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Items: 19

1.

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

Bork K, Wulff K, Rossmann H, Steinmüller-Magin L, Braenne I, Witzke G, Hardt J.

Allergy. 2019 Dec;74(12):2479-2481. doi: 10.1111/all.13869. Epub 2019 Jun 7. No abstract available.

PMID:
31087670
2.

A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.

Demal TJ, Heise M, Reiz B, Dogra D, Brænne I, Reichenspurner H, Männer J, Aherrahrou Z, Schunkert H, Erdmann J, Abdelilah-Seyfried S.

Sci Rep. 2019 Feb 27;9(1):2959. doi: 10.1038/s41598-019-39648-7.

3.

Druggability of Coronary Artery Disease Risk Loci.

Tragante V, Hemerich D, Alshabeeb M, Brænne I, Lempiäinen H, Patel RS, den Ruijter HM, Barnes MR, Moore JH, Schunkert H, Erdmann J, Asselbergs FW.

Circ Genom Precis Med. 2018 Aug;11(8):e001977. doi: 10.1161/CIRCGEN.117.001977.

4.

Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets.

Lempiäinen H, Brænne I, Michoel T, Tragante V, Vilne B, Webb TR, Kyriakou T, Eichner J, Zeng L, Willenborg C, Franzen O, Ruusalepp A, Goel A, van der Laan SW, Biegert C, Hamby S, Talukdar HA, Foroughi Asl H; CVgenes@target consortium, Pasterkamp G, Watkins H, Samani NJ, Wittenberger T, Erdmann J, Schunkert H, Asselbergs FW, Björkegren JLM.

Sci Rep. 2018 Feb 21;8(1):3434. doi: 10.1038/s41598-018-20721-6.

5.

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K.

Genes (Basel). 2017 Oct 18;8(10). pii: E276. doi: 10.3390/genes8100276. Review.

6.

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.

Brænne I, Willenborg C, Tragante V, Kessler T, Zeng L, Reiz B, Kleinecke M, von Ameln S, Willer CJ, Laakso M, Wild PS, Zeller T, Wallentin L, Franks PW, Salomaa V, Dehghan A, Meitinger T, Samani NJ, Asselbergs FW, Erdmann J, Schunkert H.

Sci Rep. 2017 Aug 31;7(1):10252. doi: 10.1038/s41598-017-10928-4.

7.

Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk.

Brænne I, Zeng L, Willenborg C, Tragante V, Kessler T; CARDIoGRAM Consortium; CARDIoGRAMplusC4D Consortium, Willer CJ, Laakso M, Wallentin L, Franks PW, Salomaa V, Dehghan A, Meitinger T, Samani NJ, Asselbergs FW, Erdmann J, Schunkert H.

PLoS One. 2017 Aug 22;12(8):e0182999. doi: 10.1371/journal.pone.0182999. eCollection 2017.

8.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A.

Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27. No abstract available.

PMID:
27787937
9.

PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology.

Klein C, Löchte T, Delamonte SM, Braenne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K.

Mov Disord. 2016 Dec;31(12):1927-1929. doi: 10.1002/mds.26814. Epub 2016 Oct 6. No abstract available.

PMID:
27709683
10.

Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.

Brænne I, Civelek M, Vilne B, Di Narzo A, Johnson AD, Zhao Y, Reiz B, Codoni V, Webb TR, Foroughi Asl H, Hamby SE, Zeng L, Trégouët DA, Hao K, Topol EJ, Schadt EE, Yang X, Samani NJ, Björkegren JL, Erdmann J, Schunkert H, Lusis AJ; Leducq Consortium CAD Genomics‡.

Arterioscler Thromb Vasc Biol. 2015 Oct;35(10):2207-17. doi: 10.1161/ATVBAHA.115.306108. Epub 2015 Aug 20.

11.

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger T, Erdmann J, Schunkert H.

Eur J Hum Genet. 2016 Feb;24(2):191-7. doi: 10.1038/ejhg.2015.100. Epub 2015 Jun 3.

12.

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C.

Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21.

13.

Expression quantitative trait Loci acting across multiple tissues are enriched in inherited risk for coronary artery disease.

Foroughi Asl H, Talukdar HA, Kindt AS, Jain RK, Ermel R, Ruusalepp A, Nguyen KD, Dobrin R, Reilly DF, Schunkert H, Samani NJ, Braenne I, Erdmann J, Melander O, Qi J, Ivert T, Skogsberg J, Schadt EE, Michoel T, Björkegren JL; CARDIoGRAM Consortium.

Circ Cardiovasc Genet. 2015 Apr;8(2):305-15. doi: 10.1161/CIRCGENETICS.114.000640. Epub 2015 Jan 11.

PMID:
25578447
14.

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K.

J Neurol. 2015 Jan;262(1):187-93. doi: 10.1007/s00415-014-7547-9. Epub 2014 Oct 31.

PMID:
25359261
15.

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ.

Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2. Erratum in: Hum Mutat. 2015 Feb;36(2):279-80.

PMID:
25196272
16.

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

Brænne I, Reiz B, Medack A, Kleinecke M, Fischer M, Tuna S, Hengstenberg C, Deloukas P, Erdmann J, Schunkert H; Cardiogenics consortium.

BMC Cardiovasc Disord. 2014 Aug 26;14:108. doi: 10.1186/1471-2261-14-108.

17.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction.

Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM, Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H.

Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10.

PMID:
24213632
18.

Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

Linsel-Nitschke P, Götz A, Erdmann J, Braenne I, Braund P, Hengstenberg C, Stark K, Fischer M, Schreiber S, El Mokhtari NE, Schaefer A, Schrezenmeir J, Rubin D, Hinney A, Reinehr T, Roth C, Ortlepp J, Hanrath P, Hall AS, Mangino M, Lieb W, Lamina C, Heid IM, Doering A, Gieger C, Peters A, Meitinger T, Wichmann HE, König IR, Ziegler A, Kronenberg F, Samani NJ, Schunkert H; Wellcome Trust Case Control Consortium (WTCCC); Cardiogenics Consortium.

PLoS One. 2008 Aug 20;3(8):e2986. doi: 10.1371/journal.pone.0002986. Erratum in: PLoS ONE. 2008;3(9). doi: 10.1371/annotation/9f64c41a-8cf6-40f2-8988-0d48b04dd8cb. Schrezenmeier, Jürgen [corrected to Schrezenmeir, Jürgen].

19.

Genomewide association analysis of coronary artery disease.

Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, Dixon RJ, Meitinger T, Braund P, Wichmann HE, Barrett JH, König IR, Stevens SE, Szymczak S, Tregouet DA, Iles MM, Pahlke F, Pollard H, Lieb W, Cambien F, Fischer M, Ouwehand W, Blankenberg S, Balmforth AJ, Baessler A, Ball SG, Strom TM, Braenne I, Gieger C, Deloukas P, Tobin MD, Ziegler A, Thompson JR, Schunkert H; WTCCC and the Cardiogenics Consortium.

N Engl J Med. 2007 Aug 2;357(5):443-53. Epub 2007 Jul 18.

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