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Results: 1 to 20 of 95

1.

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, Andolfi G, Mirolo M, Brigida I, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Al-Mousa H, Al Ghonaium A, Ferster A, Duppenthaler A, Notarangelo L, Wintergerst U, Buckley RH, Bregni M, Marktel S, Valsecchi MG, Rossi P, Ciceri F, Miniero R, Bordignon C, Roncarolo MG.

N Engl J Med. 2009 Jan 29;360(5):447-58. doi: 10.1056/NEJMoa0805817.

PMID:
19179314
[PubMed - indexed for MEDLINE]
Free Article
2.

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS.

Curr Opin Immunol. 2003 Oct;15(5):571-7. Review.

PMID:
14499267
[PubMed - indexed for MEDLINE]
3.

Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation.

Van De Wiele CJ, Vaughn JG, Blackburn MR, Ledent CA, Jacobson M, Jiang H, Thompson LF.

J Clin Invest. 2002 Aug;110(3):395-402.

PMID:
12163459
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.

Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C.

Science. 2002 Jun 28;296(5577):2410-3.

PMID:
12089448
[PubMed - indexed for MEDLINE]
Free Article
5.

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS.

Blood. 2002 Feb 1;99(3):1005-13.

PMID:
11807006
[PubMed - indexed for MEDLINE]
Free Article
6.

Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency.

Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB.

J Pediatr. 2001 Jul;139(1):44-50.

PMID:
11445793
[PubMed - indexed for MEDLINE]
7.

Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling.

Apasov SG, Blackburn MR, Kellems RE, Smith PT, Sitkovsky MV.

J Clin Invest. 2001 Jul;108(1):131-41.

PMID:
11435465
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, Myers LA, Ward FE.

N Engl J Med. 1999 Feb 18;340(7):508-16.

PMID:
10021471
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

Am J Hum Genet. 1998 Oct;63(4):1049-59.

PMID:
9758612
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency.

Blackburn MR, Datta SK, Kellems RE.

J Biol Chem. 1998 Feb 27;273(9):5093-100.

PMID:
9478961
[PubMed - indexed for MEDLINE]
Free Article
11.

Visible integration of the adenosine deaminase (ADA) gene into the recipient genome after gene therapy.

Egashira M, Ariga T, Kawamura N, Miyoshi O, Niikawa N, Sakiyama Y.

Am J Med Genet. 1998 Jan 23;75(3):314-7.

PMID:
9475605
[PubMed - indexed for MEDLINE]
12.

Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.

Onodera M, Ariga T, Kawamura N, Kobayashi I, Ohtsu M, Yamada M, Tame A, Furuta H, Okano M, Matsumoto S, Kotani H, McGarrity GJ, Blaese RM, Sakiyama Y.

Blood. 1998 Jan 1;91(1):30-6.

PMID:
9414266
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

Blood. 1997 Apr 15;89(8):2849-55.

PMID:
9108404
[PubMed - indexed for MEDLINE]
Free Article
14.

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, Müller-Fleckenstein I, Horneff G, Schroten H, Fischer A, de Saint Basile G.

N Engl J Med. 1996 Nov 21;335(21):1563-7. No abstract available.

PMID:
8900089
[PubMed - indexed for MEDLINE]
Free Article
15.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE.

Nat Genet. 1996 Jul;13(3):290-5.

PMID:
8673127
[PubMed - indexed for MEDLINE]
16.

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

Bollinger ME, Arredondo-Vega FX, Santisteban I, Schwarz K, Hershfield MS, Lederman HM.

N Engl J Med. 1996 May 23;334(21):1367-71. No abstract available.

PMID:
8614422
[PubMed - indexed for MEDLINE]
Free Article
17.

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L, et al.

J Clin Invest. 1993 Nov;92(5):2291-302.

PMID:
8227344
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

Am J Hum Genet. 1994 May;54(5):820-30.

PMID:
8178821
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.

Umetsu DT, Schlossman CM, Ochs HD, Hershfield MS.

J Allergy Clin Immunol. 1994 Feb;93(2):543-50.

PMID:
8120281
[PubMed - indexed for MEDLINE]
20.

Adult presentation of adenosine deaminase deficiency.

Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD.

Lancet. 1993 Jun 5;341(8858):1471. No abstract available.

PMID:
8099155
[PubMed - indexed for MEDLINE]

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