Willems PJ - Search Results

1

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS. Seo HC, et al. Among authors: willems pj. Hum Mol Genet. 1994 Nov;3(11):2065-6. Hum Mol Genet. 1994. PMID: 7874128 No abstract available.

2

Molecular biology of the alpha-L-fucosidase gene and fucosidosis.

O'Brien JS, Willems PJ, Fukushima H, de Wet JR, Darby JK, Di Cioccio R, Fowler ML, Shows TB. O'Brien JS, et al. Among authors: willems pj. Enzyme. 1987;38(1-4):45-53. doi: 10.1159/000469189. Enzyme. 1987. PMID: 2894306

3

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Willems PJ, Darby JK, DiCioccio RA, Nakashima P, Eng C, Kretz KA, Cavalli-Sforza LL, Shooter EM, O'Brien JS. Willems PJ, et al. Am J Hum Genet. 1988 Nov;43(5):756-63. Am J Hum Genet. 1988. PMID: 2903668 Free PMC article.

4

Intrafamilial variability in fucosidosis.

Willems PJ, Garcia CA, De Smedt MC, Martin-Jimenez R, Darby JK, Duenas DA, Granado-Villar D, O'Brien JS. Willems PJ, et al. Clin Genet. 1988 Jul;34(1):7-14. doi: 10.1111/j.1399-0004.1988.tb02608.x. Clin Genet. 1988. PMID: 3409541

5

A single-base deletion mutation in a Turkish patient with fucosidosis.

Seo HC, Kunze J, Willems PJ, Kim AH, Hanefeld F, O'Brien JS. Seo HC, et al. Among authors: willems pj. Hum Mutat. 1994;3(4):407-8. doi: 10.1002/humu.1380030416. Hum Mutat. 1994. PMID: 8081399 No abstract available.

6

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

Seo HC, Willems PJ, O'Brien JS. Seo HC, et al. Among authors: willems pj. Hum Mol Genet. 1993 Aug;2(8):1205-8. doi: 10.1093/hmg/2.8.1205. Hum Mol Genet. 1993. PMID: 8401503

7

Fucosidosis: four new mutations and a new polymorphism.

Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS. Seo HC, et al. Among authors: willems pj. Hum Mol Genet. 1993 Apr;2(4):423-9. doi: 10.1093/hmg/2.4.423. Hum Mol Genet. 1993. PMID: 8504303

8

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.

Kretz KA, Darby JK, Willems PJ, O'Brien JS. Kretz KA, et al. Among authors: willems pj. J Mol Neurosci. 1989;1(3):177-80. doi: 10.1007/BF02918904. J Mol Neurosci. 1989. PMID: 2642067

9

Fucosidosis revisited: a review of 77 patients.

Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS. Willems PJ, et al. Am J Med Genet. 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. Am J Med Genet. 1991. PMID: 2012122 Review.

10

Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

DiCioccio RA, Darby JK, Willems PJ. DiCioccio RA, et al. Among authors: willems pj. Biochem Genet. 1989 Jun;27(5-6):279-90. doi: 10.1007/BF00554163. Biochem Genet. 1989. PMID: 2803224

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

257 results

Search Page

Filters