Lista de obras -

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

scientific article published on 26 September 2009

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

artículo científico publicado en 2003

Chromosome 21 and down syndrome: from genomics to pathophysiology

artículo científico publicado en 2004

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

artículo científico publicado en 2002

Correction: Genetic Structure of Europeans: A View from the North–East.

artículo científico publicado en 2010

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

artículo científico publicado en 2015

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

artículo científico publicado en 2008

Domains of genome-wide gene expression dysregulation in Down's syndrome.

artículo científico publicado en 2014

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis

artículo científico publicado en 2006

Exploiting members of the BAHD acyltransferase family to synthesize multiple hydroxycinnamate and benzoate conjugates in yeast.

artículo científico publicado en 2016

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

artículo científico publicado en 2012

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

artículo científico publicado en 2004

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

article

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genome-wide associations of gene expression variation in humans

artículo científico publicado en 2005

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

artículo científico publicado en 2006

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

artículo científico publicado en 2008

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

artículo científico publicado en 2007

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

artículo científico publicado en 2010

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.

artículo científico publicado en 2008

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

artículo científico publicado en 2007

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

artículo científico publicado en 2004

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

artículo científico publicado en 2007

Nineteen additional unpredicted transcripts from human chromosome 21

artículo científico publicado en 2002

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

artículo científico publicado en 2012

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

artículo científico publicado en 2002

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass

artículo científico publicado en 2005

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

artículo científico publicado en 2004

Promoter polymorphisms and allelic imbalance in ABCB1 expression

artículo científico publicado en 2007

SAR11 bacteria linked to ocean anoxia and nitrogen loss.

artículo científico publicado en 2016

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

artículo científico publicado en 2013

The future is genome-wide

artículo científico publicado en 2006

Transcriptional and post-transcriptional profile of human chromosome 21.

artículo científico publicado en 2009

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

artículo científico publicado en 2009

Lista de obras de

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Chromosome 21 and down syndrome: from genomics to pathophysiology

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

Correction: Genetic Structure of Europeans: A View from the North–East.

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

Domains of genome-wide gene expression dysregulation in Down's syndrome.

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis

Exploiting members of the BAHD acyltransferase family to synthesize multiple hydroxycinnamate and benzoate conjugates in yeast.

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

Genetic structure of Europeans: a view from the North-East

Genome-wide associations of gene expression variation in humans

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

Nineteen additional unpredicted transcripts from human chromosome 21

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

Promoter polymorphisms and allelic imbalance in ABCB1 expression

SAR11 bacteria linked to ocean anoxia and nitrogen loss.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

The future is genome-wide

Transcriptional and post-transcriptional profile of human chromosome 21.

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls