Puck JM - Search Results

1

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.

Puck JM, Middelton L, Pepper AE. Puck JM, et al. Hum Genet. 1997 May;99(5):628-33. doi: 10.1007/s004390050418. Hum Genet. 1997. PMID: 9150730

2

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

Pepper AE, Buckley RH, Small TN, Puck JM. Pepper AE, et al. Among authors: puck jm. Am J Hum Genet. 1995 Sep;57(3):564-71. Am J Hum Genet. 1995. PMID: 7668284 Free PMC article.

3

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Bédard PM, Laframboise R. Puck JM, et al. J Clin Invest. 1995 Feb;95(2):895-9. doi: 10.1172/JCI117740. J Clin Invest. 1995. PMID: 7860773 Free PMC article.

4

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.

Tassara C, Pepper AE, Puck JM. Tassara C, et al. Among authors: puck jm. Hum Mol Genet. 1995 Sep;4(9):1693-5. doi: 10.1093/hmg/4.9.1693. Hum Mol Genet. 1995. PMID: 8541866 No abstract available.

5

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH. Puck JM, et al. Blood. 1997 Mar 15;89(6):1968-77. Blood. 1997. PMID: 9058718 Free article.

6

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: puck jm. Am J Hum Genet. 1999 Apr;64(4):1002-14. doi: 10.1086/302333. Am J Hum Genet. 1999. PMID: 10090885 Free PMC article.

7

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

O'Marcaigh AS, Puck JM, Pepper AE, De Santes K, Cowan MJ. O'Marcaigh AS, et al. Among authors: puck jm. J Clin Immunol. 1997 Jan;17(1):29-33. doi: 10.1023/a:1027332327827. J Clin Immunol. 1997. PMID: 9049783

8

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE. Sneller MC, et al. Among authors: puck jm. Blood. 1997 Feb 15;89(4):1341-8. Blood. 1997. PMID: 9028957 Free article.

9

Molecular basis for three X-linked immune disorders.

Puck JM. Puck JM. Hum Mol Genet. 1994;3 Spec No:1457-61. doi: 10.1093/hmg/3.suppl_1.1457. Hum Mol Genet. 1994. PMID: 7849738 Review.

10

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM. Infante AJ, et al. Among authors: puck jm. J Pediatr. 1998 Nov;133(5):629-33. doi: 10.1016/s0022-3476(98)70102-7. J Pediatr. 1998. PMID: 9821419

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