Hsu AP - Search Results

1

Mutation analysis in primary immunodeficiency diseases: case studies.

Hsu AP, Fleisher TA, Niemela JE. Hsu AP, et al. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):517-24. doi: 10.1097/ACI.0b013e3283328f59. Curr Opin Allergy Clin Immunol. 2009. PMID: 19841577 Free PMC article. Review.

2

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM. Jackson CE, et al. Among authors: hsu ap. Am J Hum Genet. 1999 Apr;64(4):1002-14. doi: 10.1086/302333. Am J Hum Genet. 1999. PMID: 10090885 Free PMC article.

3

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP. Niemela JE, et al. Among authors: hsu ap. Clin Immunol. 2000 Apr;95(1 Pt 1):33-8. doi: 10.1006/clim.2000.4846. Clin Immunol. 2000. PMID: 10794430

4

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

Niemela JE, Hsu AP, Fleisher TA, Puck JM. Niemela JE, et al. Among authors: hsu ap. Mol Cell Probes. 2006 Feb;20(1):21-6. doi: 10.1016/j.mcp.2005.05.004. Epub 2005 Nov 4. Mol Cell Probes. 2006. PMID: 16271851

5

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek Á, Maródi L, Kajtár P, Kosztolányi G, Puck JM. Kellermayer R, et al. Among authors: hsu ap. J Hum Genet. 2006;51(5):495-497. doi: 10.1007/s10038-006-0386-5. Epub 2006 Apr 7. J Hum Genet. 2006. PMID: 16601912

6

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, Linton GF, Anderson SM, Kirby MR, Oliveira JB, Brown MR, Fleisher TA, Law SK, Holland SM. Uzel G, et al. Among authors: hsu ap. Blood. 2008 Jan 1;111(1):209-18. doi: 10.1182/blood-2007-04-082552. Epub 2007 Sep 17. Blood. 2008. PMID: 17875809 Free PMC article.

7

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM. Hsu AP, et al. Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7. Genet Med. 2012. PMID: 22237435 Free article.

8

A novel STAT1 mutation associated with disseminated mycobacterial disease.

Sampaio EP, Bax HI, Hsu AP, Kristosturyan E, Pechacek J, Chandrasekaran P, Paulson ML, Dias DL, Spalding C, Uzel G, Ding L, McFarland E, Holland SM. Sampaio EP, et al. Among authors: hsu ap. J Clin Immunol. 2012 Aug;32(4):681-689. doi: 10.1007/s10875-012-9659-2. Epub 2012 Feb 29. J Clin Immunol. 2012. PMID: 22437822 Free PMC article.

9

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. Among authors: hsu ap. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.

10

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

Freeman AF, Renner ED, Henderson C, Langenbeck A, Olivier KN, Hsu AP, Hagl B, Boos A, Davis J, Marciano BE, Boris L, Welch P, Sawalle-Belohradsky J, Belohradsky BH, Kwong KF, Holland SM. Freeman AF, et al. Among authors: hsu ap. J Clin Immunol. 2013 Jul;33(5):896-902. doi: 10.1007/s10875-013-9890-5. Epub 2013 Apr 13. J Clin Immunol. 2013. PMID: 23584561

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