so that A1 was better able to sequester nitrate at high temperature while E3 was more effective in sequestering nitrate at lower temperature. We propose that at low temperature denitrifying bacteria predominate in estuarine sediments as they are selected by their improved ability to scavenge limited concentrations of nitrate at low temperature, whereas fermentative nitrate-ammonifiers are better competitors for nitrate at the higher summer temperatures. Seasonal changes in environmental temperature therefore result in seasonal selection of different nitrate-utilising communities.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: We present a new method of tailoring the density of a sphere for use as a probe in high pressure-temperature physical property experiments on liquids. The method consists of a composite sphere made of an inner, high density, metallic, spherical core and an exterior, low density, refractory, spherical shell or mantle. Micromechanical techniques are used to fabricate the composite sphere. We describe a relatively simple mechanical device that can grind hemispherical recesses as small as 200 μm in diameter in sapphire and as small as 500 μm in diameter in ruby hemispheres. Examples of composite spheres made with a Pt or WC core and Al2O3 shell used in metallic liquids pressurized to 16 GPa and 1900 K are shown. © 2001 American Institute of Physics.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Psychosomatic Research 7 (1963), S. 45-60 
    ISSN: 0022-3999
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Psychosomatic Research 16 (1972), S. 241-250 
    ISSN: 0022-3999
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: Background:  Little is known on the adult outcome and longitudinal trajectory of childhood developmental language disorders (DLD) and on the prognostic predictors.Method:  Seventeen men with a severe receptive DLD in childhood, reassessed in middle childhood and early adult life, were studied again in their mid-thirties with tests of intelligence (IQ), language, literacy, theory of mind and memory together with assessments of psychosocial outcome. They were compared with the non language disordered siblings of the DLD cohort to control for shared family background, adults matched to the DLD cohort on age and performance IQ (IQM group) and a cohort from the National Child Development Study (NCDS) matched to the DLD cohort on childhood IQ and social class.Results:  The DLD men had normal intelligence with higher performance IQ than verbal IQ, a severe and persisting language disorder, severe literacy impairments and significant deficits in theory of mind and phonological processing. Within the DLD cohort higher childhood intelligence and language were associated with superior cognitive and language ability at final adult outcome. In their mid-thirties, the DLD cohort had significantly worse social adaptation (with prolonged unemployment and a paucity of close friendships and love relationships) compared with both their siblings and NCDS controls. Self-reports showed a higher rate of schizotypal features but not affective disorder. Four DLD adults had serious mental health problems (two had developed schizophrenia).Conclusion:  A receptive developmental language disorder involves significant deficits in theory of mind, verbal short-term memory and phonological processing, together with substantial social adaptation difficulties and increased risk of psychiatric disorder in adult life. The theoretical and clinical implications of the findings are discussed.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: Family history data on 99 autistic and 36 Down's syndrome probands are reported. They confirmed a raised familial loading for both autism and more broadly defined pervasive developmental disorders in siblings (2.9% and 2.9%, respectively, vs 0% in the Down's group) and also evidence for the familial aggregation of a lsser'variant of autism, comprising more subtle communication/social impairments or stereotypic behaviours, but not mental retardation alone. Between 12.4 and 20.4% of the autism siblings and 1.6% and 3.2% of the Down's siblings exhibited this lesser variant, depending on the stringency of its definition. Amongst autistic probands with speech, various features of their disorder (increased number of autistic symptoms; reduced verbal and performance ability) as well as a history of obstetric complications, indexed an elevation in familial loading. No such association was seen in the probands without speech, even though familial loading for the lesser variant in this subgroup, was significantly higher than in the Down's controls. The findings suggest that the autism phenotype extends beyond autism as traditionally diagnosed; that aetiology involves several genes; that autism is genetically heterogeneous; and that obstetric abnormalities in autistic subjects may derive from abnormality in the foetus.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: Abstract Early screening studies of autistic individuals suggested that up to one-quarter of cases were associated with the Fragile X anomaly. Recent studies find that the usual behavioural phenotype of the Fragile X anomaly is distinct from autism as usually defined, and that a variety of methodological factors contribute to the variability of the prevalence estimates. We report the prevalence of the Fragile X anomaly, using strict cytogenetic criteria, in a large sample of autistic individuals whose diagnosis was confirmed using a standardised diagnostic instrument. The anomaly was detected in 1.6% of tested autistic individuals from a combined sample of: autistic twins; clinic attenders; and, individuals from families multiplex for autism or related cognitive phenotypes. The anomaly was not detected in greater than 2.5% of any of the constituent samples and accounted for only a small proportion of the genetic influences amongst concordant twins and multiplex families. The anomaly was detected in 5% of the 40 tested autistic females, confirming reports that the prevalence of the anomaly is similar amongst autistic individuals of both sexes.
    Type of Medium: Electronic Resource
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