Willems PJ - Search Results

1

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.

2

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.

3

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

4

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

5

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

6

Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

Darby JK, Willems PJ, Nakashima P, Johnsen J, Ferrell RE, Wijsman EM, Gerhard DS, Dracopoli NC, Housman D, Henke J, et al. Darby JK, et al. Among authors: willems pj. Am J Hum Genet. 1988 Nov;43(5):749-55. Am J Hum Genet. 1988. PMID: 2903667 Free PMC article.

7

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

8

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.

9

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.

10

A 5' splice site mutation in fucosidosis.

Williamson M, Cragg H, Grant J, Kretz K, O'Brien J, Willems PJ, Young E, Winchester B. Williamson M, et al. Among authors: willems pj. J Med Genet. 1993 Mar;30(3):218-23. doi: 10.1136/jmg.30.3.218. J Med Genet. 1993. PMID: 8097260 Free PMC article.

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