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Results: 1 to 20 of 47

1.

Large-scale whole-genome sequencing of the Icelandic population.

Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J, Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G, Sverrisson JT, Gretarsdottir S, Walters GB, Rafnar T, Thjodleifsson B, Bjornsson ES, Olafsson S, Thorarinsdottir H, Steingrimsdottir T, Gudmundsdottir TS, Theodors A, Jonasson JG, Sigurdsson A, Bjornsdottir G, Jonsson JJ, Thorarensen O, Ludvigsson P, Gudbjartsson H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Arnar DO, Magnusson OT, Kong A, Masson G, Thorsteinsdottir U, Helgason A, Sulem P, Stefansson K.

Nat Genet. 2015 Mar 25. doi: 10.1038/ng.3247. [Epub ahead of print]

PMID:
25807286
2.

Variability of ethics education in laboratory medicine training programs: Results of an international survey.

Bruns DE, Burtis CA, Gronowski AM, McQueen MJ, Newman A, Jonsson JJ; IFCC Task Force on Ethics.

Clin Chim Acta. 2015 Mar 10;442:115-8. doi: 10.1016/j.cca.2014.11.023. Epub 2014 Nov 29.

3.

Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease.

Sahoo S, Aurich MK, Jonsson JJ, Thiele I.

Front Physiol. 2014 Mar 11;5:91. doi: 10.3389/fphys.2014.00091. eCollection 2014. Review.

4.

Impact of different ChIP-Seq protocols on DNA integrity and quality of bioinformatics analysis results.

Felsani A, Gudmundsson B, Nanni S, Brini E, Moles A, Thormar HG, Estibeiro P, Gaetano C, Capogrossi M, Farsetti A, Jonsson JJ, Guffanti A.

Brief Funct Genomics. 2014 Feb 21. [Epub ahead of print]

PMID:
24562761
5.

First trimester detection of trisomy 16 using combined biochemical and ultrasound screening.

Spencer K, Pertile MD, Bonacquisto L, Mills I, Turner S, Donalson K, Jónsson JJ.

Prenat Diagn. 2014 Mar;34(3):291-5. doi: 10.1002/pd.4285. Epub 2013 Dec 19. No abstract available.

PMID:
24353252
6.

Iceland-genetic counseling services.

Stefansdottir V, Arngrimsson R, Jonsson JJ.

J Genet Couns. 2013 Dec;22(6):907-10. doi: 10.1007/s10897-013-9640-0. Epub 2013 Aug 15.

PMID:
23949570
7.

A community-driven global reconstruction of human metabolism.

Thiele I, Swainston N, Fleming RM, Hoppe A, Sahoo S, Aurich MK, Haraldsdottir H, Mo ML, Rolfsson O, Stobbe MD, Thorleifsson SG, Agren R, Bölling C, Bordel S, Chavali AK, Dobson P, Dunn WB, Endler L, Hala D, Hucka M, Hull D, Jameson D, Jamshidi N, Jonsson JJ, Juty N, Keating S, Nookaew I, Le Novère N, Malys N, Mazein A, Papin JA, Price ND, Selkov E Sr, Sigurdsson MI, Simeonidis E, Sonnenschein N, Smallbone K, Sorokin A, van Beek JH, Weichart D, Goryanin I, Nielsen J, Westerhoff HV, Kell DB, Mendes P, Palsson BØ.

Nat Biotechnol. 2013 May;31(5):419-25. doi: 10.1038/nbt.2488. Epub 2013 Mar 3.

8.

Importance of the efficiency of double-stranded DNA formation in cDNA synthesis for the imprecision of microarray expression analysis.

Thormar HG, Gudmundsson B, Eiriksdottir F, Kil S, Gunnarsson GH, Magnusson MK, Hsu JC, Jonsson JJ.

Clin Chem. 2013 Apr;59(4):667-74. doi: 10.1373/clinchem.2012.193839. Epub 2013 Feb 1.

9.

The use of genealogy databases for risk assessment in genetic health service: a systematic review.

Stefansdottir V, Johannsson OT, Skirton H, Tryggvadottir L, Tulinius H, Jonsson JJ.

J Community Genet. 2013 Jan;4(1):1-7. doi: 10.1007/s12687-012-0103-3. Epub 2012 Jul 18.

10.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
11.

A compendium of inborn errors of metabolism mapped onto the human metabolic network.

Sahoo S, Franzson L, Jonsson JJ, Thiele I.

Mol Biosyst. 2012 Oct;8(10):2545-58. doi: 10.1039/c2mb25075f.

PMID:
22699794
12.

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.

Eur J Med Genet. 2012 Jun;55(6-7):437-40. doi: 10.1016/j.ejmg.2012.03.001. Epub 2012 Apr 2.

PMID:
22534424
13.

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.

14.

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.

15.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
16.

Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland.

Tryggvason G, Hilmarsdottir B, Gunnarsson GH, Jónsson JJ, Jónasson JG, Magnússon MK.

APMIS. 2010 Sep 1;118(9):648-56. doi: 10.1111/j.1600-0463.2010.02643.x.

PMID:
20718716
17.

[Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature].

Birgisdottir BT, Asgeirsson H, Arnardottir S, Jonsson JJ, Vidarsson B.

Laeknabladid. 2010 Jun;96(6):413-18. Review. Icelandic.

PMID:
20519771
18.

[A case report - Severe electrolyte disturbances in an eight week old boy].

Sigmarsdóttir AA, Thórsson AV, Sigfússon G, Jónsson JJ, Bjarnason R.

Laeknabladid. 2010 May;96(5):343-6. Icelandic.

PMID:
20445221
19.

Effects of knowledge, education, and experience on acceptance of first trimester screening for chromosomal anomalies.

Stefansdottir V, Skirton H, Jonasson K, Hardardottir H, Jonsson JJ.

Acta Obstet Gynecol Scand. 2010 Jul;89(7):931-8. doi: 10.3109/00016341003686073.

PMID:
20235896
20.

Genome-scale network analysis of imprinted human metabolic genes.

Sigurdsson MI, Jamshidi N, Jonsson JJ, Palsson BO.

Epigenetics. 2009 Jan;4(1):43-6. Epub 2009 Jan 31. Review.

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