212 related articles for article (PubMed ID: 10200056)
1. 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. PubMed ID: 10200056
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 8258146
[TBL] [Abstract][Full Text] [Related]
3. 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
J Clin Invest; 1993 Nov; 92(5):2291-302. PubMed ID: 8227344
[TBL] [Abstract][Full Text] [Related]
4. Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
Hirschhorn R; Ellenbogen A; Tzall S
Am J Med Genet; 1992 Jan; 42(2):201-7. PubMed ID: 1346349
[TBL] [Abstract][Full Text] [Related]
5. 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; 153(5):2331-9. PubMed ID: 8051429
[TBL] [Abstract][Full Text] [Related]
6. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
Sanchez JJ; Monaghan G; Børsting C; Norbury G; Morling N; Gaspar HB
Ann Hum Genet; 2007 May; 71(Pt 3):336-47. PubMed ID: 17181544
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of adenosine deaminase deficiency.
Markert ML
Immunodeficiency; 1994; 5(2):141-57. PubMed ID: 8032366
[TBL] [Abstract][Full Text] [Related]
8. Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.
Hershfield MS
Semin Hematol; 1998 Oct; 35(4):291-8. PubMed ID: 9801258
[TBL] [Abstract][Full Text] [Related]
9. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D; Gur Cetinkaya P; Karaatmaca B; Esenboga S; Tan C; Yılmaz T; Gümüş E; Barış S; Kuşkonmaz B; Ozgur TT; Bali P; Santisteban I; Orhan D; Yüce A; Cetinkaya D; Boztug K; Hershfield M; Sanal O; Tezcan İ
J Clin Immunol; 2018 May; 38(4):484-493. PubMed ID: 29744787
[TBL] [Abstract][Full Text] [Related]
10. Adenosine deaminase deficiency.
Hirschhorn R
Immunodefic Rev; 1990; 2(3):175-98. PubMed ID: 2078332
[TBL] [Abstract][Full Text] [Related]
11. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G; Canessa C; Giocaliere E; Romano F; Duse M; Malvagia S; Lippi F; Funghini S; Bianchi L; Della Bona ML; Valleriani C; Ombrone D; Moriondo M; Villanelli F; Speckmann C; Adams S; Gaspar BH; Hershfield M; Santisteban I; Fairbanks L; Ragusa G; Resti M; de Martino M; Guerrini R; Azzari C
J Allergy Clin Immunol; 2013 Jun; 131(6):1604-10. PubMed ID: 23280131
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 9758612
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 8299233
[TBL] [Abstract][Full Text] [Related]
14. Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
Kühl JS; Schwarz K; Münch A; Schmugge M; Pekrun A; Meisel C; Wahn V; Ebell W; von Bernuth H
Klin Padiatr; 2011 Mar; 223(2):85-9. PubMed ID: 21271505
[TBL] [Abstract][Full Text] [Related]
15. [Genetic analysis of two patients with adenosine deaminase (ADA)-deficiency: detection of three novel mutations and characterization of two paradoxical carriers].
Oda N; Ariga T; Ono S; Kobayashi I; Kawamura N; Okano M; Kobayashi Y; Taniuchi S; Terada K; Kataoka N; Sakiyama Y
Arerugi; 2000 Dec; 49(12):1173-80. PubMed ID: 11197883
[TBL] [Abstract][Full Text] [Related]
16. Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
Hirschhorn R
Hum Mutat; 1992; 1(2):166-8. PubMed ID: 1284479
[No Abstract] [Full Text] [Related]
17. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
Hirschhorn R; Nicknam MN; Eng F; Yang DR; Borkowsky W
J Immunol; 1992 Nov; 149(9):3107-12. PubMed ID: 1401934
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 9361033
[TBL] [Abstract][Full Text] [Related]
19. Normal and mutant human adenosine deaminase genes.
Akeson AL; Wiginton DA; Hutton JJ
J Cell Biochem; 1989 Mar; 39(3):217-28. PubMed ID: 2651461
[TBL] [Abstract][Full Text] [Related]
20. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Adams SP; Wilson M; Harb E; Fairbanks L; Xu-Bayford J; Brown L; Kearney L; Madkaikar M; Bobby Gaspar H
Clin Immunol; 2015 Dec; 161(2):174-9. PubMed ID: 26255240
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
