Halley DJ - Search Results

1

Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients.

Jansen H, Verhoeven AJ, Weeks L, Kastelein JJ, Halley DJ, van den Ouweland A, Jukema JW, Seidell JC, Birkenhäger JC. Jansen H, et al. Among authors: halley dj. Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):2837-42. doi: 10.1161/01.atv.17.11.2837. Arterioscler Thromb Vasc Biol. 1997. PMID: 9409263

2

Identification of the L927P and delta L1260 mutations in the CFTR gene.

Hermans CJ, Veeze HJ, Drexhage VR, Halley DJ, van den Ouweland AM. Hermans CJ, et al. Among authors: halley dj. Hum Mol Genet. 1994 Jul;3(7):1199-200. doi: 10.1093/hmg/3.7.1199. Hum Mol Genet. 1994. PMID: 7526927 No abstract available.

3

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

Halley D, Van Den Ouweland A, Deelen W, Verma I, Oostra B. Halley D, et al. Am J Med Genet. 1994 Jul 15;51(4):471-3. doi: 10.1002/ajmg.1320510435. Am J Med Genet. 1994. PMID: 7943022

4

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A. van Slegtenhorst M, et al. J Med Genet. 1999 Apr;36(4):285-9. J Med Genet. 1999. PMID: 10227394 Free PMC article.

5

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1.

Nauta J, Goedbloed MA, Luider TM, Hoogeveen AT, van den Ouweland AM, Halley DJ. Nauta J, et al. Among authors: halley dj. Lab Anim. 1997 Jul;31(3):241-7. doi: 10.1258/002367797780596347. Lab Anim. 1997. PMID: 9230505

6

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Among authors: halley dj. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.

7

Screening with the FMR1 protein test among mentally retarded males.

de Vries BB, Mohkamsing S, van den Ouweland AM, Halley DJ, Niermeijer MF, Oostra BA, Willemsen R. de Vries BB, et al. Among authors: halley dj. Hum Genet. 1998 Oct;103(4):520-2. doi: 10.1007/s004390050860. Hum Genet. 1998. PMID: 9856500

8

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.

Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM. Wang Q, et al. Among authors: halley dj. Hum Mutat. 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215407

9

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

van den Ouweland AM, Deelen WH, Kunst CB, Uzielli ML, Nelson DL, Warren ST, Oostra BA, Halley DJ. van den Ouweland AM, et al. Among authors: halley dj. Hum Mol Genet. 1994 Oct;3(10):1823-7. doi: 10.1093/hmg/3.10.1823. Hum Mol Genet. 1994. PMID: 7849707

10

DNA testing for fragile X syndrome: implications for parents and family.

van Rijn MA, de Vries BB, Tibben A, van den Ouweland AM, Halley DJ, Niermeijer MF. van Rijn MA, et al. Among authors: halley dj. J Med Genet. 1997 Nov;34(11):907-11. doi: 10.1136/jmg.34.11.907. J Med Genet. 1997. PMID: 9391884 Free PMC article.

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