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.
165 related articles for article (PubMed ID: 16086325)
21. 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]
22. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). Filocamo M; Mazzotti R; Stroppiano M; Grossi S; Dravet C; Guerrini R Epilepsia; 2004 Sep; 45(9):1154-7. PubMed ID: 15329082 [TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
27. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene. Laubscher KH; Glew RH; Lee RE; Okinaka RT Hum Mutat; 1994; 3(4):411-5. PubMed ID: 8081401 [No Abstract] [Full Text] [Related]
28. [From gene to disease; Gaucher disease]. Hollak CE; Boot RG; Poorthuis BJ; Aerts JM Ned Tijdschr Geneeskd; 2005 Sep; 149(39):2163-6. PubMed ID: 16223076 [TBL] [Abstract][Full Text] [Related]
30. Gaucher disease: report of de novo GBA mutation in a Spanish family. Alfonso P; Pocovi M; Giraldo P Blood Cells Mol Dis; 2008; 40(3):444-5. PubMed ID: 18313951 [No Abstract] [Full Text] [Related]
31. Gaucher disease in Tunisia: High frequency of the most common mutations. Cherif W; Ben Turkia H; Ben Rhouma F; Riahi I; Chemli J; Kefi R; Messai H; Amaral O; Miranda MC; Caillaud C; Tebib N; Ben Dridi MF; Abdelhak S Blood Cells Mol Dis; 2009; 43(2):161-2. PubMed ID: 19553144 [No Abstract] [Full Text] [Related]
32. Gaucher disease: complexity in a "simple" disorder. Sidransky E Mol Genet Metab; 2004; 83(1-2):6-15. PubMed ID: 15464415 [TBL] [Abstract][Full Text] [Related]
34. Gaucher disease: frequency of the N370S mutation in the Greek population. Dimitriou E; Moraitou M; Troungos C; Schulpis K; Michelakakis H Clin Genet; 2010 Aug; 78(2):195-6. PubMed ID: 20662857 [No Abstract] [Full Text] [Related]
35. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement. Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123 [TBL] [Abstract][Full Text] [Related]
36. [Type 1 Gaucher disease in a pediatric patient: 12 year's evolution]. García M; Casanova C; Chabás A; Viosca E; Martínez B Sangre (Barc); 1997 Jun; 42(3):227-9. PubMed ID: 9381267 [TBL] [Abstract][Full Text] [Related]
37. Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. He GS; Grace ME; Grabowski GA Hum Mutat; 1992; 1(5):423-7. PubMed ID: 1301953 [No Abstract] [Full Text] [Related]
38. Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. Church HJ; Cooper A; Stewart F; Thornton CM; Wraith JE Eur J Hum Genet; 2004 Nov; 12(11):975-8. PubMed ID: 15292921 [TBL] [Abstract][Full Text] [Related]