These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
125 related articles for article (PubMed ID: 8260196)
1. Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis. Lacerda L; Amaral O; Pinto R; Aerts J; Sá Miranda MC Biochem Med Metab Biol; 1993 Oct; 50(2):190-6. PubMed ID: 8260196 [TBL] [Abstract][Full Text] [Related]
2. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Horowitz M; Pasmanik-Chor M; Borochowitz Z; Falik-Zaccai T; Heldmann K; Carmi R; Parvari R; Beit-Or H; Goldman B; Peleg L; Levy-Lahad E; Renbaum P; Legum S; Shomrat R; Yeger H; Benbenisti D; Navon R; Dror V; Shohat M; Magal N; Navot N; Eyal N Hum Mutat; 1998; 12(4):240-4. PubMed ID: 9744474 [TBL] [Abstract][Full Text] [Related]
3. The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism. Lacerda L; Amaral O; Pinto R; Aerts J; Sá Miranda MC J Inherit Metab Dis; 1994; 17(1):85-8. PubMed ID: 8051940 [TBL] [Abstract][Full Text] [Related]
4. Parkinson's disease in patients and obligate carriers of Gaucher disease. Becker JG; Pastores GM; Di Rocco A; Ferraris M; Graber JJ; Sathe S Parkinsonism Relat Disord; 2013 Jan; 19(1):129-31. PubMed ID: 22940477 [TBL] [Abstract][Full Text] [Related]
5. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population. Lacerda L; Amaral O; Pinto R; Oliveira P; Aerts J; Sá Miranda MC Clin Genet; 1994 Jun; 45(6):298-300. PubMed ID: 7923859 [TBL] [Abstract][Full Text] [Related]
6. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. Hodanová K; Hrebícek M; Cervenková M; Mrázová L; Vepreková L; Zemen J Blood Cells Mol Dis; 1999; 25(5-6):287-98. PubMed ID: 10744424 [TBL] [Abstract][Full Text] [Related]
7. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853 [TBL] [Abstract][Full Text] [Related]
8. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Zimran A; Horowitz M Am J Med Genet; 1994 Mar; 50(1):74-8. PubMed ID: 8160756 [TBL] [Abstract][Full Text] [Related]
9. The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation. Aerts JM; Sa Miranda MC; Wanzeller de Lacerda L; van Weely S; Donker-Koopman W; Brouwer-Kelder B; Jansen DC; van Leeuwen M; Schram AW; Tsiapara A Clin Chim Acta; 1991 Dec; 203(2-3):349-61. PubMed ID: 1838035 [TBL] [Abstract][Full Text] [Related]
10. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Mao R; O'Brien JF; Rao S; Schmitt E; Roa B; Feldman GL; Spence WC; Snow K Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731 [TBL] [Abstract][Full Text] [Related]
11. Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies. Michelakakis H; Dimitriou E; Van Weely S; Boot RG; Mavridou I; Verhoek M; Aerts JM J Inherit Metab Dis; 1995; 18(5):609-15. PubMed ID: 8598642 [TBL] [Abstract][Full Text] [Related]
13. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Lau EK; Tayebi N; Ingraham LJ; Winfield SL; Koprivica V; Stone DL; Zimran A; Ginns EI; Sidransky E Hum Genet; 1999 Apr; 104(4):293-300. PubMed ID: 10369158 [TBL] [Abstract][Full Text] [Related]
14. Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation. Amaral O; Marcão A; Pinto E; Zimran A; Miranda MC Blood Cells Mol Dis; 1997 Dec; 23(3):415-6. PubMed ID: 9446756 [TBL] [Abstract][Full Text] [Related]
15. Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia. Pocovi M; Cenarro A; Civeira F; Torralba MA; Perez-Calvo JI; Mozas P; Giraldo P; Giralt M; Myers RH; Cupples LA; Ordovas JM Lancet; 1998 Jun; 351(9120):1919-23. PubMed ID: 9654259 [TBL] [Abstract][Full Text] [Related]
16. Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S. Jack A; Amato D; Morris G; Choy FY Gene; 2014 Mar; 538(1):84-7. PubMed ID: 24434810 [TBL] [Abstract][Full Text] [Related]
17. Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. Walley AJ; Barth ML; Ellis I; Fensom AH; Harris A J Med Genet; 1993 Apr; 30(4):280-3. PubMed ID: 8487270 [TBL] [Abstract][Full Text] [Related]
18. Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. Amaral O; Fortuna AM; Lacerda L; Pinto R; Sa Miranda MC J Med Genet; 1994 May; 31(5):401-4. PubMed ID: 8064820 [TBL] [Abstract][Full Text] [Related]
19. Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. Park JK; Koprivica V; Andrews DQ; Madike V; Tayebi N; Stone DL; Sidransky E Am J Med Genet; 2001 Mar; 99(2):147-51. PubMed ID: 11241475 [TBL] [Abstract][Full Text] [Related]
20. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. Reissner K; Tayebi N; Stubblefield BK; Koprivica V; Blitzer M; Holleran W; Cowan T; Almashanu S; Maddalena A; Karson EM; Sidransky E Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]