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Items: 1 to 20 of 304


Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

Gudmundsson J, Sigurdsson JK, Stefansdottir L, Agnarsson BA, Isaksson HJ, Stefansson OA, Gudjonsson SA, Gudbjartsson DF, Masson G, Frigge ML, Stacey SN, Sulem P, Halldorsson GH, Tragante V, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Jonsson T, Jonsson E, Barkardottir RB, Hilmarsson R, Asselbergs FW, Geirsson G, Thorsteinsdottir U, Rafnar T, Thorleifsson G, Stefansson K.

Nat Commun. 2018 Nov 8;9(1):4568. doi: 10.1038/s41467-018-06920-9.


Multiple transmissions of de novo mutations in families.

Jónsson H, Sulem P, Arnadottir GA, Pálsson G, Eggertsson HP, Kristmundsdottir S, Zink F, Kehr B, Hjorleifsson KE, Jensson BÖ, Jonsdottir I, Marelsson SE, Gudjonsson SA, Gylfason A, Jonasdottir A, Jonasdottir A, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K.

Nat Genet. 2018 Nov 5. doi: 10.1038/s41588-018-0259-9. [Epub ahead of print]


Resveratrol improves cardiac function and exercise performance in MI-induced heart failure through the inhibition of cardiotoxic HETE metabolites.

Matsumura N, Takahara S, Maayah ZH, Parajuli N, Byrne NJ, Shoieb SM, Soltys CM, Beker DL, Masson G, El-Kadi AOS, Dyck JRB.

J Mol Cell Cardiol. 2018 Oct 28;125:162-173. doi: 10.1016/j.yjmcc.2018.10.023. [Epub ahead of print]


Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2018 Oct 29. doi: 10.1038/s41588-018-0247-0. [Epub ahead of print]


A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K.

Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x.


Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.

Zink F, Magnusdottir DN, Magnusson OT, Walker NJ, Morris TJ, Sigurdsson A, Halldorsson GH, Gudjonsson SA, Melsted P, Ingimundardottir H, Kristmundsdottir S, Alexandersson KF, Helgadottir A, Gudmundsson J, Rafnar T, Jonsdottir I, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Gudbjartsson DF, Thorsteinsdottir U, Halldorsson BV, Stacey SN, Stefansson K.

Nat Genet. 2018 Nov;50(11):1542-1552. doi: 10.1038/s41588-018-0232-7. Epub 2018 Oct 22.


A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J, Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K.

Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018.


A rare missense variant in NR1H4 associates with lower cholesterol levels.

Deaton AM, Sulem P, Nioi P, Benonisdottir S, Ward LD, Davidsson OB, Lao S, Helgadottir A, Fan F, Jensson BO, Norddahl GL, Jonasdottir A, Jonasdottir A, Sigurdsson A, Kristjansson RP, Oddsson A, Arnadottir GA, Jonsson H, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Bjornsson ES, Olafsson S, Steingrimsdottir T, Rafnar T, Thorgeirsson G, Masson G, Thorleifsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K.

Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018.


Ultrafast Maximum-Quantum NMR Spectroscopy for the Analysis of Aromatic Mixtures.

Concilio MG, Jacquemmoz C, Boyarskaya D, Masson G, Dumez JN.

Chemphyschem. 2018 Sep 21. doi: 10.1002/cphc.201800667. [Epub ahead of print]


Author Correction: The rate of meiotic gene conversion varies by sex and age.

Halldorsson BV, Hardarson MT, Kehr B, Styrkarsdottir U, Gylfason A, Thorleifsson G, Zink F, Jonasdottir A, Jonasdottir A, Sulem P, Masson G, Thorsteinsdottir U, Helgason A, Kong A, Gudbjartsson DF, Stefansson K.

Nat Genet. 2018 Nov;50(11):1616. doi: 10.1038/s41588-018-0228-3.


Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

Rafnar T, Gunnarsson B, Stefansson OA, Sulem P, Ingason A, Frigge ML, Stefansdottir L, Sigurdsson JK, Tragante V, Steinthorsdottir V, Styrkarsdottir U, Stacey SN, Gudmundsson J, Arnadottir GA, Oddsson A, Zink F, Halldorsson G, Sveinbjornsson G, Kristjansson RP, Davidsson OB, Salvarsdottir A, Thoroddsen A, Helgadottir EA, Kristjansdottir K, Ingthorsson O, Gudmundsson V, Geirsson RT, Arnadottir R, Gudbjartsson DF, Masson G, Asselbergs FW, Jonasson JG, Olafsson K, Thorsteinsdottir U, Halldorsson BV, Thorleifsson G, Stefansson K.

Nat Commun. 2018 Sep 7;9(1):3636. doi: 10.1038/s41467-018-05428-6.


Focal neurogenic muscle hypertrophy and fasciculations In.

Šinkūnaitė L, Burbaud P, Soulages A, Vergnet S, Duval F, Solé G, Tang HM, Le Masson G, Mathis S.

Muscle Nerve. 2018 Aug 27. doi: 10.1002/mus.26185. [Epub ahead of print] No abstract available.


Visible-Light-Triggered C-C and C-N Bond Formation by C-S Bond Cleavage of Benzylic Thioethers.

Lanzi M, Merad J, Boyarskaya DV, Maestri G, Allain C, Masson G.

Org Lett. 2018 Sep 7;20(17):5247-5250. doi: 10.1021/acs.orglett.8b02196. Epub 2018 Aug 16.


Relatedness disequilibrium regression estimates heritability without environmental bias.

Young AI, Frigge ML, Gudbjartsson DF, Thorleifsson G, Bjornsdottir G, Sulem P, Masson G, Thorsteinsdottir U, Stefansson K, Kong A.

Nat Genet. 2018 Sep;50(9):1304-1310. doi: 10.1038/s41588-018-0178-9. Epub 2018 Aug 13.


Some new proposals for the classification of inherited myopathies.

Mathis S, Tazir M, Solé G, Magy L, Le Masson G, Couratier P, Ghorab K, Duval F, Lacoste I, Goizet C, Vallat JM.

J Neurol Sci. 2018 Aug 15;391:118-119. doi: 10.1016/j.jns.2018.06.014. Epub 2018 Jun 19. No abstract available.


The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

Vallat JM, Tazir M, Magy L, Le Masson G, Mathis S.

Brain. 2018 Sep 1;141(9):e70. doi: 10.1093/brain/awy207. No abstract available.


Access to Enantio-enriched Substituted α-Trifluoromethyl Azepanes from l-Proline.

Masson G, Rioton S, Gomez Pardo D, Cossy J.

Org Lett. 2018 Aug 17;20(16):5019-5022. doi: 10.1021/acs.orglett.8b02167. Epub 2018 Aug 6.


Empagliflozin Prevents Worsening of Cardiac Function in an Experimental Model of Pressure Overload-Induced Heart Failure.

Byrne NJ, Parajuli N, Levasseur JL, Boisvenue J, Beker DL, Masson G, Fedak PWM, Verma S, Dyck JRB.

JACC Basic Transl Sci. 2017 Aug 4;2(4):347-354. doi: 10.1016/j.jacbts.2017.07.003. eCollection 2017 Aug. Review.


Asymmetric iodine catalysis-mediated enantioselective oxidative transformations.

Claraz A, Masson G.

Org Biomol Chem. 2018 Aug 1;16(30):5386-5402. doi: 10.1039/c8ob01378k. Review.


Highly Diastereo- and Enantioselective Synthesis of Cyclohepta[b]indoles by Chiral-Phosphoric-Acid-Catalyzed (4+3) Cycloaddition.

Gelis C, Levitre G, Merad J, Retailleau P, Neuville L, Masson G.

Angew Chem Int Ed Engl. 2018 Sep 10;57(37):12121-12125. doi: 10.1002/anie.201807069. Epub 2018 Aug 16.


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