Rabionet R - Search Results

1

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI. Martín-Nalda A, et al. Among authors: rabionet r. J Clin Immunol. 2020 Oct;40(7):987-1000. doi: 10.1007/s10875-020-00794-7. Epub 2020 Jul 15. J Clin Immunol. 2020. PMID: 32671674 Free PMC article.

2

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.

Rabionet R, Estivill X. Rabionet R, et al. J Med Genet. 1999 Mar;36(3):260-1. J Med Genet. 1999. PMID: 10204859 Free PMC article.

3

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X. Rabionet R, et al. Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. Hum Mutat. 2000. PMID: 10980526 Review.

4

Connexin mutations in hearing loss, dermatological and neurological disorders.

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

5

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: rabionet r. 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

6

Human genetics branches out in Barcelona.

Rabionet R, Espinosa-Parrilla Y, Estivill X. Rabionet R, et al. 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.

7

The emerging role of structural variations in common disorders: initial findings and discovery challenges.

Armengol L, Rabionet R, Estivill X. Armengol L, et al. Among authors: rabionet r. Cytogenet Genome Res. 2008;123(1-4):108-17. doi: 10.1159/000184698. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287145 Review.

8

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: rabionet r. PLoS One. 2009 Sep 30;4(9):e7230. doi: 10.1371/journal.pone.0007230. PLoS One. 2009. PMID: 19789632 Free PMC article.

9

DNA methylation in neurodegenerative disorders: a missing link between genome and environment?

Iraola-Guzmán S, Estivill X, Rabionet R. Iraola-Guzmán S, et al. Among authors: rabionet r. Clin Genet. 2011 Jul;80(1):1-14. doi: 10.1111/j.1399-0004.2011.01673.x. Epub 2011 May 4. Clin Genet. 2011. PMID: 21542837 Review.

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: rabionet r. 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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