Posts Tagged ‘Estivill X’

A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing.

Martí E, Pantano L, Bañez-Coronel M, Llorens F, Miñones-Moyano E, Porta S, Sumoy L, Ferrer I, Estivill X. A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing. Nucleic Acids Res. 2010 Jun 30. [Epub ahead of print]


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

Pantano L, Estivill X, Martí E. SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells. Nucleic Acids Res. [Epub ahead of print]


Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.

Beckmann JS, Estivill X, Antonarakis SE.  Nat Rev Genet. 2007 Aug;8(8):639-46. Review.


enetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 (NTRK3) gene.

Alonso P, Gratacòs M, Menchón JM, Segalàs C, González JR, Labad J, Bayés M, Real E, de Cid R, Pertusa A, Vallejo J, Estivill X. Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 (NTRK3) gene. Genes Brain Behav. 2008 Jun 30. [Epub ahead of print]


Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.

Ballana E, Wang J, Venail F, Estivill X, Puel JL, Arbonès ML, Bosch A. Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5. Neurosci Lett. 2008 Jun 26. [Epub ahead of print]


Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

Gonzalez JR, Carrasco JL, Armengol L, Vilaroto S, Jover L, Yasui Y, Estivill X.
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). BMC Bioinformatics. 2008 Jun 4;9(1):261. [Epub ahead of print]


MicroRNA allele target sites variants in the neurotrophin receptor type 3 gene (NTRK3) obsessive-compulsive disorder and panic disorder

Muiños-Gimeno M, Guidi M, Kagerbauer B, Gratacòs M, Martín-Santos, M, navinés R, Alonso P, Menchón JM, Estivill X, Espinosa-Parrilla Y. MicroRNA allele target sites variants in the neurotrophin receptor type 3 gene (NTRK3) obsessive-compulsive disorder and panic disorder.
Submitted to the Am J Hum Genet (June 2008).


Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.

Bosch N, Escaramís G, Mercader JM, Armengol L, Estivill X. Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds. Gene. 2008 Sep 1;420(2):113-7. Epub 2008 May 13.


SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet. 2008 Apr 25;4(4):e1000068.


TNFA-308 in Two International Population-Based Cohorts Shows Increased Risk for Asthma.

Castro-Giner F, Kogevinas M, Mächler M, de Cid R, Steen KV, Imboden M, Schindler C, Berger W, Gonzalez JR, Franklin KA, Janson C, Jarvis D, Omenaas E, Burney P, Rochat T, Estivill X, Antó JM, Wjst M, Probst-Hensch NM.
TNFA-308 in Two International Population-Based Cohorts Shows Increased Risk for Asthma.
Eur Respir J. 2008 Apr 2. [Epub ahead of print]