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Items: 1 to 20 of 153

1.

Gaucher disease in Tunisia: High frequency of the most common mutations.

Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Kefi R, Messai H, Amaral O, Miranda MC, Caillaud C, Tebib N, Ben Dridi MF, Abdelhak S.

Blood Cells Mol Dis. 2009 Sep-Oct;43(2):161-2. doi: 10.1016/j.bcmd.2009.05.004. Epub 2009 Jun 23. No abstract available.

PMID:
19553144
2.

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.

García-Rodríguez B, Alfonso P, Mallén M, Pocoví M, Giraldo P.

Clin Genet. 2012 May;81(5):495-7. doi: 10.1111/j.1399-0004.2011.01757.x. Epub 2011 Dec 28. No abstract available.

PMID:
22220748
3.

[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].

Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO.

Tsitol Genet. 2007 Jul-Aug;41(4):41-7. Ukrainian.

PMID:
18030725
4.

[An analysis of mutations causing Gaucher disease in Chinese population].

Zhang WM, Tang NL, Meng Y, Yao FX, Qiu ZQ, Duan YL, Huang SZ, Shi HP.

Zhonghua Yi Xue Za Zhi. 2009 Dec 29;89(48):3397-400. Chinese.

PMID:
20223112
5.

[Molecular diagnosis of Gaucher disease in Tunisia].

Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi MF.

Pathol Biol (Paris). 2013 Apr;61(2):59-63. doi: 10.1016/j.patbio.2012.03.006. Epub 2012 Apr 27. French.

PMID:
22542428
6.

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
7.

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
8.

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
9.

[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].

Cherif W, Ben Turkia H, Tebib N, Amaral O, Ben Rhouma F, Abdelmoula MS, Azzouz H, Caillaud C, Sà Miranda MC, Abdelhak S, Ben Dridi MF.

Arch Inst Pasteur Tunis. 2007;84(1-4):65-70. French.

PMID:
19388585
10.

[Biochemical and molecular diagnosis of Gaucher disease in Tunisia].

Dandana A, Ferchichi S, Khedhiri S, Chkioua L, Jaidane Z, Monastiri K, Ben Khelifa S, Ben Mansour R, Maire I, Froissart R, Bonnet V, Laradi S, Miled A.

Ann Biol Clin (Paris). 2007 Nov-Dec;65(6):647-52. French.

11.

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
12.

Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray.

Ezgu F, Hasanoglu A, Okur I, Biberoglu G, Tumer L, Eminoglu T, Dogan H.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):246-7. Epub 2007 Nov 26. No abstract available.

PMID:
18035560
13.

Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.

Rockah R, Narinsky R, Hatskelzon L, Frisch A.

Am J Med Genet. 1997 Oct 3;72(1):77-8.

PMID:
9295080
14.

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ.

Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. Epub 2006 Mar 20.

PMID:
16546416
15.

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y.

J Inherit Metab Dis. 1997 Mar;20(1):67-73.

PMID:
9061570
16.

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L.

Hum Genet. 2003 Apr;112(4):426-9. Epub 2003 Feb 14.

PMID:
12589426
17.

Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.

Zhao H, Bailey LA, Elsas LJ 2nd, Grinzaid KA, Grabowski GA.

Am J Med Genet A. 2003 Jan 1;116A(1):52-6.

PMID:
12476451
18.

Identification of Gaucher disease mutations found in Saudi Arabia.

Kaya N, Al-Zahrani F, Al-Odaib A, Rahbeeni Z, Al-Hassnan Z, Al-Sharif F, Ozand P, Al-Sayed M.

Blood Cells Mol Dis. 2008 Sep-Oct;41(2):200-1. doi: 10.1016/j.bcmd.2008.05.002. Epub 2008 Jun 30. No abstract available.

PMID:
18586535
19.

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda MC.

Hum Mutat. 1996;8(3):280-1. No abstract available.

PMID:
8889591
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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