Lista de obras - Isabelle Brun-Heath - Dominio Público Uruguay

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

artículo científico publicado en 2007

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

artículo científico publicado en 2008

A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta

artículo científico publicado en 2010

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations

scientific article published on 19 December 2004

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments

artículo científico publicado en 2006

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene

artículo científico publicado en 2005

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

artículo científico publicado en 2007

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

artículo científico publicado en 2010

Efficient siRNA-peptide conjugation for specific targeted delivery into tumor cells

artículo científico publicado en 2017

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia.

artículo científico publicado en 2012

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

artículo científico publicado en 2010

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

artículo científico publicado en 2008

Impact of DNA methylation on 3D genome structure

artículo científico publicado en 2021

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

artículo científico publicado en 2008

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

artículo científico publicado en 2009

Molecular basis of Arginine and Lysine DNA sequence-dependent thermo-stability modulation

artículo científico publicado en 2022

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

artículo científico publicado en 2022

Rational design of novel N-alkyl-N capped biostable RNA nanostructures for efficient long-term inhibition of gene expression

artículo científico publicado en 2016

The Impact of the HydroxyMethylCytosine epigenetic signature on DNA structure and function

artículo científico publicado en 2021

Whole-genome bisulfite sequencing of two distinct interconvertible DNA methylomes of mouse embryonic stem cells

artículo científico publicado en 2013

Lista de obras de Isabelle Brun-Heath

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

Efficient siRNA-peptide conjugation for specific targeted delivery into tumor cells

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

Impact of DNA methylation on 3D genome structure

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Molecular basis of Arginine and Lysine DNA sequence-dependent thermo-stability modulation

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

Rational design of novel N-alkyl-N capped biostable RNA nanostructures for efficient long-term inhibition of gene expression

The Impact of the HydroxyMethylCytosine epigenetic signature on DNA structure and function

Whole-genome bisulfite sequencing of two distinct interconvertible DNA methylomes of mouse embryonic stem cells