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Results: 1 to 20 of 107

1.

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JM, Lechler RI, Webster AD, Sun XM, Webb JC, Soutar AK.

J Immunol. 1994 Sep 1;153(5):2331-9.

PMID:
8051429
[PubMed - indexed for MEDLINE]
2.

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

Markert ML, Hutton JJ, Wiginton DA, States JC, Kaufman RE.

J Clin Invest. 1988 May;81(5):1323-7.

PMID:
3366897
[PubMed - indexed for MEDLINE]
Free PMC Article
3.
4.

Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.

Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T.

Hum Genet. 1997 Jul;100(1):22-9.

PMID:
9225964
[PubMed - indexed for MEDLINE]
5.
6.

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R.

Hum Mol Genet. 1997 Dec;6(13):2271-8.

PMID:
9361033
[PubMed - indexed for MEDLINE]
Free Article
7.

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

Yang DR, Huie ML, Hirschhorn R.

Clin Immunol Immunopathol. 1994 Feb;70(2):171-5.

PMID:
8299233
[PubMed - indexed for MEDLINE]
8.

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.

J Clin Invest. 1990 Aug;86(2):444-52.

PMID:
1974554
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al.

Hum Mol Genet. 1995 Nov;4(11):2081-7.

PMID:
8589684
[PubMed - indexed for MEDLINE]
10.

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS.

Hum Mutat. 1998;11(6):482.

PMID:
10200056
[PubMed - indexed for MEDLINE]
11.

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
12.

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ.

Proc Natl Acad Sci U S A. 1987 Aug;84(16):5947-51.

PMID:
3475710
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Adenosine deaminase deficiency.

Hirschhorn R.

Immunodefic Rev. 1990;2(3):175-98. Review.

PMID:
2078332
[PubMed - indexed for MEDLINE]
14.

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Hirschhorn R, Chakravarti V, Puck J, Douglas SD.

Am J Hum Genet. 1991 Oct;49(4):878-85.

PMID:
1680289
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).

Hirschhorn R, Yang DR, Insel RA, Ballow M.

Cell Immunol. 1993 Dec;152(2):383-93.

PMID:
8258146
[PubMed - indexed for MEDLINE]
16.

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ.

EMBO J. 1986 Jan;5(1):113-9.

PMID:
3007108
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.

Berkvens TM, van Ormondt H, Gerritsen EJ, Khan PM, van der Eb AJ.

Genomics. 1990 Aug;7(4):486-90.

PMID:
1696926
[PubMed - indexed for MEDLINE]
18.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR.

Am J Hum Genet. 1994 Jul;55(1):59-68.

PMID:
8023852
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

Bonthron DT, Markham AF, Ginsburg D, Orkin SH.

J Clin Invest. 1985 Aug;76(2):894-7.

PMID:
3839802
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother.

Schmalstieg FC, Mills GC, Tsuda H, Goldman AS.

Pediatr Res. 1983 Dec;17(12):935-40.

PMID:
6606796
[PubMed - indexed for MEDLINE]

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