Estivill X - Search Results

1

Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus.

Steyn A, Crowther NJ, Norris SA, Rabionet R, Estivill X, Ramsay M. Steyn A, et al. Among authors: estivill x. Epigenomics. 2019 Sep;11(12):1371-1385. doi: 10.2217/epi-2018-0206. Epub 2019 Oct 4. Epigenomics. 2019. PMID: 31583916 Free article.

2

Connexin mutations in hearing loss, dermatological and neurological disorders.

Rabionet R, López-Bigas N, Arbonès ML, Estivill X. Rabionet R, et al. Among authors: estivill x. Trends Mol Med. 2002 May;8(5):205-12. doi: 10.1016/s1471-4914(02)02327-4. Trends Mol Med. 2002. PMID: 12067629 Review.

3

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X. Ballana E, et al. Among authors: estivill x. Biochem Biophys Res Commun. 2006 Mar 24;341(4):950-7. doi: 10.1016/j.bbrc.2006.01.049. Epub 2006 Jan 24. Biochem Biophys Res Commun. 2006. PMID: 16458854

4

Human genetics branches out in Barcelona.

Rabionet R, Espinosa-Parrilla Y, Estivill X. Rabionet R, et al. Among authors: estivill x. Genome Biol. 2008;9(8):318. doi: 10.1186/gb-2008-9-8-318. Epub 2008 Aug 13. Genome Biol. 2008. PMID: 18710599 Free PMC article.

5

Are MYO1C and MYO1F associated with hearing loss?

Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Zadro C, et al. Among authors: estivill x. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5. Biochim Biophys Acta. 2009. PMID: 19027848 Free article.

6

Identification of copy number variants defining genomic differences among major human groups.

Armengol L, Villatoro S, González JR, Pantano L, García-Aragonés M, Rabionet R, Cáceres M, Estivill X. Armengol L, et al. Among authors: estivill x. PLoS One. 2009 Sep 30;4(9):e7230. doi: 10.1371/journal.pone.0007230. PLoS One. 2009. PMID: 19789632 Free PMC article.

7

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis.

Docampo E, Rabionet R, Riveira-Muñoz E, Escaramís G, Julià A, Marsal S, Martín JE, González-Gay MA, Balsa A, Raya E, Martín J, Estivill X. Docampo E, et al. Among authors: estivill x. Arthritis Rheum. 2010 May;62(5):1246-51. doi: 10.1002/art.27381. Arthritis Rheum. 2010. PMID: 20213803 Free article.

8

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis.

Docampo E, Giardina E, Riveira-Muñoz E, de Cid R, Escaramís G, Perricone C, Fernández-Sueiro JL, Maymó J, González-Gay MA, Blanco FJ, Hüffmeier U, Lisbona MP, Martín J, Carracedo A, Reis A, Rabionet R, Novelli G, Estivill X. Docampo E, et al. Among authors: estivill x. Arthritis Rheum. 2011 Jul;63(7):1860-5. doi: 10.1002/art.30340. Arthritis Rheum. 2011. PMID: 21400479 Free article.

9

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.

Miñones-Moyano E, Porta S, Escaramís G, Rabionet R, Iraola S, Kagerbauer B, Espinosa-Parrilla Y, Ferrer I, Estivill X, Martí E. Miñones-Moyano E, et al. Among authors: estivill x. Hum Mol Genet. 2011 Aug 1;20(15):3067-78. doi: 10.1093/hmg/ddr210. Epub 2011 May 10. Hum Mol Genet. 2011. PMID: 21558425

10

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.

Escaramís G, Tornador C, Bassaganyas L, Rabionet R, Tubio JM, Martínez-Fundichely A, Cáceres M, Gut M, Ossowski S, Estivill X. Escaramís G, et al. Among authors: estivill x. PLoS One. 2013 May 21;8(5):e63377. doi: 10.1371/journal.pone.0063377. Print 2013. PLoS One. 2013. PMID: 23704902 Free PMC article.

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