Darby JK - Search Results

1

BclI RFLP in fucosidase pseudogene (FUCA1P).

Willems PJ, Carritt B, Coucke P, Darby JK, Van der Auwera BJ, O'Brien JS. Willems PJ, et al. Among authors: darby jk. Nucleic Acids Res. 1990 Sep 25;18(18):5583. doi: 10.1093/nar/18.18.5583-a. Nucleic Acids Res. 1990. PMID: 1977129 Free PMC article.

2

Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1).

Darby JK, Johnsen J, Nakashima P, Willems PJ, O'Brien JS, Fowler ML, Shows TB, Shooter EM, Cavalli-Sforza LL. Darby JK, et al. Nucleic Acids Res. 1986 Dec 9;14(23):9543. doi: 10.1093/nar/14.23.9543. Nucleic Acids Res. 1986. PMID: 2879270 Free PMC article. No abstract available.

3

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. Am J Hum Genet. 1988 Nov;43(5):749-55. Am J Hum Genet. 1988. PMID: 2903667 Free PMC article.

4

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

Van Camp G, Vits L, Coucke P, Lyonnet S, Schrander-Stumpel C, Darby J, Holden J, Munnich A, Willems PJ. Van Camp G, et al. Nat Genet. 1993 Aug;4(4):421-5. doi: 10.1038/ng0893-421. Nat Genet. 1993. PMID: 8401593

5

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. Among authors: darby jk. Am J Med Genet. 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. Am J Med Genet. 1991. PMID: 2012122 Review.

6

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: darby jk. Biochem Genet. 1989 Jun;27(5-6):279-90. doi: 10.1007/BF00554163. Biochem Genet. 1989. PMID: 2803224

7

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: darby jk. Enzyme. 1987;38(1-4):45-53. doi: 10.1159/000469189. Enzyme. 1987. PMID: 2894306

8

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. Among authors: darby jk. Am J Hum Genet. 1988 Nov;43(5):756-63. Am J Hum Genet. 1988. PMID: 2903668 Free PMC article.

9

Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

Welch HM, Darby JK, Pilz AJ, Ko CM, Carritt B. Welch HM, et al. Among authors: darby jk. Genomics. 1989 Oct;5(3):423-30. doi: 10.1016/0888-7543(89)90005-0. Genomics. 1989. PMID: 2575580

10

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. Among authors: darby jk. Clin Genet. 1988 Jul;34(1):7-14. doi: 10.1111/j.1399-0004.1988.tb02608.x. Clin Genet. 1988. PMID: 3409541

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