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1 to 10 of 37 literature results
Germline mutation in serine/threonine kinase 11 (STK11, also called LKB1) results in Peutz-Jeghers syndrome, characterized by intestinal hamartomas an…
Authors: Hongbin Ji, Matthew R Ramsey, D Neil Hayes, Cheng Fan, Kate McNamara, Piotr Kozlowski, Chad Torrice, Michael C Wu, Takeshi Shimamura, Samanthi A Perera,…
Source: Nature. 2007 Aug 16
View Full TextMultiplex ligation-dependent probe amplification (MLPA) is a commonly used technique for determining relative DNA sequence dosage (or copy number) in …
Authors: Piotr Kozlowski, Anna J Jasinska, David J Kwiatkowski
Source: Electrophoresis. 2008 Dec
View Full TextMyelin water imaging (MWI) promises to be invaluable in understanding neurological diseases like MS. However, a limitation of MWI is signal to noise r…
Authors: Cornelia Laule, Piotr Kozlowski, Esther Leung, David K B Li, Alex L Mackay, G R Wayne Moore
Source: NeuroImage. 2008 May 1
View Full TextBACKGROUND: Tears of the acetabular labrum are frequently present in patients with groin pain. While it is clear that the labrum contributes to the su…
Authors: Laura L Greaves, Michael K Gilbart, Andrew C Yung, Piotr Kozlowski, David R Wilson
Source: Journal of biomechanics. 2010 Mar 22
View Full TextNumerous mutations and polymorphisms in human genes remain to be identified using reliable methods. Of the available mutation scanning methods those d…
Authors: Piotr Kozlowski, Wlodzimierz J Krzyzosiak
Source: Electrophoresis. 2005 Jan
View Full TextAutosomal dominant polycystic kidney disease is largely due to mutations in PKD1. PKD1 has an unusual genomic structure, including a 2.5-kb polypyrimi…
Authors: Piotr Kozlowski, John Bissler, York Pei, David J Kwiatkowski
Source: Genomics. 2008 Feb
View Free Full TextRATIONALE AND OBJECTIVES: To test whether individually measured arterial input function (AIF) provides more accurate prostate cancer diagnosis then po…
Authors: Ran Meng, Silvia D Chang, Edward C Jones, S Larry Goldenberg, Piotr Kozlowski
Source: Academic radiology. 2010 Apr
View Full TextCardiometabolic risk factors are sorely underreported after spinal cord injury (SCI), despite the high prevalence of metabolic disorders and cardiovas…
Authors: Jessica Inskip, Ward Plunet, Leanne Ramer, John Byron Ramsey, Andrew Yung, Piotr Kozlowski, Matt Ramer, Andrei Krassioukov
Source: Journal of neurotrauma. 2010 Jan
View Full TextAlthough the trinucleotide repeats are present in the exons of numerous human genes, the allele distribution is not well known, and the factors respon…
Authors: Matylda Rozanska, Krzysztof Sobczak, Anna Jasinska, Marek Napierala, Danuta Kaczynska, Anna Czerny, Magdalena Koziel, Piotr Kozlowski, Marta Olejniczak, Wlodzimierz J Krzyzosiak
Source: Human mutation. 2007 May
View Full TextCapillary electrophoresis (CE) is a versatile analytical platform widely used for nucleic acids analysis. Its applications in research and diagnostics…
Authors: Piotr Kozlowski, Wlodzimierz J Krzyzosiak
Source: Electrophoresis. 2004 Apr
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