179 related articles for article (PubMed ID: 18429048)
1. 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]
2. 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]
3. 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]
4. 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]
5. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M; Chabás A; Vilageliu L; Grinberg D
Hum Mutat; 2004 Jun; 23(6):567-75. PubMed ID: 15146461
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.
Michelakakis H; Moraitou M; Dimitriou E; Santamaria R; Sanchez G; Gort L; Chabas A; Grinberg D; Dassopoulou M; Fotopoulos S; Vilageliu L
J Inherit Metab Dis; 2006 Aug; 29(4):591. PubMed ID: 16830265
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
Chabás A; Gort L; Montfort M; Castelló F; Domínguez MC; Grinberg D; Vilageliu L
J Med Genet; 1998 Sep; 35(9):775-7. PubMed ID: 9733040
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
Martínez-Arias R; Comas D; Mateu E; Bertranpetit J
Hum Mutat; 2001 Mar; 17(3):191-8. PubMed ID: 11241841
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort M; Chabás A; Vilageliu L; Grinberg D
Blood Cells Mol Dis; 2006; 36(1):46-52. PubMed ID: 16326120
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype].
Wilches R; Vega H; Echeverri O; Barrera LA
Biomedica; 2006 Sep; 26(3):434-41. PubMed ID: 17176007
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
