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Items: 1 to 20 of 469

1.

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
2.

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 Jul-Aug;51(4):315-21. doi: 10.1016/j.ejmg.2008.02.004. Epub 2008 Mar 4.

PMID:
18586596
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. Review.

PMID:
10649495
4.
5.

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.

Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D.

Proteins. 2008 Feb 15;70(3):882-91.

PMID:
17803231
6.

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.

PMID:
11933202
7.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

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

PMID:
15464415
8.

Clinical and genetic characteristics of Korean patients with Gaucher disease.

Jeong SY, Park SJ, Kim HJ.

Blood Cells Mol Dis. 2011 Jan 15;46(1):11-4. doi: 10.1016/j.bcmd.2010.07.010. Epub 2010 Aug 21.

PMID:
20729108
9.

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. Epub 2005 Sep 26.

PMID:
16185907
10.

The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E.

Clin Genet. 2002 Jan;61(1):32-4.

PMID:
11903352
11.

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 7;78(3):233-6.

PMID:
9677056
12.
13.

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
14.

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E.

Am J Hum Genet. 2003 Mar;72(3):519-34. Epub 2003 Feb 13.

15.

Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.

Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F.

J Pediatr Endocrinol Metab. 2012;25(9-10):957-62. doi: 10.1515/jpem-2012-0155.

PMID:
23426826
16.

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 Sep-Oct;27(5):882-91.

PMID:
11783951
17.

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.

PMID:
9635296
18.

[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
19.

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.

Jeong SY, Kim SJ, Yang JA, Hong JH, Lee SJ, Kim HJ.

J Hum Genet. 2011 Jun;56(6):469-71. doi: 10.1038/jhg.2011.37. Epub 2011 Apr 14. Erratum in: J Hum Genet. 2011 Oct;56(10):753-4.

PMID:
21490608
20.

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.

PMID:
11241841
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