Puck JM - Search Results

1

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.

Shiow LR, Roadcap DW, Paris K, Watson SR, Grigorova IL, Lebet T, An J, Xu Y, Jenne CN, Föger N, Sorensen RU, Goodnow CC, Bear JE, Puck JM, Cyster JG. Shiow LR, et al. Among authors: puck jm. Nat Immunol. 2008 Nov;9(11):1307-15. doi: 10.1038/ni.1662. Epub 2008 Oct 5. Nat Immunol. 2008. PMID: 18836449 Free PMC article.

2

Severe combined immunodeficiency: new advances in diagnosis and treatment.

Puck JM. Puck JM. Immunol Res. 2007;38(1-3):64-7. doi: 10.1007/s12026-007-0029-8. Immunol Res. 2007. PMID: 17917011

3

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.

Puck JM; SCID Newborn Screening Working Group. Puck JM, et al. J Allergy Clin Immunol. 2007 Oct;120(4):760-8. doi: 10.1016/j.jaci.2007.08.043. J Allergy Clin Immunol. 2007. PMID: 17931561

4

Neonatal screening for severe combined immune deficiency.

Puck JM. Puck JM. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):522-7. doi: 10.1097/ACI.0b013e3282f14a2a. Curr Opin Allergy Clin Immunol. 2007. PMID: 17989529 Review.

5

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.

Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Lebet T, et al. Among authors: puck jm. Genet Med. 2008 Aug;10(8):575-85. doi: 10.1097/gim.0b013e31818063bc. Genet Med. 2008. PMID: 18641513

6

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Shiow LR, et al. Among authors: puck jm. Clin Immunol. 2009 Apr;131(1):24-30. doi: 10.1016/j.clim.2008.11.002. Epub 2008 Dec 20. Clin Immunol. 2009. PMID: 19097825 Free PMC article.

7

Population-based newborn screening for severe combined immunodeficiency.

Puck JM. Puck JM. Biol Blood Marrow Transplant. 2008 Jan;14(1 Suppl 1):78-80. Biol Blood Marrow Transplant. 2008. PMID: 19418625 Review. No abstract available.

8

Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.

Chan A, Scalchunes C, Boyle M, Puck JM. Chan A, et al. Among authors: puck jm. Clin Immunol. 2011 Jan;138(1):3-8. doi: 10.1016/j.clim.2010.09.010. Epub 2010 Oct 28. Clin Immunol. 2011. PMID: 21035402 Free PMC article.

9

Neonatal screening for severe combined immunodeficiency.

Puck JM. Puck JM. Curr Opin Pediatr. 2011 Dec;23(6):667-73. doi: 10.1097/MOP.0b013e32834cb9b0. Curr Opin Pediatr. 2011. PMID: 22001765 Free PMC article.

10

The case for newborn screening for severe combined immunodeficiency and related disorders.

Puck JM. Puck JM. Ann N Y Acad Sci. 2011 Dec;1246:108-17. doi: 10.1111/j.1749-6632.2011.06346.x. Ann N Y Acad Sci. 2011. PMID: 22236435 Free PMC article. Review.

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