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Items: 1 to 50 of 56

1.

Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.

Nissen PH, Rejnmark L.

Clin Endocrinol (Oxf). 2019 Nov;91(5):683-690. doi: 10.1111/cen.14078. Epub 2019 Sep 9.

PMID:
31433865
2.

Platelet microRNA expression and association with platelet maturity and function in patients with essential thrombocythemia.

Tran JQD, Pedersen OH, Larsen ML, Grove EL, Kristensen SD, Hvas AM, Nissen PH.

Platelets. 2019 Jun 26:1-8. doi: 10.1080/09537104.2019.1636019. [Epub ahead of print]

PMID:
31240987
3.

Whole blood platelet aggregation determined by the ROTEM platelet equipment; reference intervals and stability.

Nissen PH, Skipper MT, Hvas AM.

Platelets. 2019 Apr 1:1-6. doi: 10.1080/09537104.2019.1595562. [Epub ahead of print]

PMID:
30935283
4.

SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population.

Kjaergaard AD, Larsen OH, Hvas AM, Nissen PH.

Thromb Res. 2019 Mar;175:68-75. doi: 10.1016/j.thromres.2019.01.022. Epub 2019 Jan 31.

PMID:
30721820
5.

The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

Al-Saaidi RA, Rasmussen TB, Birkler RID, Palmfeldt J, Beqqali A, Pinto YM, Nissen PH, Baandrup U, Mølgaard H, Hey TM, Eiskjaer H, Bross P, Mogensen J.

Eur J Heart Fail. 2018 Oct;20(10):1404-1412. doi: 10.1002/ejhf.1241. Epub 2018 Jun 26.

6.

Platelet characteristics in patients with essential thrombocytosis.

Pedersen OH, Larsen ML, Grove EL, van Kooten Niekerk PB, Bønløkke S, Nissen PH, Kristensen SD, Hvas AM.

Cytometry B Clin Cytom. 2018 Nov;94(6):918-927. doi: 10.1002/cyto.b.21642. Epub 2018 Sep 3.

PMID:
29790256
7.

Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia.

Bertocchio JP, Tafflet M, Koumakis E, Maruani G, Vargas-Poussou R, Silve C, Nissen PH, Baron S, Prot-Bertoye C, Courbebaisse M, Souberbielle JC, Rejnmark L, Cormier C, Houillier P.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2534-2542. doi: 10.1210/jc.2017-02773.

PMID:
29727008
8.

Lactase persistence genotyping on whole blood by loop-mediated isothermal amplification and melting curve analysis.

Abildgaard A, Tovbjerg SK, Giltay A, Detemmerman L, Nissen PH.

Clin Chim Acta. 2018 Jul;482:50-56. doi: 10.1016/j.cca.2018.03.029. Epub 2018 Mar 26.

PMID:
29596814
9.

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Gorvin CM, Babinsky VN, Malinauskas T, Nissen PH, Schou AJ, Hanyaloglu AC, Siebold C, Jones EY, Hannan FM, Thakker RV.

Sci Signal. 2018 Feb 20;11(518). pii: eaan3714. doi: 10.1126/scisignal.aan3714.

10.

The impact of pneumatic tube transport on whole blood coagulation and platelet function assays.

Nissen PH, Wulff DE, Tørring N, Hvas AM.

Platelets. 2018 Jun;29(4):421-424. doi: 10.1080/09537104.2018.1430361. Epub 2018 Feb 14.

PMID:
29442531
11.

Platelet function investigation by flow cytometry: Sample volume, needle size, and reference intervals.

Pedersen OH, Nissen PH, Hvas AM.

Platelets. 2018 Mar;29(2):199-202. doi: 10.1080/09537104.2017.1353684. Epub 2017 Sep 29.

PMID:
28960147
12.

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.

Nashabat M, Maegawa G, Nissen PH, Nexo E, Al-Shamrani H, Al-Owain M, Alfadhel M.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e430-e436. doi: 10.1097/MPH.0000000000000857.

PMID:
28538514
13.

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.

Hovden S, Rejnmark L, Ladefoged SA, Nissen PH.

Eur J Endocrinol. 2017 Feb;176(2):177-185. Epub 2016 Nov 15.

PMID:
27913609
14.

Stability of direct oral anticoagulants in whole blood and plasma from patients in steady state treatment.

McGrail R, Revsholm J, Nissen PH, Grove EL, Hvas AM.

Thromb Res. 2016 Dec;148:107-110. doi: 10.1016/j.thromres.2016.10.023. Epub 2016 Oct 27.

PMID:
27835819
15.

Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.

Hovden S, Jespersen ML, Nissen PH, Poulsen PL, Rolighed L, Ladefoged SA, Rejnmark L.

Clin Case Rep. 2016 Aug 18;4(10):922-927. eCollection 2016 Oct.

16.

The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.

Breum Jakobsen NF, Laugesen E, Rolighed L, Nissen PH, Poulsen PL, Pedersen EB, Mosekilde L, Rejnmark L.

Eur J Endocrinol. 2016 Oct;175(4):299-309. doi: 10.1530/EJE-16-0369. Epub 2016 Jul 14.

PMID:
27418061
17.

False low holotranscobalamin levels in a patient with a novel TCN2 mutation.

Keller P, Rufener J, Schild C, Fedosov SN, Nissen PH, Nexo E.

Clin Chem Lab Med. 2016 Nov 1;54(11):1739-1743. doi: 10.1515/cclm-2016-0063.

18.

Genetic polymorphism in the epidermal growth factor receptor gene predicts outcome in advanced non-small cell lung cancer patients treated with erlotinib.

Winther-Larsen A, Nissen PH, Jakobsen KR, Demuth C, Sorensen BS, Meldgaard P.

Lung Cancer. 2015 Nov;90(2):314-20. doi: 10.1016/j.lungcan.2015.09.003. Epub 2015 Sep 8.

PMID:
26386832
19.

Investigation of platelet function and platelet disorders using flow cytometry.

Rubak P, Nissen PH, Kristensen SD, Hvas AM.

Platelets. 2016;27(1):66-74. doi: 10.3109/09537104.2015.1032919. Epub 2015 Apr 22.

PMID:
25901600
20.

Genetic determinants of on-aspirin platelet reactivity: focus on the influence of PEAR1.

Würtz M, Nissen PH, Grove EL, Kristensen SD, Hvas AM.

PLoS One. 2014 Oct 31;9(10):e111816. doi: 10.1371/journal.pone.0111816. eCollection 2014.

21.

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Thim SB, Birkebaek NH, Nissen PH, Høst C.

Acta Paediatr. 2014 Nov;103(11):1117-25. doi: 10.1111/apa.12743. Epub 2014 Aug 24. Review.

PMID:
25039540
22.

EGFR CA repeat polymorphism predict clinical outcome in EGFR mutation positive NSCLC patients treated with erlotinib.

Winther Larsen A, Nissen PH, Meldgaard P, Weber B, Sorensen BS.

Lung Cancer. 2014 Sep;85(3):435-41. doi: 10.1016/j.lungcan.2014.06.016. Epub 2014 Jun 28.

PMID:
25017413
23.

Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study.

Jakobsen NF, Rolighed L, Moser E, Nissen PH, Mosekilde L, Rejnmark L.

Calcif Tissue Int. 2014 Aug;95(2):141-52. doi: 10.1007/s00223-014-9877-0. Epub 2014 Jun 4.

PMID:
24894639
24.

Genotyping increases the yield of angiotensin-converting enzyme in sarcoidosis--a systematic review.

Fløe A, Hoffmann HJ, Nissen PH, Møller HJ, Hilberg O.

Dan Med J. 2014 May;61(5):A4815. Review.

PMID:
24814734
25.

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4.

PMID:
24704780
26.

Development of a high-resolution melting genotyping assay for the angiotensin I converting enzyme insertion/deletion polymorphism and establishment of genotype-specific reference intervals in a Danish population.

Nissen PH, Campbell NB, Højskov CS, Fløe A, Hoffmann HJ, Hilberg O, Ladefoged SA, Møller HJ.

Ann Clin Biochem. 2015 Jan;52(Pt 1):105-12. doi: 10.1177/0004563214529261. Epub 2014 Apr 2.

PMID:
24696153
27.

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Mogensen J, Bross P.

Exp Cell Res. 2013 Nov 15;319(19):3010-9. doi: 10.1016/j.yexcr.2013.08.024. Epub 2013 Aug 31.

PMID:
24001739
28.

Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR).

Jakobsen NF, Rolighed L, Nissen PH, Mosekilde L, Rejnmark L.

Eur J Endocrinol. 2013 Aug 28;169(3):349-57. doi: 10.1530/EJE-13-0224. Print 2013 Sep.

PMID:
23764372
29.

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Hum Mutat. 2013 May;34(5):697-705. doi: 10.1002/humu.22289. Epub 2013 Mar 11.

PMID:
23381804
30.

Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320).

Hoffmann-Lücke E, Arendt JF, Nissen PH, Mikkelsen G, Aasly JO, Nexo E.

Clin Chem Lab Med. 2013 Mar 1;51(3):677-82. doi: 10.1515/cclm-2012-0554.

PMID:
23183759
31.

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.

Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Sørensen KE, Baandrup UT, Bross P, Mogensen J.

Clin Genet. 2013 Jul;84(1):20-30. doi: 10.1111/cge.12056. Epub 2012 Dec 3.

PMID:
23137101
32.

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.

Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J.

J Cardiovasc Electrophysiol. 2012 Oct;23(10):1092-8. doi: 10.1111/j.1540-8167.2012.02371.x. Epub 2012 Aug 6.

PMID:
22882672
33.

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.

Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK.

Int J Legal Med. 2013 Jan;127(1):139-44. doi: 10.1007/s00414-011-0658-2. Epub 2012 Jan 6.

PMID:
22222782
34.

Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.

Larsen MK, Nissen PH, Kristensen IB, Jensen HK, Banner J.

J Forensic Sci. 2012 May;57(3):658-62. doi: 10.1111/j.1556-4029.2011.02028.x. Epub 2012 Jan 4.

PMID:
22220933
35.

Identification of rare and frequent variants of the CASR gene by high-resolution melting.

Nissen PH, Christensen SE, Ladefoged SA, Brixen K, Heickendorff L, Mosekilde L.

Clin Chim Acta. 2012 Mar 22;413(5-6):605-11. doi: 10.1016/j.cca.2011.12.004. Epub 2011 Dec 13.

PMID:
22192860
36.

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J.

Forensic Sci Int. 2012 Jun 10;219(1-3):33-8. doi: 10.1016/j.forsciint.2011.11.020. Epub 2011 Dec 15.

PMID:
22177269
37.

Familial hypocalciuric hypercalcaemia: a review.

Christensen SE, Nissen PH, Vestergaard P, Mosekilde L.

Curr Opin Endocrinol Diabetes Obes. 2011 Dec;18(6):359-70. doi: 10.1097/MED.0b013e32834c3c7c. Review.

PMID:
21986511
38.

Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study.

Isaksen T, Nielsen CS, Christensen SE, Nissen PH, Heickendorff L, Mosekilde L.

Calcif Tissue Int. 2011 Oct;89(4):285-94. doi: 10.1007/s00223-011-9517-x. Epub 2011 Jul 22.

PMID:
21785908
39.

High-resolution melting analysis using unlabeled probe and amplicon scanning simultaneously detects several lactase persistence variants.

Janukonyté J, Vestergaard EM, Ladefoged SA, Nissen PH.

Scand J Clin Lab Invest. 2010 Dec;70(8):535-40. doi: 10.3109/00365513.2010.522251. Epub 2010 Oct 28.

PMID:
21028949
40.

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.

Nissen PH, Nordwall M, Hoffmann-Lücke E, Sorensen BS, Nexo E.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S269-74. doi: 10.1007/s10545-010-9145-z. Epub 2010 Jul 6.

PMID:
20607612
41.

Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders.

Nissen PH, Christensen SE, Wallace A, Heickendorff L, Brixen K, Mosekilde L.

Clin Endocrinol (Oxf). 2010 Jun;72(6):758-62. doi: 10.1111/j.1365-2265.2009.03750.x. Epub 2009 Nov 11.

PMID:
19912241
42.

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Thomsen B, Nissen PH, Agerholm JS, Bendixen C.

Neurogenetics. 2010 May;11(2):175-83. doi: 10.1007/s10048-009-0214-0. Epub 2009 Aug 28.

43.

Skeletal consequences of familial hypocalciuric hypercalcaemia vs. primary hyperparathyroidism.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L.

Clin Endocrinol (Oxf). 2009 Dec;71(6):798-807. doi: 10.1111/j.1365-2265.2009.03557.x. Epub 2009 Feb 25.

PMID:
19250271
44.

Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L.

Eur J Endocrinol. 2008 Dec;159(6):719-27. doi: 10.1530/EJE-08-0440. Epub 2008 Sep 11.

PMID:
18787045
45.

Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L.

Clin Endocrinol (Oxf). 2008 Nov;69(5):713-20. doi: 10.1111/j.1365-2265.2008.03259.x. Epub 2008 Apr 10.

PMID:
18410554
46.
47.

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

Nissen PH, Damgaard D, Stenderup A, Nielsen GG, Larsen ML, Faergeman O.

BMC Med Genet. 2006 Jun 26;7:55.

48.

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

Damgaard D, Nissen PH, Jensen LG, Nielsen GG, Stenderup A, Larsen ML, Faergeman O.

BMC Med Genet. 2005 Apr 20;6:15.

49.

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, Jensen LG, Faergeman O.

Atherosclerosis. 2005 May;180(1):155-60. Epub 2005 Jan 12.

PMID:
15823288
50.

[Investigation and diagnosis of familial hypocalciuric hypercalcemia in Denmark].

Christensen SE, Nissen PH, Schwarz P.

Ugeskr Laeger. 2005 Feb 21;167(8):905-10. Review. Danish. No abstract available.

PMID:
15789846

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