Wake S - Search Results

1

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.

Dahl HH, Wake S, Cotton RG, Danks DM. Dahl HH, et al. Among authors: wake s. J Med Genet. 1988 Jan;25(1):25-8. doi: 10.1136/jmg.25.1.25. J Med Genet. 1988. PMID: 2895188 Free PMC article.

2

NcoI and HinfI RFLPs detected with a dihydropteridine reductase cDNA probe.

Wake S, Hutchison W, Dahl HH. Wake S, et al. Nucleic Acids Res. 1988 Apr 11;16(7):3124. doi: 10.1093/nar/16.7.3124. Nucleic Acids Res. 1988. PMID: 2897117 Free PMC article.

3

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

Dahl HH, Hutchison W, McAdam W, Wake S, Morgan FJ, Cotton RG. Dahl HH, et al. Among authors: wake s. Nucleic Acids Res. 1987 Mar 11;15(5):1921-32. doi: 10.1093/nar/15.5.1921. Nucleic Acids Res. 1987. PMID: 3031582 Free PMC article.

4

Developmental variation in copper, zinc and metallothionein mRNA in brindled mutant and nutritionally copper deficient mice.

Mercer JF, Stevenson T, Wake SA, Mitropoulos G, Camakaris J, Danks DM. Mercer JF, et al. Among authors: wake sa. Biochim Biophys Acta. 1991 Oct 21;1097(3):205-11. doi: 10.1016/0925-4439(91)90036-9. Biochim Biophys Acta. 1991. PMID: 1681908

5

Analysis of DNA probes for the prenatal diagnosis of cystic fibrosis.

Dry PJ, Wake S, Robertson CF, Colley P, Sheffield LJ. Dry PJ, et al. Among authors: wake s. Med J Aust. 1989 Aug 7;151(3):131, 133-6. Med J Aust. 1989. PMID: 2569157

6

A study of the role of metallothionein in the inherited copper toxicosis of dogs.

Hunt DM, Wake SA, Mercer JF, Danks DM. Hunt DM, et al. Among authors: wake sa. Biochem J. 1986 Jun 1;236(2):409-15. doi: 10.1042/bj2360409. Biochem J. 1986. PMID: 3753456 Free PMC article.

7

Informed choice in fragile X syndrome and its effects on prevalence.

Robinson H, Wake S, Wright F, Laing S, Turner G. Robinson H, et al. Among authors: wake s. Am J Med Genet. 1996 Jul 12;64(1):198-202. doi: 10.1002/(SICI)1096-8628(19960712)64:1<198::AID-AJMG36>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8826476

8

"It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women.

Archibald AD, Jaques AM, Wake S, Collins VR, Cohen J, Metcalfe SA. Archibald AD, et al. Among authors: wake s. Am J Med Genet A. 2009 Dec;149A(12):2731-8. doi: 10.1002/ajmg.a.33122. Am J Med Genet A. 2009. PMID: 19938084

9

"It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.

Archibald AD, Hickerton CL, Jaques AM, Wake S, Cohen J, Metcalfe SA. Archibald AD, et al. Among authors: wake s. Am J Med Genet A. 2013 Jan;161A(1):48-58. doi: 10.1002/ajmg.a.35674. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239566

10

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. Metcalfe S, et al. Among authors: wake s. Genet Med. 2008 Jul;10(7):525-35. doi: 10.1097/gim.0b013e31817c036e. Genet Med. 2008. PMID: 18580686

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