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122 results

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Page 1
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. Erdmann J, et al. Among authors: kaiser fj. Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10. Nature. 2013. PMID: 24213632
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Among authors: kaiser fj. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772
Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation.
Miller CL, Haas U, Diaz R, Leeper NJ, Kundu RK, Patlolla B, Assimes TL, Kaiser FJ, Perisic L, Hedin U, Maegdefessel L, Schunkert H, Erdmann J, Quertermous T, Sczakiel G. Miller CL, et al. Among authors: kaiser fj. PLoS Genet. 2014 Mar 27;10(3):e1004263. doi: 10.1371/journal.pgen.1004263. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24676100 Free PMC article.
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Platzer K, et al. Among authors: kaiser fj. Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5. Am J Med Genet A. 2014. PMID: 24798461 Review.
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. Domingo A, et al. Among authors: kaiser fj. Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604858 Free PMC article.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: kaiser fj. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28. Hum Genet. 2015. PMID: 25724810 Clinical Trial.
122 results