247 related articles for article (PubMed ID: 16887033)
1. 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]
2. 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]
3. 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]
4. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
Tayebi N; Stern H; Dymarskaia I; Herman J; Sidransky E
Am J Med Genet; 1996 Dec; 66(3):316-9. PubMed ID: 8985494
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
Wafaei JR; Choy FY
Blood Cells Mol Dis; 2005; 35(2):277-85. PubMed ID: 16102985
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
Balwani M; Grace ME; Desnick RJ
J Inherit Metab Dis; 2011 Jun; 34(3):789-93. PubMed ID: 21431620
[TBL] [Abstract][Full Text] [Related]
12. Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis.
Finckh U; Seeman P; von Widdern OC; Rolfs A
DNA Seq; 1998; 8(6):349-56. PubMed ID: 10728820
[TBL] [Abstract][Full Text] [Related]
13. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
Sinclair G; Choy FY; Humphries L
Blood Cells Mol Dis; 1998 Dec; 24(4):420-7. PubMed ID: 9851895
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
Mao R; O'Brien JF; Rao S; Schmitt E; Roa B; Feldman GL; Spence WC; Snow K
Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
