276 related articles for article (PubMed ID: 9554746)
21. 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]
22. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM; Ballart A; Iturriaga C; Lluch M; Macias J; Vanier MT; Pineda M; Coll MJ
Clin Genet; 2005 Sep; 68(3):245-54. PubMed ID: 16098014
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Karaca E; Kalkan S; Onay H; Aykut A; Coker M; Ozkinay F
J Pediatr Endocrinol Metab; 2012; 25(9-10):957-62. PubMed ID: 23426826
[TBL] [Abstract][Full Text] [Related]
27. Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R; Fox DC; Sobreira E; Pereira LV
Blood Cells Mol Dis; 2006; 37(3):204-9. PubMed ID: 17059888
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Sidransky E; Bottler A; Stubblefield B; Ginns EI
Hum Mutat; 1994; 3(1):25-8. PubMed ID: 8118463
[TBL] [Abstract][Full Text] [Related]
30. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Santamaria R; Michelakakis H; Moraitou M; Dimitriou E; Dominissini S; Grossi S; Sánchez-Ollé G; Chabás A; Pittis MG; Filocamo M; Vilageliu L; Grinberg D
Hum Mutat; 2008 Jun; 29(6):E58-67. PubMed ID: 18429048
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
Diaz GA; Gelb BD; Risch N; Nygaard TG; Frisch A; Cohen IJ; Miranda CS; Amaral O; Maire I; Poenaru L; Caillaud C; Weizberg M; Mistry P; Desnick RJ
Am J Hum Genet; 2000 Jun; 66(6):1821-32. PubMed ID: 10777718
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
Alfonso Palacín P; Pocoví M
Med Clin (Barc); 2011 Sep; 137 Suppl 1():17-22. PubMed ID: 22230121
[TBL] [Abstract][Full Text] [Related]
37. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Clark LN; Nicolai A; Afridi S; Harris J; Mejia-Santana H; Strug L; Cote LJ; Louis ED; Andrews H; Waters C; Ford B; Frucht S; Fahn S; Mayeux R; Ottman R; Marder K
Mov Disord; 2005 Jan; 20(1):100-3. PubMed ID: 15517591
[TBL] [Abstract][Full Text] [Related]
38. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Aharon-Peretz J; Rosenbaum H; Gershoni-Baruch R
N Engl J Med; 2004 Nov; 351(19):1972-7. PubMed ID: 15525722
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]