226 related articles for article (PubMed ID: 8985494)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
Choy FY; Woo M; Der Kaloustian VM
Am J Med Genet; 1991 Jun; 39(4):466-71. PubMed ID: 1877626
[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. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
Pomponio RJ; Cabrera-Salazar MA; Echeverri OY; Miller G; Barrera LA
Mol Genet Metab; 2005 Dec; 86(4):466-72. PubMed ID: 16185907
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Identification of six new Gaucher disease mutations.
Beutler E; Gelbart T; West C
Genomics; 1993 Jan; 15(1):203-5. PubMed ID: 8432537
[TBL] [Abstract][Full Text] [Related]
18. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Orvisky E; Park JK; Parker A; Walker JM; Martin BM; Stubblefield BK; Uyama E; Tayebi N; Sidransky E
Hum Mutat; 2002 Apr; 19(4):458-9. PubMed ID: 11933202
[TBL] [Abstract][Full Text] [Related]
19. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
Choy FY; Wei C; Applegarth DA; McGillivray BC
Am J Med Genet; 1994 Jun; 51(2):156-60. PubMed ID: 7916532
[TBL] [Abstract][Full Text] [Related]
20. [Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].
Dandana A; Ferchichi S; Ben Khelifa S; Jaidane Z; Monastiri K; Chkioua L; Maire I; Froissart R; Bonnet V; Laradi S; Miled A
Pathol Biol (Paris); 2008 Mar; 56(2):88-93. PubMed ID: 18178337
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]