429 related articles for article (PubMed ID: 12173027)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. [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]
8. 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]
9. 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]
10. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Alfonso P; Cenarro A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
Blood Cells Mol Dis; 2001; 27(5):882-91. PubMed ID: 11783951
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical and genetic characteristics of Korean patients with Gaucher disease.
Jeong SY; Park SJ; Kim HJ
Blood Cells Mol Dis; 2011 Jan; 46(1):11-4. PubMed ID: 20729108
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Park JK; Orvisky E; Tayebi N; Kaneski C; Lamarca ME; Stubblefield BK; Martin BM; Schiffmann R; Sidransky E
Pediatr Res; 2003 Mar; 53(3):387-95. PubMed ID: 12595585
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]