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Results: 1 to 20 of 67

1.

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. Review.

PMID:
10649495
[PubMed - indexed for MEDLINE]
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 May-Jun;38(3):287-93. Epub 2006 Dec 29. Review.

PMID:
17196853
[PubMed - indexed for MEDLINE]
3.

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N, Stone DL, Sidransky E.

Am J Med Genet. 2001 Mar 1;99(2):147-51. Review.

PMID:
11241475
[PubMed - indexed for MEDLINE]
4.

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. Review.

PMID:
11112377
[PubMed - indexed for MEDLINE]
5.

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D.

Am J Med Genet. 1998 Dec 4;80(4):343-51. Review.

PMID:
9856561
[PubMed - indexed for MEDLINE]
6.

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS, LaMarca ME, Scott CR, Sidransky E.

Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Review.

PMID:
18338393
[PubMed - indexed for MEDLINE]
7.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.

PMID:
15464415
[PubMed - indexed for MEDLINE]
8.

Genotype-phenotype pitfalls in Gaucher disease.

Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT.

J Clin Lab Anal. 1994;8(4):228-36. Review.

PMID:
7931818
[PubMed - indexed for MEDLINE]
9.

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.

Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P; Spanish Gaucher's Disease Registry.

J Hum Genet. 2007;52(5):391-6. Epub 2007 Apr 11. Review.

PMID:
17427031
[PubMed - indexed for MEDLINE]
10.

[Gaucher disease: clinical, genetic and therapeutic aspects].

Germain DP.

Pathol Biol (Paris). 2004 Jul;52(6):343-50. Review. French.

PMID:
15261378
[PubMed - indexed for MEDLINE]
11.

The role of neurogenetics in Gaucher disease.

Brady RO, Barton NW, Grabowski GA.

Arch Neurol. 1993 Nov;50(11):1212-24. Review.

PMID:
8215980
[PubMed - indexed for MEDLINE]
12.

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.

Eblan MJ, Goker-Alpan O, Sidransky E.

Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.

PMID:
16396828
[PubMed - indexed for MEDLINE]
13.

Gaucher disease: gene frequencies and genotype/phenotype correlations.

Grabowski GA.

Genet Test. 1997;1(1):5-12. Review.

PMID:
10464619
[PubMed - indexed for MEDLINE]
14.

Mutations causing Gaucher disease.

Horowitz M, Zimran A.

Hum Mutat. 1994;3(1):1-11. Review.

PMID:
8118460
[PubMed - indexed for MEDLINE]
15.

[From gene to disease; Gaucher disease].

Hollak CE, Boot RG, Poorthuis BJ, Aerts JM.

Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2163-6. Review. Dutch.

PMID:
16223076
[PubMed - indexed for MEDLINE]
16.

[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

Caillaud C, Poenaru L.

J Soc Biol. 2002;196(2):135-40. Review. French.

PMID:
12360742
[PubMed - indexed for MEDLINE]
17.

Molecular aspects of Gaucher disease.

Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny EH, Zimran A, Horowitz M.

Dev Neurosci. 1991;13(4-5):352-62. Review.

PMID:
1817042
[PubMed - indexed for MEDLINE]
18.

[Molecular genetic approaches to neurologic diseases].

Tsuji S.

Rinsho Shinkeigaku. 1989 Dec;29(12):1550-3. Review. Japanese.

PMID:
2698300
[PubMed - indexed for MEDLINE]
19.

Gaucher disease.

Guggenbuhl P, Grosbois B, Chalès G.

Joint Bone Spine. 2008 Mar;75(2):116-24. Epub 2007 Aug 31. Review.

PMID:
17996473
[PubMed - indexed for MEDLINE]
20.

Laboratory and genetic evaluation of Gaucher disease.

Bodamer OA, Hung C.

Wien Med Wochenschr. 2010 Dec;160(23-24):600-4. doi: 10.1007/s10354-010-0814-1. Epub 2010 Aug 16. Review.

PMID:
20714811
[PubMed - indexed for MEDLINE]

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