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Results: 1 to 20 of 45

1.

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.

PMID:
24653705
[PubMed]
Free PMC Article
2.

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
[PubMed - as supplied by publisher]
3.

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
[PubMed - in process]
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23455439
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
23378568
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
22806134
[PubMed]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
22530917
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
22093876
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

[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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
19218833
[PubMed - indexed for MEDLINE]
Free Article
19.

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.

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

Genome Res. 2009 Apr;19(4):581-9. doi: 10.1101/gr.086181.108. Epub 2009 Jan 21.

PMID:
19158364
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Positive association between DNA strand breaks in peripheral blood mononuclear cells and polyunsaturated fatty acids in red blood cells from women.

Thorlaksdottir AY, Jonsson JJ, Tryggvadottir L, Skuladottir GV, Petursdottir AL, Ogmundsdottir HM, Eyfjord JE, Hardardottir I.

Nutr Cancer. 2007;59(1):21-8.

PMID:
17927498
[PubMed - indexed for MEDLINE]

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