Lista de obras - Benjamín Rodríguez-Santiago

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

artículo científico publicado en 2015

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

artículo científico publicado en 2011

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

artículo científico publicado en 2011

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

artículo científico publicado en 2009

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

artículo científico publicado en 2013

Characterization of large structural genetic mosaicism in human autosome

artículo científico publicado en 2015

Cholinesterase inhibitor rivastigmine enhance the mitochondrial electron transport chain in lymphocytes of patients with Alzheimer's disease.

artículo científico publicado en 2003

Clinical implication of FMR1 intermediate alleles in a Spanish population.

artículo científico publicado en 2018

Contribution of rare copy number variants to isolated human malformations

artículo científico publicado en 2012

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

artículo científico publicado en 2011

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Detectable clonal mosaicism and its relationship to aging and cancer

artículo científico publicado en 2012

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

artículo científico publicado en 2017

Erratum to: The UBC-40 Urothelial Bladder Cancer Cell Line Index: a genomic resource for functional studies.

artículo científico publicado en 2015

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients.

artículo científico publicado en 2005

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

artículo científico publicado en 2016

Further delineation of the phenotype caused by loss of function mutations in PRMT7

artículo científico publicado en 2018

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

artículo científico publicado en 2008

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

artículo científico publicado en 2012

Improvement of mitochondrial toxicity in patients receiving a nucleoside reverse-transcriptase inhibitor-sparing strategy: results from the Multicenter Study with Nevirapine and Kaletra (MULTINEKA).

artículo científico publicado en 2009

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

artículo científico publicado en 2015

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

artículo científico publicado en 2007

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

Mild improvement in mitochondrial function after a 3-year antiretroviral treatment interruption despite persistent impairment of mitochondrial DNA content

artículo científico publicado en 2010

Mitochondrial DNA depletion and respiratory chain enzyme deficiencies are present in peripheral blood mononuclear cells of HIV-infected patients with HAART-related lipodystrophy.

artículo científico publicado en 2003

Mitochondrial effects of antiretroviral therapies in asymptomatic patients.

artículo científico publicado en 2004

Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer's disease.

artículo científico publicado en 2005

Mosaic loss of chromosome Y is associated with common variation near TCL1A

artículo científico publicado en 2016

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

artículo científico publicado en 2010

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

artículo científico publicado en 2016

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

artículo científico publicado en 2008

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

artículo científico publicado en 2017

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

artículo científico publicado en 2019

Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy

artículo científico publicado en 2003

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

artículo científico publicado en 2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

artículo científico publicado en 2015

Síndrome de Bardet-Biedl: Aplicación diagnóstica de la secuenciación del exoma

scientific article published on 26 October 2013

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies

artículo científico publicado en 2015

Lista de obras de Benjamín Rodríguez-Santiago

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

Characterization of large structural genetic mosaicism in human autosome

Cholinesterase inhibitor rivastigmine enhance the mitochondrial electron transport chain in lymphocytes of patients with Alzheimer's disease.

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Contribution of rare copy number variants to isolated human malformations

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Detectable clonal mosaicism and its relationship to aging and cancer

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

Erratum to: The UBC-40 Urothelial Bladder Cancer Cell Line Index: a genomic resource for functional studies.

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients.

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Further delineation of the phenotype caused by loss of function mutations in PRMT7

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

Improvement of mitochondrial toxicity in patients receiving a nucleoside reverse-transcriptase inhibitor-sparing strategy: results from the Multicenter Study with Nevirapine and Kaletra (MULTINEKA).

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Mild improvement in mitochondrial function after a 3-year antiretroviral treatment interruption despite persistent impairment of mitochondrial DNA content

Mitochondrial DNA depletion and respiratory chain enzyme deficiencies are present in peripheral blood mononuclear cells of HIV-infected patients with HAART-related lipodystrophy.

Mitochondrial effects of antiretroviral therapies in asymptomatic patients.

Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer's disease.

Mosaic loss of chromosome Y is associated with common variation near TCL1A

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

Síndrome de Bardet-Biedl: Aplicación diagnóstica de la secuenciación del exoma

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies