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1.

Functional analysis of 11 novel GBA alleles.

Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A.

Eur J Hum Genet. 2014 Apr;22(4):511-6. doi: 10.1038/ejhg.2013.182. Epub 2013 Sep 11.

2.

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. Erratum in: Hum Mutat. 2005 Sep;26(3):276.

PMID:
15146461
3.

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
4.

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ.

J Clin Invest. 1999 Mar;103(6):817-23.

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. Review.

PMID:
10649495
6.

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
7.

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
8.

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
9.

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
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.

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
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.

Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.

Concolino D, Mussari A, Filocamo M, Strisciuglio P.

Clin Genet. 2003 Sep;64(3):261-2. Review. No abstract available.

PMID:
12919144
14.

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
15.

[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].

Bukina TM, Tsvetkova IV.

Biomed Khim. 2007 Sep-Oct;53(5):593-602. Russian.

PMID:
18078074
16.

A common and two novel GBA mutations in Thai patients with Gaucher disease.

Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V.

J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30.

PMID:
23719189
17.

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
18.

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
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.

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):268-76.

PMID:
16039881
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