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| 2. |
- Shaikh, M G, et al.
(författare)
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Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
- 2008
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:9
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Tidskriftsartikel (refereegranskat)abstract
- Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. Investigation using the androgen receptor as a marker gene identified skewed inactivation of the X chromosome. In the patient's leucocytes, the paternal X chromosome was completely inactive, but in muscle 20% of the active chromosomes were of paternal origin. Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female. Variability in X inactivation between tissues may account for the pronounced salt loss and adrenal insufficiency but mild muscular dystrophy.
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| 3. |
- Achermann, M, et al.
(författare)
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Carrier and field dynamics around nanoscale Schottky contacts investigated by ultrafast near-field optics
- 2002
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Ingår i: Physical Review B (Condensed Matter and Materials Physics). - 1098-0121. ; 65:4
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Tidskriftsartikel (refereegranskat)abstract
- We present femtosecond-resolved optical near-field pump-probe measurements of spatiotemporal carrier dynamics around a single nanoscale tungsten (W) disk embedded in GaAs. In these samples, Schottky contacts are formed at the W/GaAs interface. The experimental results are modeled by a selfconsistent treatment of the drift-diffusion equation for the carriers and Poisson's equation for the built-in electric field. At lower optically excited carrier densities, we observe that the built-in field suppresses electron transport towards and trapping into the metal particles. In this regime, an accumulation of carriers is seen at the edge of the depletion region of the Schottky contacts. The calculation reveals that the formation of a self-induced dynamic potential well is the origin of this result. In the high-density regime, efficient carrier transport towards and trapping into the W nanoparticle take place, resulting from the screening of the built-in field. These results allow us to describe measurements of the carrier dynamics in annealed low-temperature grown GaAs and demonstrate that the coupling of the carrier and field dynamics can substantially affect carrier trapping in metal-semiconductor composite materials.
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| 4. |
- Achermann, M, et al.
(författare)
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Carrier dynamics around nano-scale Schottky contacts: a femtosecond near-field study
- 2002
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Ingår i: Applied Surface Science. - 1873-5584. ; 190:1-4, s. 513-516
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Tidskriftsartikel (refereegranskat)abstract
- We report spatially and time-resolved measurements of ultrafast carrier dynamics around buried nano-scale Schottky contacts, performed with a novel femtosecond near-field scanning optical microscope. The experimental results are modeled by a self-consistent treatment of the drift-diffusion equation for the carriers and Poisson's equation for the built-in electric field. We show that the built-in field suppresses electron transport towards and trapping into the metal particles at lower optically excited carrier densities. In contrast, efficient electron trapping into the metal occurs at higher electron densities, which screen the built-in field, allowing for efficient transport of electrons towards the Schottky contact. (C) 2002 Elsevier Science B.V. All rights reserved.
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| 5. |
- Achermann, M, et al.
(författare)
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Nano-scale Schottky contacts: ultrafast drift-diffusion dynamics studied in the optical near field
- 2002
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Ingår i: Physica E: Low-Dimensional Systems and Nanostructures. - 1386-9477. ; 13:2-4, s. 819-822
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Tidskriftsartikel (refereegranskat)abstract
- We present direct measurements of the ultrafast carrier dynamics around buried nano-scale Schottky contacts with high spatial and time resolution, performed with a novel fermosecond near-field scanning optical microscope, It is shown that high optically excited carrier densities screen the built-in field around a Schottky contact and allow for efficient transport of electrons towards the contact, followed by trapping of electrons into the metal. The experimental results are modeled by a self-consistent treatment of the drift-diffusion equation for the carriers and Poisson's equation for the built-in electric field. (C) 2002 Elsevier Science B.V. All rights reserved.
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| 6. |
- Gottwald, Janna M., et al.
(författare)
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An Embodied Account of Early Executive-Function Development : Prospective Motor Control in Infancy Is Related to Inhibition and Working Memory
- 2016
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Ingår i: Psychological Science. - : SAGE Publications. - 0956-7976 .- 1467-9280. ; 27:12, s. 1600-1610
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Tidskriftsartikel (refereegranskat)abstract
- The importance of executive functioning for later life outcomes, along with its potential to be positively affected by intervention programs, motivates the need to find early markers of executive functioning. In this study, 18-month-olds performed three executive-function tasksinvolving simple inhibition, working memory, and more complex inhibitionand a motion-capture task assessing prospective motor control during reaching. We demonstrated that prospective motor control, as measured by the peak velocity of the first movement unit, is related to infants' performance on simple-inhibition and working memory tasks. The current study provides evidence that motor control and executive functioning are intertwined early in life, which suggests an embodied perspective on executive-functioning development. We argue that executive functions and prospective motor control develop from a common source and a single motive: to control action. This is the first demonstration that low-level movement planning is related to higher-order executive control early in life.
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| 7. |
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| 8. |
- Hendry, Alexandra, et al.
(författare)
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Atypical Development of Attentional Control Associates with Later Adaptive Functioning, Autism and ADHD Traits
- 2020
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Ingår i: Journal of autism and developmental disorders. - : Springer Nature. - 0162-3257 .- 1573-3432. ; 50:11, s. 4085-4105
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Tidskriftsartikel (refereegranskat)abstract
- Autism is frequently associated with difficulties with top-down attentional control, which impact on individuals’ mental health and quality of life. The developmental processes involved in these attentional difficulties are not well understood. Using a data-driven approach, 2 samples (N = 294 and 412) of infants at elevated and typical likelihood of autism were grouped according to profiles of parent report of attention at 10, 15 and 25 months. In contrast to the normative profile of increases in attentional control scores between infancy and toddlerhood, a minority (7–9%) showed plateauing attentional control scores between 10 and 25 months. Consistent with pre-registered hypotheses, plateaued growth of attentional control was associated with elevated autism and ADHD traits, and lower adaptive functioning at age 3 years.
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