Arredondo-Vega FX - Search Results

1

Primary immunodeficiency mutation databases.

Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: arredondo vega fx. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.

2

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Arredondo-Vega FX, et al. Am J Hum Genet. 1998 Oct;63(4):1049-59. doi: 10.1086/302054. Am J Hum Genet. 1998. PMID: 9758612 Free PMC article.

3

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS. Arredondo-Vega FX, et al. Am J Hum Genet. 1994 May;54(5):820-30. Am J Hum Genet. 1994. PMID: 8178821 Free PMC article.

4

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

Hershfield MS, Arredondo-Vega FX, Santisteban I. Hershfield MS, et al. Among authors: arredondo vega fx. J Inherit Metab Dis. 1997 Jun;20(2):179-85. doi: 10.1023/a:1005300621350. J Inherit Metab Dis. 1997. PMID: 9211190 Review.

5

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

Bollinger ME, Arredondo-Vega FX, Santisteban I, Schwarz K, Hershfield MS, Lederman HM. Bollinger ME, et al. N Engl J Med. 1996 May 23;334(21):1367-71. doi: 10.1056/NEJM199605233342104. N Engl J Med. 1996. PMID: 8614422 Free article. No abstract available.

6

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y. Ariga T, et al. Among authors: arredondo vega fx. J Immunol. 2001 Feb 1;166(3):1698-702. doi: 10.4049/jimmunol.166.3.1698. J Immunol. 2001. PMID: 11160213

7

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Arredondo-Vega FX, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey MS, Hershfield MS. Arredondo-Vega FX, et al. J Clin Invest. 1990 Aug;86(2):444-52. doi: 10.1172/JCI114730. J Clin Invest. 1990. PMID: 1974554 Free PMC article.

8

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.

Richard E, Arredondo-Vega FX, Santisteban I, Kelly SJ, Patel DD, Hershfield MS. Richard E, et al. Among authors: arredondo vega fx. J Exp Med. 2000 Nov 6;192(9):1223-36. doi: 10.1084/jem.192.9.1223. J Exp Med. 2000. PMID: 11067872 Free PMC article.

9

E. coli expression system for identifying folding mutations of human adenosine deaminase.

Santisteban I, Arredondo-Vega FX, Daniels S, Hershfield MS. Santisteban I, et al. Among authors: arredondo vega fx. Methods Mol Biol. 2003;232:175-82. doi: 10.1385/1-59259-394-1:175. Methods Mol Biol. 2003. PMID: 12840549 No abstract available.

10

Adenosine deaminase deficiency in adults.

Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, Aguzzi A, Lederman HM, Fleischman A, Winkelstein JA, Seger RA, Hershfield MS. Ozsahin H, et al. Among authors: arredondo vega fx. Blood. 1997 Apr 15;89(8):2849-55. Blood. 1997. PMID: 9108404 Free article.

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