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Items: 1 to 20 of 244

1.

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
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.

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
4.

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
5.

Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J.

Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):287-98.

PMID:
10744424
6.

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.

Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.

Eur J Hum Genet. 2002 Sep;10(9):511-5.

7.

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
8.

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
9.

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
10.

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
11.

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.

Am J Hum Genet. 2000 Jun;66(6):1777-86. Epub 2000 May 4.

12.

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
13.

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8.

PMID:
15967693
14.

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
15.
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.

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
18.

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
19.

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG.

Hum Mutat. 2005 Jan;25(1):100.

PMID:
15605411
20.

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

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