774 related articles for article (PubMed ID: 10649495)
1. 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]
2. 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]
3. 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]
4. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L
Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
Drugan C; Procopciuc L; Jebeleanu G; Grigorescu-Sido P; Dussau J; Poenaru L; Caillaud C
Eur J Hum Genet; 2002 Sep; 10(9):511-5. PubMed ID: 12173027
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
Tayebi N; Reissner KJ; Lau EK; Stubblefield BK; Klineburgess AC; Martin BM; Sidransky E
Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H
Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
Lewis BD; Nelson PV; Robertson EF; Morris CP
Am J Med Genet; 1994 Jan; 49(2):218-23. PubMed ID: 8116672
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M; Mazzotti R; Stroppiano M; Seri M; Giona F; Parenti G; Regis S; Corsolini F; Zoboli S; Gatti R
Hum Mutat; 2002 Sep; 20(3):234-5. PubMed ID: 12204005
[TBL] [Abstract][Full Text] [Related]
17. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS; LaMarca ME; Scott CR; Sidransky E
Hum Mutat; 2008 May; 29(5):567-83. PubMed ID: 18338393
[TBL] [Abstract][Full Text] [Related]
18. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
Martínez-Arias R; Comas D; Mateu E; Bertranpetit J
Hum Mutat; 2001 Mar; 17(3):191-8. PubMed ID: 11241841
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic characteristics of Korean patients with Gaucher disease.
Jeong SY; Park SJ; Kim HJ
Blood Cells Mol Dis; 2011 Jan; 46(1):11-4. PubMed ID: 20729108
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
