157 related articles for article (PubMed ID: 25558695)
1. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
Bronstein S; Karpati M; Peleg L
Isr Med Assoc J; 2014 Nov; 16(11):683-5. PubMed ID: 25558695
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.
Peleg L; Pesso R; Goldman B; Dotan K; Omer M; Friedman E; Berkenstadt M; Reznik-Wolf H; Barkai G
Isr Med Assoc J; 2002 Feb; 4(2):95-7. PubMed ID: 11876000
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
Rodríguez-Marí A; Díaz-Font A; Chabás A; Pastores GM; Grinberg D; Vilageliu L
Blood Cells Mol Dis; 2001; 27(5):950-9. PubMed ID: 11783960
[TBL] [Abstract][Full Text] [Related]
7. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
Zimran A; Gelbart T; Westwood B; Grabowski GA; Beutler E
Am J Hum Genet; 1991 Oct; 49(4):855-9. PubMed ID: 1897529
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.
Roa BB; Boyd AA; Volcik K; Richards CS
Nat Genet; 1996 Oct; 14(2):185-7. PubMed ID: 8841191
[TBL] [Abstract][Full Text] [Related]
10. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
Lacerda L; Amaral O; Pinto R; Oliveira P; Aerts J; Sá Miranda MC
Clin Genet; 1994 Jun; 45(6):298-300. PubMed ID: 7923859
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Frequency of the Gaucher mutation among recent Russian immigrants].
Hodish I; Elstein D; Abrahamov A; Lonshakova N; Zimran A
Harefuah; 1995 Jun; 128(12):757-8, 824. PubMed ID: 7557682
[TBL] [Abstract][Full Text] [Related]
13. The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.
Kenet G; Hayek S; Mor M; Lubetsky A; Miller L; Rosenberg N; Mosheiff R; Itzchaki M; Elstein D; Wientroub S; Zimran A
Blood Cells Mol Dis; 2003; 31(1):72-4. PubMed ID: 12850487
[TBL] [Abstract][Full Text] [Related]
14. The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
Brautbar A; Elstein D; Abrahamov A; Zeigler M; Chicco G; Beutler E; Scott CR; Zimran A
Blood Cells Mol Dis; 2003; 31(2):187-9; discussion 190-1. PubMed ID: 12972024
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Aviner S; Garty BZ; Rachmel A; Baris HN; Sidransky E; Shuffer A; Attias J; Yaniv Y; Cohen IJ
Blood Cells Mol Dis; 2009; 43(3):294-7. PubMed ID: 19734074
[TBL] [Abstract][Full Text] [Related]
17. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease.
Halperin A; Elstein D; Zimran A
Blood Cells Mol Dis; 2006; 36(3):426-8. PubMed ID: 16651014
[TBL] [Abstract][Full Text] [Related]
18. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
Matoth Y; Chazan S; Cnaan A; Gelernter I; Klibansky C
Am J Med Genet; 1987 Jul; 27(3):561-5. PubMed ID: 3631130
[TBL] [Abstract][Full Text] [Related]
19. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
Rockah R; Narinsky R; Frydman M; Cohen IJ; Zaizov R; Weizman A; Frisch A
Am J Med Genet; 1998 Jul; 78(3):233-6. PubMed ID: 9677056
[TBL] [Abstract][Full Text] [Related]
20. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
Boas FE
Blood Cells Mol Dis; 2000 Aug; 26(4):348-59. PubMed ID: 11042036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]