286 related articles for article (PubMed ID: 11112377)
21. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
Cormand B; Grinberg D; Gort L; Chabás A; Vilageliu L
Hum Mutat; 1998; 11(4):295-305. PubMed ID: 9554746
[TBL] [Abstract][Full Text] [Related]
22. Prevalent and rare mutations among Gaucher patients.
Eyal N; Wilder S; Horowitz M
Gene; 1990 Dec; 96(2):277-83. PubMed ID: 2269438
[TBL] [Abstract][Full Text] [Related]
23. Mutations causing Gaucher disease.
Horowitz M; Zimran A
Hum Mutat; 1994; 3(1):1-11. PubMed ID: 8118460
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. [Molecular genetic approaches to neurologic diseases].
Tsuji S
Rinsho Shinkeigaku; 1989 Dec; 29(12):1550-3. PubMed ID: 2698300
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Tayebi N; Callahan M; Madike V; Stubblefield BK; Orvisky E; Krasnewich D; Fillano JJ; Sidransky E
Mol Genet Metab; 2001 Aug; 73(4):313-21. PubMed ID: 11509013
[TBL] [Abstract][Full Text] [Related]
29. Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
Brown JT; Lahey C; Laosinchai-Wolf W; Hadd AG
BMC Med Genet; 2006 Aug; 7():69. PubMed ID: 16887033
[TBL] [Abstract][Full Text] [Related]
30. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
Tayebi N; Stubblefield BK; Park JK; Orvisky E; Walker JM; LaMarca ME; Sidransky E
Am J Hum Genet; 2003 Mar; 72(3):519-34. PubMed ID: 12587096
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
Beutler E; Gelbart T
Hum Mutat; 1994; 4(3):212-6. PubMed ID: 7833951
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Cormand B; Montfort M; Chabás A; Grinberg D; Vilageliu LL
Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Boot RG; Hollak CE; Verhoek M; Sloof P; Poorthuis BJ; Kleijer WJ; Wevers RA; van Oers MH; Mannens MM; Aerts JM; van Weely S
Hum Mutat; 1997; 10(5):348-58. PubMed ID: 9375849
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Dominissini S; Buratti E; Bembi B; Baralle M; Pittis MG
Hum Mutat; 2006 Jan; 27(1):119. PubMed ID: 16329099
[TBL] [Abstract][Full Text] [Related]
40. Clinical and molecular aspects of Gaucher disease in New Zealand.
Woodfield MJ; Woodfield DG; Winship IM
N Z Med J; 1997 Aug; 110(1050):316-9. PubMed ID: 9315031
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
