465 related articles for article (PubMed ID: 10796875)
1. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V; Stone DL; Park JK; Callahan M; Frisch A; Cohen IJ; Tayebi N; Sidransky E
Am J Hum Genet; 2000 Jun; 66(6):1777-86. PubMed ID: 10796875
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
Park JK; Koprivica V; Andrews DQ; Madike V; Tayebi N; Stone DL; Sidransky E
Am J Med Genet; 2001 Mar; 99(2):147-51. PubMed ID: 11241475
[TBL] [Abstract][Full Text] [Related]
4. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
Hodanová K; Hrebícek M; Cervenková M; Mrázová L; Vepreková L; Zemen J
Blood Cells Mol Dis; 1999; 25(5-6):287-98. PubMed ID: 10744424
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Gaucher disease: gene frequencies and genotype/phenotype correlations.
Grabowski GA
Genet Test; 1997; 1(1):5-12. PubMed ID: 10464619
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Lau EK; Tayebi N; Ingraham LJ; Winfield SL; Koprivica V; Stone DL; Zimran A; Ginns EI; Sidransky E
Hum Genet; 1999 Apr; 104(4):293-300. PubMed ID: 10369158
[TBL] [Abstract][Full Text] [Related]
12. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
Zimran A; Horowitz M
Am J Med Genet; 1994 Mar; 50(1):74-8. PubMed ID: 8160756
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
Horowitz M; Tzuri G; Eyal N; Berebi A; Kolodny EH; Brady RO; Barton NW; Abrahamov A; Zimran A
Am J Hum Genet; 1993 Oct; 53(4):921-30. PubMed ID: 8213821
[TBL] [Abstract][Full Text] [Related]
15. Gaucher disease in Spanish patients: analysis of eight mutations.
Cormand B; Vilageliu L; Burguera JM; Balcells S; Gonzàlez-Duarte R; Grinberg D; Chabás A
Hum Mutat; 1995; 5(4):303-9. PubMed ID: 7627184
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
Cormand B; Harboe TL; Gort L; Campoy C; Blanco M; Chamoles N; Chabás A; Vilageliu L; Grinberg D
Am J Med Genet; 1998 Dec; 80(4):343-51. PubMed ID: 9856561
[TBL] [Abstract][Full Text] [Related]
19. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
Horovenko NH; Ol'khovych NV; Nedoboĭ AM; Pichkur NO
Tsitol Genet; 2007; 41(4):41-7. PubMed ID: 18030725
[TBL] [Abstract][Full Text] [Related]
20. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
Germain DP; Puech JP; Caillaud C; Kahn A; Poenaru L
Am J Hum Genet; 1998 Aug; 63(2):415-27. PubMed ID: 9683600
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
