Amaral O - Search Results

1

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Diaz GA, et al. Among authors: amaral o. Am J Hum Genet. 2000 Jun;66(6):1821-32. doi: 10.1086/302946. Epub 2000 Apr 21. Am J Hum Genet. 2000. PMID: 10777718 Free PMC article.

2

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.

Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME. Amaral O, et al. Eur J Hum Genet. 2000 Feb;8(2):95-102. doi: 10.1038/sj.ejhg.5200422. Eur J Hum Genet. 2000. PMID: 10757640

3

[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. Cherif W, et al. Among authors: amaral o. Arch Inst Pasteur Tunis. 2007;84(1-4):65-70. Arch Inst Pasteur Tunis. 2007. PMID: 19388585 French.

4

[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. Cherif W, et al. Among authors: amaral o. Pathol Biol (Paris). 2013 Apr;61(2):59-63. doi: 10.1016/j.patbio.2012.03.006. Epub 2012 Apr 27. Pathol Biol (Paris). 2013. PMID: 22542428 French.

5

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. Cherif W, et al. Among authors: amaral o. Blood Cells Mol Dis. 2009 Sep-Oct;43(2):161-2. doi: 10.1016/j.bcmd.2009.05.004. Epub 2009 Jun 23. Blood Cells Mol Dis. 2009. PMID: 19553144 No abstract available.

6

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.

Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC. Lacerda L, et al. Among authors: amaral o. Clin Genet. 1994 Jun;45(6):298-300. doi: 10.1111/j.1399-0004.1994.tb04034.x. Clin Genet. 1994. PMID: 7923859

7

Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

Amaral O, Marcão A, Pinto E, Zimran A, Miranda MC. Amaral O, et al. Blood Cells Mol Dis. 1997 Dec;23(3):415-6. doi: 10.1006/bcmd.1997.0159. Blood Cells Mol Dis. 1997. PMID: 9446756

8

T cell numbers relate to bone involvement in Gaucher disease.

Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Lacerda L, et al. Among authors: amaral o. Blood Cells Mol Dis. 1999 Apr;25(2):130-8. doi: 10.1006/bcmd.1999.0237. Blood Cells Mol Dis. 1999. PMID: 10389595 Free article.

9

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC. Amaral O, et al. J Med Genet. 1994 May;31(5):401-4. doi: 10.1136/jmg.31.5.401. J Med Genet. 1994. PMID: 8064820 Free PMC article.

10

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.

Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC. Lacerda L, et al. Among authors: amaral o. J Inherit Metab Dis. 1994;17(1):85-8. doi: 10.1007/BF00735401. J Inherit Metab Dis. 1994. PMID: 8051940

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