472 related articles for article (PubMed ID: 9240741)
1. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Choy FY; Wei C; Levin D
Am J Med Genet; 1996 Oct; 65(3):184-9. PubMed ID: 9240741
[TBL] [Abstract][Full Text] [Related]
2. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M; Chabás A; Vilageliu L; Grinberg D
Hum Mutat; 2004 Jun; 23(6):567-75. PubMed ID: 15146461
[TBL] [Abstract][Full Text] [Related]
3. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
Sinclair G; Choy FY; Humphries L
Blood Cells Mol Dis; 1998 Dec; 24(4):420-7. PubMed ID: 9851895
[TBL] [Abstract][Full Text] [Related]
4. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
Choy FY; Wei C; Applegarth DA; McGillivray BC
Am J Med Genet; 1994 Jun; 51(2):156-60. PubMed ID: 7916532
[TBL] [Abstract][Full Text] [Related]
8. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Torralba MA; Pérez-Calvo JI; Pastores GM; Cenarro A; Giraldo P; Pocoví M
Blood Cells Mol Dis; 2001; 27(2):489-95. PubMed ID: 11259172
[TBL] [Abstract][Full Text] [Related]
9. Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.
Hodanová K; Melková Z; Horowitz M; Hrebícek M
Eur J Hum Genet; 2003 May; 11(5):369-74. PubMed ID: 12734541
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Suwannarat P; Keeratichamroen S; Wattanasirichaigoon D; Ngiwsara L; Cairns JR; Svasti J; Visudtibhan A; Pangkanon S
Blood Cells Mol Dis; 2007; 39(3):348-52. PubMed ID: 17689991
[TBL] [Abstract][Full Text] [Related]
11. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Orvisky E; Park JK; Parker A; Walker JM; Martin BM; Stubblefield BK; Uyama E; Tayebi N; Sidransky E
Hum Mutat; 2002 Apr; 19(4):458-9. PubMed ID: 11933202
[TBL] [Abstract][Full Text] [Related]
12. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
[TBL] [Abstract][Full Text] [Related]
13. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.
Choudary PV; Barranger JA; Tsuji S; Mayor J; LaMarca ME; Cepko CL; Mulligan RC; Ginns EI
Mol Biol Med; 1986 Jun; 3(3):293-9. PubMed ID: 3736391
[TBL] [Abstract][Full Text] [Related]
14. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
Cormand B; Díaz A; Grinberg D; Chabás A; Vilageliu L
Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
[TBL] [Abstract][Full Text] [Related]
15. [Molecular genetic approaches to neurologic diseases].
Tsuji S
Rinsho Shinkeigaku; 1989 Dec; 29(12):1550-3. PubMed ID: 2698300
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
Filocamo M; Bonuccelli G; Mazzotti R; Giona F; Gatti R
Blood Cells Mol Dis; 2000 Aug; 26(4):307-11. PubMed ID: 11042032
[TBL] [Abstract][Full Text] [Related]
17. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Alfonso P; Cenarro A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
Blood Cells Mol Dis; 2001; 27(5):882-91. PubMed ID: 11783951
[TBL] [Abstract][Full Text] [Related]
18. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
Tsuji S; Choudary PV; Martin BM; Stubblefield BK; Mayor JA; Barranger JA; Ginns EI
N Engl J Med; 1987 Mar; 316(10):570-5. PubMed ID: 2880291
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Choy FY; Woo M; Der Kaloustian VM
Am J Med Genet; 1991 Dec; 41(4):469-74. PubMed ID: 1776640
[TBL] [Abstract][Full Text] [Related]
20. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Miocić S; Filocamo M; Dominissini S; Montalvo AL; Vlahovicek K; Deganuto M; Mazzotti R; Cariati R; Bembi B; Pittis MG
Hum Mutat; 2005 Jan; 25(1):100. PubMed ID: 15605411
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
