Keeney S - Search Results

1

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Porto G, et al. Among authors: keeney s. Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153218 Free PMC article.

2

Clinical utility gene card for: von Willebrand disease.

Cumming AM, Keeney S, Jenkins PV, Nash MJ, O'Donnell JS. Cumming AM, et al. Among authors: keeney s. Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.222. Epub 2011 Jan 5. Eur J Hum Genet. 2011. PMID: 21206511 Free PMC article. No abstract available.

3

Clinical utility gene card for: haemophilia A.

Keeney S, Cumming T, Jenkins PV, O'Donnell JS, Nash MJ. Keeney S, et al. Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.107. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654722 Free PMC article. No abstract available.

4

Clinical utility gene card for: haemophilia B.

Jenkins PV, Keenan C, Keeney S, Cumming T, O'Donnell JS. Jenkins PV, et al. Among authors: keeney s. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.268. Epub 2012 Jan 25. Eur J Hum Genet. 2012. PMID: 22274582 Free PMC article. No abstract available.

5

Clinical utility gene card for: Haemochromatosis [HFE].

Stuhrmann M, Gabriel H, Keeney S. Stuhrmann M, et al. Among authors: keeney s. Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2009.245. Epub 2010 Feb 3. Eur J Hum Genet. 2010. PMID: 20125190 Free PMC article. No abstract available.

6

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.

Keeney S, Mitchell M, Goodeve A; UK Haemophilia Center Doctors' Organization Haemophilia Genetics Laboratory Network. Keeney S, et al. Haemophilia. 2005 Jul;11(4):387-97. doi: 10.1111/j.1365-2516.2005.01111.x. Haemophilia. 2005. PMID: 16011593

7

The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.

Keeney S, Bowen D, Cumming A, Enayat S, Goodeve A, Hill M; UK Haemophilia Centre Doctors' Organisation (UKHCDO). Keeney S, et al. Haemophilia. 2008 Sep;14(5):1099-111. doi: 10.1111/j.1365-2516.2008.01813.x. Epub 2008 Jul 14. Haemophilia. 2008. PMID: 18637846

8

The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population.

Cumming AM, Keeney S, Salden A, Bhavnani M, Shwe KH, Hay CR. Cumming AM, et al. Among authors: keeney s. Br J Haematol. 1997 Aug;98(2):353-5. doi: 10.1046/j.1365-2141.1997.2353052.x. Br J Haematol. 1997. PMID: 9266933 Free article.

9

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.

Gomez K, Laffan M, Keeney S, Sutherland M, Curry N, Lunt P. Gomez K, et al. Among authors: keeney s. Haemophilia. 2019 Jan;25(1):116-126. doi: 10.1111/hae.13637. Haemophilia. 2019. PMID: 30664826

10

C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.

Keeney S, Grundy P, Collins PW, Bowen DJ. Keeney S, et al. Haemophilia. 2007 Jul;13(4):405-8. doi: 10.1111/j.1365-2516.2007.01470.x. Haemophilia. 2007. PMID: 17610557

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