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- Dahl, F, et al.
(författare)
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Imaging single DNA molecules for high precision NIPT
- 2018
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1, s. 4549-
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Tidskriftsartikel (refereegranskat)abstract
- Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing. The primary objective of this study was to assess the Vanadis NIPT assay with respect to analytical precision and clinical feasibility. Analysis of reference DNA samples indicate that samples which are challenging to analyze with low fetal-fraction can be readily detected with a limit of detection determined at <2% fetal-fraction. In total of 286 clinical samples were analysed and 30 out of 30 pregnancies affected by trisomy 21 were classified correctly. This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates.
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- Falci, S, et al.
(författare)
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Obliteration of a posttraumatic spinal cord cyst with solid human embryonic spinal cord grafts : first clinical attempt.
- 1997
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Ingår i: Journal of Neurotrauma. - : Mary Ann Liebert Inc. - 0897-7151 .- 1557-9042. ; 14, s. 875-
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Tidskriftsartikel (refereegranskat)abstract
- Cystic lesions of the spinal cord (syringomyelia) may occur after spinal cord injury. Posttraumatic syringomyelia may result in a myelopathy causing symptoms of sensory and motor loss, as well as worsening spasticity, pain, hyperhidrosis, and autonomic dysreflexia. Shunting of the cyst cavity along with untethering of the scarred spinal cord is widely accepted as the treatment of choice. However, the long-term stabilization of the progressive myelopathy caused by a posttraumatic cyst is suboptimal because of arachnoidal rescarring, shunt tube blockage, and cyst reexpansion. A new neurosurgical strategy to overcome the complication of cyst reexpansion was designed. Experimental studies have shown the successful use of embryonic spinal cord grafts, including human grafts, to obliterate induced spinal cord cavities in rats. The authors report the first use of solid human embryonic spinal cord grafts to successfully obliterate 6 cm of a large cyst cavity in a patient becoming myelopathic from a posttraumatic cyst. The grafts are well visualized by MRI to the 7-month postoperative follow-up and cyst obliteration is seen in the region where the grafts were placed.
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- Algovik, M, et al.
(författare)
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Genetic influence on dystocia
- 2004
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Ingår i: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 0001-6349. ; 83:9, s. 832-837
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Tidskriftsartikel (refereegranskat)
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| 27. |
- Algovik, M, et al.
(författare)
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Genetic influence on dystocia
- 2003
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Ingår i: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. - : Elsevier BV. - 0002-9378. ; 189:6, s. S113-S113
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 28. |
- Algovik, M, et al.
(författare)
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No mutations found in candidate genes for dystocia
- 1999
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Ingår i: Human reproduction (Oxford, England). - : Oxford University Press (OUP). - 0268-1161 .- 1460-2350. ; 14:10, s. 2451-2454
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Tidskriftsartikel (refereegranskat)
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- Broliden, K, et al.
(författare)
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[Parvovirus B19 infection--an incidious chameleon]
- 2000
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Ingår i: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. - 0029-2001. ; 120:4, s. 455-8
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Tidskriftsartikel (refereegranskat)
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| 36. |
- Broliden, K, et al.
(författare)
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[Parvovirus B19 infection--an insidious chameleon].
- 1999
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 96:46
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Tidskriftsartikel (refereegranskat)abstract
- Parvovirus B19 is a common source of infection with a seroprevalence of 60-70 per cent in the adult population. The most common manifestation is erythema infectiosum ('fifth disease'), with exanthem, fever and upper airway symptoms in children. The infection can give rise to a multifacetted clinical picture and is probably underdiagnosed, particularly in risk groups (individuals with haemolytic anaemia or immunosuppression, and fetuses). Serological diagnosis can now be complemented with the demonstration of viral DNA using the PCR (polymerase chain reaction) test in various body fluids, or tissue biopsy. Recent years have witnessed manifest increase in clinical knowledge of parvovirus B19-associated complications, and their diagnosis and treatment.
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- Hulten, MA, et al.
(författare)
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On the origin of trisomy 21 Down syndrome
- 2008
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Ingår i: Molecular cytogenetics. - : Springer Science and Business Media LLC. - 1755-8166. ; 1, s. 21-
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Tidskriftsartikel (refereegranskat)
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