Caillaud C - 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: caillaud c. 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

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Germain DP, et al. Among authors: caillaud c. Am J Hum Genet. 1998 Aug;63(2):415-27. doi: 10.1086/301969. Am J Hum Genet. 1998. PMID: 9683600 Free PMC article.

3

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. Drugan C, et al. Among authors: caillaud c. Eur J Hum Genet. 2002 Sep;10(9):511-5. doi: 10.1038/sj.ejhg.5200845. Eur J Hum Genet. 2002. PMID: 12173027

4

[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

Caillaud C, Poenaru L. Caillaud C, et al. J Soc Biol. 2002;196(2):135-40. J Soc Biol. 2002. PMID: 12360742 Review. French.

5

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

Germain DP, Salard D, Fellmann F, Azibi K, Caillaud C, Bernard MC, Poenaru L. Germain DP, et al. Among authors: caillaud c. Hum Mutat. 2001 Apr;17(4):353. doi: 10.1002/humu.41. Hum Mutat. 2001. PMID: 11295840 No abstract available.

6

[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: caillaud c. Arch Inst Pasteur Tunis. 2007;84(1-4):65-70. Arch Inst Pasteur Tunis. 2007. PMID: 19388585 French.

7

[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: caillaud c. 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.

8

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.

Guidotti JE, Mignon A, Haase G, Caillaud C, McDonell N, Kahn A, Poenaru L. Guidotti JE, et al. Among authors: caillaud c. Hum Mol Genet. 1999 May;8(5):831-8. doi: 10.1093/hmg/8.5.831. Hum Mol Genet. 1999. PMID: 10196372

9

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C. Draghia R, et al. Among authors: caillaud c. Hum Mutat. 1997;9(3):234-42. doi: 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9090526

10

Gene therapy in lysosomal diseases.

Caillaud C, Poenaru L. Caillaud C, et al. Biomed Pharmacother. 2000 Oct;54(10):505-12. doi: 10.1016/s0753-3322(00)00009-3. Biomed Pharmacother. 2000. PMID: 11130848 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

264 results

Search Page