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Best matches for Björnsson H[au]:

Recommendations for the integration of genomics into clinical practice. Bowdin S et al. Genet Med. (2016)

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Sobreira N et al. Eur J Hum Genet. (2017)

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome. Benjamin JS et al. Proc Natl Acad Sci U S A. (2017)

Search results

Items: 1 to 50 of 71

1.

Coexpression patterns define epigenetic regulators associated with neurological dysfunction.

Boukas L, Havrilla JM, Hickey PF, Quinlan AR, Bjornsson HT, Hansen KD.

Genome Res. 2019 Apr;29(4):532-542. doi: 10.1101/gr.239442.118. Epub 2019 Mar 11.

2.

[Playing god - progress in genomic medicine].

Bjornsson HT.

Laeknabladid. 2019 Mars;105(3):111. doi: 10.17992/lbl.2019.03.219. Icelandic. No abstract available.

PMID:
30806627
3.

Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

Harris J, Mahone EM, Bjornsson HT.

J Intellect Disabil Res. 2019 Jun;63(6):489-497. doi: 10.1111/jir.12596. Epub 2019 Feb 14.

PMID:
30767315
4.

[Obsessive mind in an injured body?]

Bjornsson HM.

Laeknabladid. 2019 Jan;105(1):9. doi: 10.17992/lbl.2019.01.210. Icelandic. No abstract available.

PMID:
30601121
5.

Kabuki syndrome: international consensus diagnostic criteria.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board.

J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4.

PMID:
30514738
6.

[Climate change and health].

Bjornsson H.

Laeknabladid. 2018 Dec;104(12):539. doi: 10.17992/lbl.2018.12.205. Icelandic. No abstract available.

PMID:
30511643
7.

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

Lee-Barber J, English TE, Britton JF, Sobreira N, Goldstein J, Valle D, Bjornsson HT.

JIMD Rep. 2019;44:9-15. doi: 10.1007/8904_2018_116. Epub 2018 Jun 20.

8.

Mortality associated with drug-induced liver injury (DILI).

Björnsson ES, Björnsson HK.

Transl Gastroenterol Hepatol. 2017 Dec 19;2:114. doi: 10.21037/tgh.2017.11.16. eCollection 2017. No abstract available.

9.

Emergency medicine for 25 Years in Iceland - history of the specialty in a nutshell.

Baldursson J, Björnsson HM, Palomäki A.

Scand J Trauma Resusc Emerg Med. 2018 Jan 3;26(1):1. doi: 10.1186/s13049-017-0467-9.

10.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT.

Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.

11.

[Reduction of shoulder dislocation with the Cunningham method].

Gudmundsson TH, Bjornsson HM.

Laeknabladid. 2017 Sep;103(9):373-376. doi: 10.17992/lbl.2017.09.150. Icelandic.

PMID:
29044033
12.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.

J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.

13.

Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X.

Migeon BR, Beer MA, Bjornsson HT.

PLoS One. 2017 Apr 12;12(4):e0170403. doi: 10.1371/journal.pone.0170403. eCollection 2017.

14.

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.

Benjamin JS, Pilarowski GO, Carosso GA, Zhang L, Huso DL, Goff LA, Vernon HJ, Hansen KD, Bjornsson HT.

Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):125-130. doi: 10.1073/pnas.1611431114. Epub 2016 Dec 20.

15.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

16.

Predictors of Revision Surgery After Primary Anterior Cruciate Ligament Reconstruction.

Yabroudi MA, Björnsson H, Lynch AD, Muller B, Samuelsson K, Tarabichi M, Karlsson J, Fu FH, Harner CD, Irrgang JJ.

Orthop J Sports Med. 2016 Sep 27;4(9):2325967116666039. eCollection 2016 Sep.

17.

Meteorological effects of the solar eclipse of 20 March 2015: analysis of UK Met Office automatic weather station data and comparison with automatic weather station data from the Faroes and Iceland.

Hanna E, Penman J, Jónsson T, Bigg GR, Björnsson H, Sjúrðarson S, Hansen MA, Cappelen J, Bryant RG.

Philos Trans A Math Phys Eng Sci. 2016 Sep 28;374(2077). pii: 20150212. doi: 10.1098/rsta.2015.0212.

18.

A Randomized Controlled Trial With Mean 16-Year Follow-up Comparing Hamstring and Patellar Tendon Autografts in Anterior Cruciate Ligament Reconstruction.

Björnsson H, Samuelsson K, Sundemo D, Desai N, Sernert N, Rostgård-Christensen L, Karlsson J, Kartus J.

Am J Sports Med. 2016 Sep;44(9):2304-13. doi: 10.1177/0363546516646378. Epub 2016 May 26.

PMID:
27229354
19.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK.

Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.

PMID:
27048600
20.

[Incidence of Bicycle injuries presenting to the Emergency Department in Reykjavik 2005-2010].

Jonsson A, Larusson SH, Mogensen A, Bjornsson HM, Mogensen BA.

Laeknabladid. 2016 Feb;102(2):77-82. doi: 10.17992/lbl.2016.02.65. Icelandic.

PMID:
26863253
21.

BRIPPED scan for evaluation of ED patients with shortness of breath.

Stewart VM, Bjornsson HM, Clinton M, Byars DV.

Am J Emerg Med. 2016 Mar;34(3):386-91. doi: 10.1016/j.ajem.2015.11.006. Epub 2015 Nov 5.

PMID:
26704772
22.

A prospective study on the causes of notably raised alanine aminotransferase (ALT).

Björnsson HK, Olafsson S, Bergmann OM, Björnsson ES.

Scand J Gastroenterol. 2016;51(5):594-600. doi: 10.3109/00365521.2015.1121516. Epub 2015 Dec 14.

PMID:
26653080
23.

The Mendelian disorders of the epigenetic machinery.

Bjornsson HT.

Genome Res. 2015 Oct;25(10):1473-81. doi: 10.1101/gr.190629.115.

24.

Secondary sclerosing cholangitis in patients with drug-induced liver injury.

Gudnason HO, Björnsson HK, Gardarsdottir M, Thorisson HM, Olafsson S, Bergmann OM, Björnsson ES.

Dig Liver Dis. 2015 Jun;47(6):502-7. doi: 10.1016/j.dld.2015.03.002. Epub 2015 Mar 11.

PMID:
25840876
25.

[Results of pre-hospital cardiac resuscitation in the Reykjavik area 2004-2007].

Mogensen BA, Bjornsson HM, Thorgeirsson G, Haraldsson GE, Mogensen B.

Laeknabladid. 2015 Mar;101(3):137-41. Icelandic.

PMID:
25735673
26.

No difference in revision rates between single- and double-bundle anterior cruciate ligament reconstruction: a comparative study of 16,791 patients from the Swedish national knee ligament register.

Björnsson H, Andernord D, Desai N, Norrby O, Forssblad M, Petzold M, Karlsson J, Samuelsson K.

Arthroscopy. 2015 Apr;31(4):659-64. doi: 10.1016/j.arthro.2014.11.030. Epub 2015 Jan 21.

PMID:
25618489
27.

[Re: Detection of cerebrospinal fluid leakage with tinted chlorhexidine].

Björnsson H.

Tidsskr Nor Laegeforen. 2015 Jan 13;135(1):10. doi: 10.4045/tidsskr.14.1535. eCollection 2015 Jan 13. Norwegian. No abstract available.

28.

Segmented lateral dyke growth in a rifting event at Bárðarbunga volcanic system, Iceland.

Sigmundsson F, Hooper A, Hreinsdóttir S, Vogfjörd KS, Ófeigsson BG, Heimisson ER, Dumont S, Parks M, Spaans K, Gudmundsson GB, Drouin V, Árnadóttir T, Jónsdóttir K, Gudmundsson MT, Högnadóttir T, Fridriksdóttir HM, Hensch M, Einarsson P, Magnússon E, Samsonov S, Brandsdóttir B, White RS, Ágústsdóttir T, Greenfield T, Green RG, Hjartardóttir ÁR, Pedersen R, Bennett RA, Geirsson H, La Femina PC, Björnsson H, Pálsson F, Sturkell E, Bean CJ, Möllhoff M, Braiden AK, Eibl EP.

Nature. 2015 Jan 8;517(7533):191-5. doi: 10.1038/nature14111. Epub 2014 Dec 15.

29.

Predictors of contralateral anterior cruciate ligament reconstruction: a cohort study of 9061 patients with 5-year follow-up.

Andernord D, Desai N, Björnsson H, Gillén S, Karlsson J, Samuelsson K.

Am J Sports Med. 2015 Feb;43(2):295-302. doi: 10.1177/0363546514557245. Epub 2014 Nov 10.

PMID:
25384505
30.

Patient predictors of early revision surgery after anterior cruciate ligament reconstruction: a cohort study of 16,930 patients with 2-year follow-up.

Andernord D, Desai N, Björnsson H, Ylander M, Karlsson J, Samuelsson K.

Am J Sports Med. 2015 Jan;43(1):121-7. doi: 10.1177/0363546514552788. Epub 2014 Oct 16.

PMID:
25325560
31.

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.

Bjornsson HT, Benjamin JS, Zhang L, Weissman J, Gerber EE, Chen YC, Vaurio RG, Potter MC, Hansen KD, Dietz HC.

Sci Transl Med. 2014 Oct 1;6(256):256ra135. doi: 10.1126/scitranslmed.3009278.

32.

Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.

Weissman J, Naidu S, Bjornsson HT.

Semin Neurol. 2014 Jul;34(3):249-57. doi: 10.1055/s-0034-1386763. Epub 2014 Sep 5. Review.

33.

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

Fahrner JA, Bjornsson HT.

Annu Rev Genomics Hum Genet. 2014;15:269-93. doi: 10.1146/annurev-genom-090613-094245. Review.

34.

Surgical Predictors of Early Revision Surgery After Anterior Cruciate Ligament Reconstruction: Results From the Swedish National Knee Ligament Register on 13,102 Patients.

Andernord D, Björnsson H, Petzold M, Eriksson BI, Forssblad M, Karlsson J, Samuelsson K.

Am J Sports Med. 2014 Jul;42(7):1574-82. doi: 10.1177/0363546514531396. Epub 2014 Apr 28.

PMID:
24778266
35.

Anatomic single- versus double-bundle ACL reconstruction: a meta-analysis.

Desai N, Björnsson H, Musahl V, Bhandari M, Petzold M, Fu FH, Samuelsson K.

Knee Surg Sports Traumatol Arthrosc. 2014 May;22(5):1009-23. doi: 10.1007/s00167-013-2811-6. Epub 2013 Dec 17.

PMID:
24343279
36.

Outcomes after ACL reconstruction with focus on older patients: results from The Swedish National Anterior Cruciate Ligament Register.

Desai N, Björnsson H, Samuelsson K, Karlsson J, Forssblad M.

Knee Surg Sports Traumatol Arthrosc. 2014 Feb;22(2):379-86. doi: 10.1007/s00167-013-2803-6. Epub 2013 Dec 10.

PMID:
24318509
37.

Is double-bundle anterior cruciate ligament reconstruction superior to single-bundle? A comprehensive systematic review.

Björnsson H, Desai N, Musahl V, Alentorn-Geli E, Bhandari M, Fu F, Samuelsson K.

Knee Surg Sports Traumatol Arthrosc. 2015 Mar;23(3):696-739. doi: 10.1007/s00167-013-2666-x. Epub 2013 Sep 15. Review.

PMID:
24037314
38.

Ultrasound-guided peripheral venous access: a systematic review of randomized-controlled trials.

Liu YT, Alsaawi A, Bjornsson HM.

Eur J Emerg Med. 2014 Feb;21(1):18-23. doi: 10.1097/MEJ.0b013e328363bebc. Review.

PMID:
23880981
39.

Incidence, presentation, and outcomes in patients with drug-induced liver injury in the general population of Iceland.

Björnsson ES, Bergmann OM, Björnsson HK, Kvaran RB, Olafsson S.

Gastroenterology. 2013 Jun;144(7):1419-25, 1425.e1-3; quiz e19-20. doi: 10.1053/j.gastro.2013.02.006. Epub 2013 Feb 16.

PMID:
23419359
40.

Ash generation and distribution from the April-May 2010 eruption of Eyjafjallajökull, Iceland.

Gudmundsson MT, Thordarson T, Höskuldsson A, Larsen G, Björnsson H, Prata FJ, Oddsson B, Magnússon E, Högnadóttir T, Petersen GN, Hayward CL, Stevenson JA, Jónsdóttir I.

Sci Rep. 2012;2:572. doi: 10.1038/srep00572. Epub 2012 Aug 14.

41.

The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system.

Sigurdsson MI, Smith AV, Bjornsson HT, Jonsson JJ.

BMC Genet. 2012 Apr 24;13:31. doi: 10.1186/1471-2156-13-31.

42.

Distribution of a marker of germline methylation differs between major families of transposon-derived repeats in the human genome.

Sigurdsson MI, Smith AV, Bjornsson HT, Jonsson JJ.

Gene. 2012 Jan 15;492(1):104-9. doi: 10.1016/j.gene.2011.10.046. Epub 2011 Nov 7.

43.

[Emergency ultrasound for trauma].

Bjornsson HM, Kjartansson H.

Laeknabladid. 2011 Sep;97(9):469-75. Icelandic.

PMID:
21911912
44.

Historical changes in genotypic frequencies at the Pantophysin locus in Atlantic cod (Gadus morhua) in Icelandic waters: evidence of fisheries-induced selection?

Jakobsdóttir KB, Pardoe H, Magnússon Á, Björnsson H, Pampoulie C, Ruzzante DE, Marteinsdóttir G.

Evol Appl. 2011 Jul;4(4):562-73. doi: 10.1111/j.1752-4571.2010.00176.x. Epub 2011 Jan 5.

45.

Isolation and characterization of an antigen from the fish pathogen Moritella viscosa.

Björnsson H, Marteinsson VÞ, Friðjónsson OH, Linke D, Benediktsdóttir E.

J Appl Microbiol. 2011 Jul;111(1):17-25. doi: 10.1111/j.1365-2672.2011.05023.x. Epub 2011 Apr 28.

46.

The influence of age, delay of repair, and tendon involvement in acute rotator cuff tears: structural and clinical outcomes after repair of 42 shoulders.

Björnsson HC, Norlin R, Johansson K, Adolfsson LE.

Acta Orthop. 2011 Apr;82(2):187-92. doi: 10.3109/17453674.2011.566144. Epub 2011 Mar 24.

47.

Ruptured ectopic pregnancy after previously confirmed tubal occlusion by the Essure procedure.

Bjornsson HM, Graffeo CS, Davis SS.

Ann Emerg Med. 2011 Mar;57(3):310-1. doi: 10.1016/j.annemergmed.2010.09.024. No abstract available.

PMID:
21353917
48.

Improving diagnostic accuracy of anaphylaxis in the acute care setting.

Bjornsson HM, Graffeo CS.

West J Emerg Med. 2010 Dec;11(5):456-61.

49.

Physician experience in addition to ACLS training does not significantly affect the outcome of prehospital cardiac arrest.

Bjornsson HM, Marelsson S, Magnusson V, Sigurdsson G, Thorgeirsson G.

Eur J Emerg Med. 2011 Apr;18(2):64-7. doi: 10.1097/MEJ.0b013e32833c6642.

PMID:
20571408
50.

The distribution of four trace elements (Fe, Mn, Cu, Zn) in forage and the relation to scrapie in Iceland.

Eiríksson T, Björnsson H, Gudmundsdóttir KB, Kristinsson J, Jóhannesson T.

Acta Vet Scand. 2010 May 21;52:34. doi: 10.1186/1751-0147-52-34.

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