Puck JM - Search Results

1

Brain abnormalities in patients with hyperimmunoglobulin E syndrome.

Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM. Freeman AF, et al. Among authors: puck jm. Pediatrics. 2007 May;119(5):e1121-5. doi: 10.1542/peds.2006-2649. Epub 2007 Apr 16. Pediatrics. 2007. PMID: 17438082

2

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.

Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B. Renner ED, et al. Among authors: puck jm. J Pediatr. 2004 Jan;144(1):93-9. doi: 10.1016/S0022-3476(03)00449-9. J Pediatr. 2004. PMID: 14722525

3

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.

Hay BN, Martin JE, Karp B, Davis J, Darnell D, Solomon B, Turner M, Holland SM, Puck JM. Hay BN, et al. Among authors: puck jm. Am J Med Genet A. 2004 Mar 1;125A(2):145-51. doi: 10.1002/ajmg.a.20595. Am J Med Genet A. 2004. PMID: 14981714

4

A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.

Tock CL, Holland SM, Puck JM, Turner ML. Tock CL, et al. Among authors: puck jm. J Am Acad Dermatol. 2004 Apr;50(4):627-9. doi: 10.1016/j.jaad.2003.09.003. J Am Acad Dermatol. 2004. PMID: 15034515 No abstract available.

5

Dermatitis and the newborn rash of hyper-IgE syndrome.

Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Eberting CL, et al. Among authors: puck jm. Arch Dermatol. 2004 Sep;140(9):1119-25. doi: 10.1001/archderm.140.9.1119. Arch Dermatol. 2004. PMID: 15381553 Review.

6

Hyper-IgE syndromes.

Grimbacher B, Holland SM, Puck JM. Grimbacher B, et al. Among authors: puck jm. Immunol Rev. 2005 Feb;203:244-50. doi: 10.1111/j.0105-2896.2005.00228.x. Immunol Rev. 2005. PMID: 15661034 Review.

7

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Among authors: puck jm. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140

8

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).

Vacek MM, Schäffer AA, Davis J, Fischer RE, Dale JK, Adams S, Straus SE, Puck JM. Vacek MM, et al. Among authors: puck jm. Clin Immunol. 2006 Jan;118(1):59-65. doi: 10.1016/j.clim.2005.09.006. Epub 2005 Oct 27. Clin Immunol. 2006. PMID: 16257267

9

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Zhu S, Hsu AP, Vacek MM, Zheng L, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM. Zhu S, et al. Among authors: puck jm. Hum Genet. 2006 Apr;119(3):284-94. doi: 10.1007/s00439-006-0138-9. Epub 2006 Jan 31. Hum Genet. 2006. PMID: 16446975

10

Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.

Freeman AF, Davis J, Anderson VL, Barson W, Darnell DN, Puck JM, Holland SM. Freeman AF, et al. Among authors: puck jm. Pediatrics. 2006 Oct;118(4):e1271-5. doi: 10.1542/peds.2006-0311. Epub 2006 Aug 28. Pediatrics. 2006. PMID: 16940164

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