Kozlowski P - Search Results

1

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Kozlowski P, et al. Hum Genet. 2007 May;121(3-4):389-400. doi: 10.1007/s00439-006-0308-9. Epub 2007 Feb 8. Hum Genet. 2007. PMID: 17287951

2

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Qin W, et al. Among authors: kozlowski p. Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18. Hum Genet. 2010. PMID: 20165957 Free PMC article.

3

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members; Kwiatkowski DJ. Ogórek B, et al. Among authors: kozlowski p. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669 Free article.

4

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Kozlowski P, et al. Genomics. 2008 Feb;91(2):203-8. doi: 10.1016/j.ygeno.2007.10.003. Epub 2007 Dec 3. Genomics. 2008. PMID: 18060739 Free PMC article.

5

Association of common CRP gene variants with CRP levels and cardiovascular events.

Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Miller DT, et al. Among authors: kozlowski p. Ann Hum Genet. 2005 Nov;69(Pt 6):623-38. doi: 10.1111/j.1529-8817.2005.00210.x. Ann Hum Genet. 2005. PMID: 16266402

6

Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia.

Suk Danik J, Chasman DI, Cannon CP, Miller DT, Zee RY, Kozlowski P, Kwiatkowski DJ, Ridker PM. Suk Danik J, et al. Among authors: kozlowski p. Ann Hum Genet. 2006 Nov;70(Pt 6):705-16. doi: 10.1111/j.1469-1809.2006.00272.x. Ann Hum Genet. 2006. PMID: 17044845

7

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels.

Kozlowski P, Miller DT, Zee RYL, Danik JS, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Kozlowski P, et al. Ann Hum Genet. 2006 Sep;70(5):574-586. doi: 10.1111/j.1469-1809.2005.00256.x. Ann Hum Genet. 2006. PMID: 29488224

8

Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels.

Kozlowski P, Miller DT, Zee RY, Danik JS, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Kozlowski P, et al. Ann Hum Genet. 2006 Sep;70(Pt 5):574-86. doi: 10.1111/j.1469-1809.2005.00256.x. Ann Hum Genet. 2006. PMID: 16907704 Clinical Trial.

9

TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity.

Liang MC, Ma J, Chen L, Kozlowski P, Qin W, Li D, Goto J, Shimamura T, Hayes DN, Meyerson M, Kwiatkowski DJ, Wong KK. Liang MC, et al. Among authors: kozlowski p. Oncogene. 2010 Mar 18;29(11):1588-97. doi: 10.1038/onc.2009.452. Epub 2009 Dec 7. Oncogene. 2010. PMID: 19966866 Free PMC article.

10

New applications and developments in the use of multiplex ligation-dependent probe amplification.

Kozlowski P, Jasinska AJ, Kwiatkowski DJ. Kozlowski P, et al. Electrophoresis. 2008 Dec;29(23):4627-36. doi: 10.1002/elps.200800126. Electrophoresis. 2008. PMID: 19053154 Review.

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