Darby JK - Search Results

1

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al. Coucke P, et al. Among authors: darby jk. N Engl J Med. 1994 Aug 18;331(7):425-31. doi: 10.1056/NEJM199408183310702. N Engl J Med. 1994. PMID: 8035838 Free article.

2

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

3

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.

4

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.

5

Genetic analysis of eight loci tightly linked to neurofibromatosis 1.

Stephens K, Green P, Riccardi VM, Ng S, Rising M, Barker D, Darby JK, Falls KM, Collins FS, Willard HF, et al. Stephens K, et al. Among authors: darby jk. Am J Hum Genet. 1989 Jan;44(1):13-9. Am J Hum Genet. 1989. PMID: 2491775 Free PMC article.

6

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ. Vits L, et al. Among authors: darby jk. Hum Genet. 1994 Nov;94(5):523-6. doi: 10.1007/BF00211019. Hum Genet. 1994. PMID: 7959688

7

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.

8

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJ, Jorens HZ, Darby JK, Oostra B, et al. Reyniers E, et al. Among authors: darby jk. Nat Genet. 1993 Jun;4(2):143-6. doi: 10.1038/ng0693-143. Nat Genet. 1993. PMID: 8348152

9

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

10

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

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