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Results: 1 to 20 of 570

1.

Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta.

Vilahur N, Bustamante M, Byun HM, Fernandez MF, Santa Marina L, Basterrechea M, Ballester F, Murcia M, Tardón A, Fernández-Somoano A, Estivill X, Olea N, Sunyer J, Baccarelli AA.

Environ Int. 2014 Jun 27;71C:81-87. doi: 10.1016/j.envint.2014.06.006. [Epub ahead of print]

PMID:
24980756
[PubMed - as supplied by publisher]
2.

Relationship between genome and epigenome - challenges and requirements for future research.

Almouzni G, Altucci L, Amati B, Ashley N, Baulcombe D, Beaujean N, Bock C, Bongcam-Rudloff E, Bousquet J, Braun S, Paillerets BB, Bussemakers M, Clarke L, Conesa A, Estivill X, Fazeli A, Grgurević N, Gut I, Heijmans BT, Hermouet S, Houwing-Duistermaat J, Iacobucci I, Ilaš J, Kandimalla R, Krauss-Etschmann S, Lasko P, Lehmann S, Lindroth A, Majdič G, Marcotte E, Martinelli G, Martinet N, Meyer E, Miceli C, Mills K, Moreno-Villanueva M, Morvan G, Nickel D, Niesler B, Nowacki M, Nowak J, Ossowski S, Pelizzola M, Pochet R, Potočnik U, Radwanska M, Raes J, Rattray M, Robinson MD, Roelen B, Sauer S, Schinzer D, Slagboom E, Spector T, Stunnenberg HG, Tiligada E, Torres-Padilla ME, Tsonaka R, Soom AV, Vidaković M, Widschwendter M.

BMC Genomics. 2014 Jun 18;15:487. doi: 10.1186/1471-2164-15-487.

PMID:
24942464
[PubMed - in process]
Free PMC Article
3.

Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index.

Pardo M, Crujeiras AB, Amil M, Aguera Z, Jiménez-Murcia S, Baños R, Botella C, de la Torre R, Estivill X, Fagundo AB, Fernández-Real JM, Fernández-García JC, Fruhbeck G, Gómez-Ambrosi J, Rodríguez R, Tinahones FJ, Fernández-Aranda F, Casanueva FF.

Int J Endocrinol. 2014;2014:857270. doi: 10.1155/2014/857270. Epub 2014 Apr 22.

PMID:
24864142
[PubMed]
Free PMC Article
4.

Evidence for the biogenesis of more than 1,000 novel human microRNAs.

Friedländer MR, Lizano E, Houben AJ, Bezdan D, Báñez-Coronel M, Kudla G, Mateu-Huertas E, Kagerbauer B, González J, Chen KC, Leproust EM, Martí E, Estivill X.

Genome Biol. 2014 Apr 7;15(4):R57. [Epub ahead of print]

PMID:
24708865
[PubMed - as supplied by publisher]
Free PMC Article
5.

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

Aguado C, Gayà-Vidal M, Villatoro S, Oliva M, Izquierdo D, Giner-Delgado C, Montalvo V, García-González J, Martínez-Fundichely A, Capilla L, Ruiz-Herrera A, Estivill X, Puig M, Cáceres M.

PLoS Genet. 2014 Mar 20;10(3):e1004208. doi: 10.1371/journal.pgen.1004208. eCollection 2014 Mar.

PMID:
24651690
[PubMed - in process]
Free PMC Article
6.

The human early-life exposome (HELIX): project rationale and design.

Vrijheid M, Slama R, Robinson O, Chatzi L, Coen M, van den Hazel P, Thomsen C, Wright J, Athersuch TJ, Avellana N, Basagaña X, Brochot C, Bucchini L, Bustamante M, Carracedo A, Casas M, Estivill X, Fairley L, van Gent D, Gonzalez JR, Granum B, Gražulevičienė R, Gutzkow KB, Julvez J, Keun HC, Kogevinas M, McEachan RR, Meltzer HM, Sabidó E, Schwarze PE, Siroux V, Sunyer J, Want EJ, Zeman F, Nieuwenhuijsen MJ.

Environ Health Perspect. 2014 Jun;122(6):535-44. doi: 10.1289/ehp.1307204. Epub 2014 Mar 6.

PMID:
24610234
[PubMed - in process]
Free PMC Article
7.

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.

Docampo E, Escaramís G, Gratacòs M, Villatoro S, Puig A, Kogevinas M, Collado A, Carbonell J, Rivera J, Vidal J, Alegre J, Estivill X, Rabionet R.

Pain. 2014 Jun;155(6):1102-9. doi: 10.1016/j.pain.2014.02.016. Epub 2014 Feb 26.

PMID:
24582949
[PubMed - in process]
8.

Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

GCAN.

Eur J Hum Genet. 2014 Feb 19. doi: 10.1038/ejhg.2014.1. [Epub ahead of print]

PMID:
24549058
[PubMed - as supplied by publisher]
9.

A genome-wide association study of anorexia nervosa.

Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op 't Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, Desocio JE, Hilliard CE, O'Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC; The Wellcome Trust Case Control Consortium 3, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM.

Mol Psychiatry. 2014 Feb 11. doi: 10.1038/mp.2013.187. [Epub ahead of print]

PMID:
24514567
[PubMed - as supplied by publisher]
10.

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.

Mateu-Huertas E, Rodriguez-Revenga L, Alvarez-Mora MI, Madrigal I, Willemsen R, Milà M, Martí E, Estivill X.

Neurobiol Dis. 2014 May;65:43-54. doi: 10.1016/j.nbd.2013.12.020. Epub 2014 Jan 10.

PMID:
24418349
[PubMed - in process]
11.

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases.

Martí E, Estivill X.

Front Mol Neurosci. 2013 Dec 3;6:45. doi: 10.3389/fnmol.2013.00045. Review.

PMID:
24348326
[PubMed]
Free PMC Article
12.

Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.

Molina-Vila MA, Nabau-Moretó N, Tornador C, Sabnis AJ, Rosell R, Estivill X, Bivona TG, Marino-Buslje C.

Hum Mutat. 2014 Mar;35(3):318-28. doi: 10.1002/humu.22493. Epub 2014 Jan 8.

PMID:
24323975
[PubMed - in process]
13.

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment.

Fonseca F, Gratacòs M, Escaramís G, De Cid R, Martín-Santos R, Farré M, Estivill X, Torrens M.

Eur Neuropsychopharmacol. 2014 Mar;24(3):420-4. doi: 10.1016/j.euroneuro.2013.10.003. Epub 2013 Oct 18.

PMID:
24230997
[PubMed - in process]
14.

Cluster analysis of clinical data identifies fibromyalgia subgroups.

Docampo E, Collado A, Escaramís G, Carbonell J, Rivera J, Vidal J, Alegre J, Rabionet R, Estivill X.

PLoS One. 2013 Sep 30;8(9):e74873. doi: 10.1371/journal.pone.0074873. eCollection 2013.

PMID:
24098674
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.

't Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T.

Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15.

PMID:
24037425
[PubMed - in process]
16.

Transcriptome and genome sequencing uncovers functional variation in humans.

Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET; Geuvadis Consortium.

Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.

PMID:
24037378
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14.

PMID:
23942198
[PubMed - in process]
18.

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J, Costa J, Gartner S, Oliva C, Quintana E, Gonzalez MI, Vazquez C, Estivill X, Casals T.

Clin Genet. 2014 Jul;86(1):91-5. doi: 10.1111/cge.12234. Epub 2013 Jul 28.

PMID:
23837941
[PubMed - in process]
19.

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.

Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X.

BMC Genet. 2013 Jul 6;14:61. doi: 10.1186/1471-2156-14-61.

PMID:
23829304
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedländer MR, Martí E, Estivill X, Milà M.

Genes Brain Behav. 2013 Aug;12(6):595-603. doi: 10.1111/gbb.12061. Epub 2013 Jul 24.

PMID:
23790110
[PubMed - indexed for MEDLINE]

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