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Items: 1 to 20 of 155

1.

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M.

Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16.

PMID:
21087600
2.

High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.

Torralba MA, Alfonso P, Pérez-Calvo JI, Cenarro A, Pastores GM, Giraldo P, Civeira F, Pocoví M.

Blood Cells Mol Dis. 2002 Jul-Aug;29(1):35-40.

PMID:
12482401
4.

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
5.

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
6.

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
7.

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
8.
9.

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8.

PMID:
17689991
10.

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
11.

Genetic and clinical features of patients with Gaucher disease in Hungary.

Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L.

Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23. Epub 2007 Mar 28.

PMID:
17395504
12.

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.

Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.

Blood Cells Mol Dis. 2001 Mar-Apr;27(2):489-95. Erratum in: Blood Cells Mol Dis 2001 May-Jun;27(3):713.

PMID:
11259172
13.

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
14.

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
15.

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

Aharon-Peretz J, Badarny S, Rosenbaum H, Gershoni-Baruch R.

Neurology. 2005 Nov 8;65(9):1460-1. Epub 2005 Sep 7.

PMID:
16148263
16.

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
17.

[Genetics of Gaucher's disease. Genotype-phenotype correlation].

Alfonso Palacín P, Pocoví M.

Med Clin (Barc). 2011 Sep;137 Suppl 1:17-22. doi: 10.1016/S0025-7753(11)70012-4. Spanish.

PMID:
22230121
18.

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group..

Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14.

PMID:
20947659
19.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

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

PMID:
15464415
20.

Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.

Alfonso P, Rodríguez-Rey JC, Gañán A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.

Blood Cells Mol Dis. 2004 Jan-Feb;32(1):218-25.

PMID:
14757438

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