Hedley PL - Search Results

1

The genetic basis of Brugada syndrome: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Hum Mutat. 2009 Sep;30(9):1256-66. doi: 10.1002/humu.21066. Hum Mutat. 2009. PMID: 19606473 Review.

2

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

Brink PA, Crotti L, Corfield V, Goosen A, Durrheim G, Hedley P, Heradien M, Geldenhuys G, Vanoli E, Bacchini S, Spazzolini C, Lundquist AL, Roden DM, George AL Jr, Schwartz PJ. Brink PA, et al. Circulation. 2005 Oct 25;112(17):2602-10. doi: 10.1161/CIRCULATIONAHA.105.572453. Circulation. 2005. PMID: 16246960

3

High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.

Hofman-Bang J, Behr ER, Hedley P, Tfelt-Hansen J, Kanters JK, Haunsøe S, McKenna WJ, Christiansen M. Hofman-Bang J, et al. Clin Genet. 2006 Jun;69(6):504-11. doi: 10.1111/j.1399-0004.2006.00621.x. Clin Genet. 2006. PMID: 16712702

4

Serum leptin in first-trimester Down syndrome pregnancies.

Hedley P, Christiansen M. Hedley P, et al. Prenat Diagn. 2008 Jun;28(6):475-7. doi: 10.1002/pd.1998. Prenat Diagn. 2008. PMID: 18437707

5

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Andersen PS, et al. Hum Mutat. 2009 Mar;30(3):363-70. doi: 10.1002/humu.20862. Hum Mutat. 2009. PMID: 19035361

6

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.

Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. Møller DV, et al. Eur J Hum Genet. 2009 Oct;17(10):1241-9. doi: 10.1038/ejhg.2009.34. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293840 Free PMC article.

7

Leptin in first trimester pregnancy serum: no reduction associated with small-for-gestational-age infants.

Hedley P, Pihl K, Krebs L, Larsen T, Christiansen M. Hedley P, et al. Reprod Biomed Online. 2009 Jun;18(6):832-7. doi: 10.1016/s1472-6483(10)60034-x. Reprod Biomed Online. 2009. PMID: 19490789

8

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Hum Mutat. 2009. PMID: 19862833 Review.

9

The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M. Møller DV, et al. Eur J Heart Fail. 2009 Nov;11(11):1031-5. doi: 10.1093/eurjhf/hfp134. Eur J Heart Fail. 2009. PMID: 19875404 Free article. No abstract available.

10

ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome.

Christiansen M, Pihl K, Hedley PL, Gjerris AC, Lind PØ, Larsen SO, Krebs L, Larsen T. Christiansen M, et al. Among authors: hedley pl. Prenat Diagn. 2010 Feb;30(2):110-4. doi: 10.1002/pd.2405. Prenat Diagn. 2010. PMID: 20013872

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