Puck JM - Search Results

1

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.

2

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.

3

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.

4

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.

5

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

6

Genetic linkage of hyper-IgE syndrome to chromosome 4.

Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Among authors: puck jm. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 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

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM. Buckley RH, et al. Among authors: puck jm. J Pediatr. 1997 Mar;130(3):378-87. doi: 10.1016/s0022-3476(97)70199-9. J Pediatr. 1997. PMID: 9063412

9

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.

Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. Griffith LM, et al. Among authors: puck jm. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022. J Allergy Clin Immunol. 2009. PMID: 20004776 Free PMC article.

10

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.

Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB. Kuo CY, et al. J Clin Immunol. 2020 Nov;40(8):1124-1131. doi: 10.1007/s10875-020-00857-9. Epub 2020 Sep 2. J Clin Immunol. 2020. PMID: 32880085 Free PMC article.

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