Human genetics moves from clinic to bench - and back

Por Ogorelkova, Miroslava, Estivill, Xavier
Publicado em 2005

Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

Por Estivill, Xavier, Armengol, Lluís
Publicado em 2007

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

Por Martí, Eulàlia, Estivill, Xavier
Publicado em 2013

SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells

Por Pantano, Lorena, Estivill, Xavier, Martí, Eulàlia
Publicado em 2010

Human genetics branches out in Barcelona

Por Rabionet, Raquel, Espinosa-Parrilla, Yolanda, Estivill, Xavier
Publicado em 2008

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

Por Bosch Nina, González Juan, Ballana Ester, Estivill Xavier
Publicado em 2007-01-01

ProSeeK: A web server for MLPA probe design

Por Pantano, Lorena, Armengol, Lluís, Villatoro, Sergi, Estivill, Xavier
Publicado em 2008

Tying malaria and microRNAs: from the biology to future diagnostic perspectives

Por Rubio, Mercedes, Bassat, Quique, Estivill, Xavier, Mayor, Alfredo
Publicado no Malar J (2016)

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

Por Ballana, Ester, González, Juan Ramón, Bosch, Nina, Estivill, Xavier
Publicado em 2007

A Recessive Mendelian Model to Predict Carrier Probabilities of DFNB1 for Nonsyndromic Deafness

Por González, Juan R., Wang, Wenyi, Ballana, Ester, Estivill, Xavier
Publicado em 2006

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Por Ballana, Ester, Mercader, Josep Maria, Fischel-Ghodsian, Nathan, Estivill, Xavier
Publicado em 2007

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Por Ars, Elisabet, Serra, Eduard, de la Luna, Susana, Estivill, Xavier, Lázaro, Conxi
Publicado em 2000

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Por Muiños-Gimeno, Margarita, Montfort, Magda, Bayés, Mònica, Estivill, Xavier, Espinosa-Parrilla, Yolanda
Publicado em 2010

Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism

Por Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Publicado em 2009

Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism

Por Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Publicado em 2010

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

Por Zapata, Luis, Susak, Hana, Drechsel, Oliver, Friedländer, Marc R., Estivill, Xavier, Ossowski, Stephan
Publicado no Sci Rep (2017)

miRTrace reveals the organismal origins of microRNA sequencing data

Por Kang, Wenjing, Eldfjell, Yrin, Fromm, Bastian, Estivill, Xavier, Biryukova, Inna, Friedländer, Marc R.
Publicado no Genome Biol (2018)

Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells

Por Guidi, Monica, Muiños-Gimeno, Margarita, Kagerbauer, Birgit, Martí, Eulàlia, Estivill, Xavier, Espinosa-Parrilla, Yolanda
Publicado em 2010

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Por Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Publicado em 2014

Geolocalisation of athletes for out-of-competition drug testing: ethical considerations. Position statement by the WADA Ethics Panel

Por Borry, Pascal, Caulfield, Timothy, Estivill, Xavier, Loland, Sigmund, McNamee, Michael, Knoppers, Bartha Maria
Publicado no Br J Sports Med (2018)