Lista de obras -

Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction

artículo científico publicado en 2008

CLIFinder: Identification of LINE-1 Chimeric Transcripts in RNA-seq data.

artículo científico publicado en 2017

DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection.

artículo científico publicado en 2005

DNA microarray analysis of gene expression profiles in deep endometriosis using laser capture microdissection.

artículo científico publicado en 2004

Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis

artículo científico publicado en 2017

Fluorescent mRNA labeling through cytoplasmic FISH.

artículo científico publicado en 2013

Genes involved in leukodystrophies: a glance at glial functions.

artículo científico publicado en 2008

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

artículo científico publicado en 2006

In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency

artículo científico publicado en 2014

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

artículo científico publicado en 2003

Low frequency of microsatellite instability in BRCA1 mutated breast tumours.

artículo científico publicado en 2000

Molecular abnormalities in epithelial ovarian tumors: present and future

artículo científico publicado en 2001

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

artículo científico publicado en 2011

Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD ⬇️

artículo científico publicado el 11 de marzo de 2011

Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.

artículo científico publicado en 2009

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

artículo científico publicado en 2006

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

artículo científico publicado en 2008

Pathology of sporadic breast tumors with LOH at the BRCA1 locus: correlation with histopathological features specific to familial BRCA1 tumors and absence of microsatellite instability.

artículo científico publicado en 1998

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

scientific article published on 18 January 2011

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

artículo científico publicado en 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

artículo científico publicado en 2011

The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival

artículo científico publicado en 2015

Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms

scientific article published on 18 September 2019

Lista de obras de

Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction

CLIFinder: Identification of LINE-1 Chimeric Transcripts in RNA-seq data.

DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection.

DNA microarray analysis of gene expression profiles in deep endometriosis using laser capture microdissection.

Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis

Fluorescent mRNA labeling through cytoplasmic FISH.

Genes involved in leukodystrophies: a glance at glial functions.

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

Low frequency of microsatellite instability in BRCA1 mutated breast tumours.

Molecular abnormalities in epithelial ovarian tumors: present and future

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD ⬇️

Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Pathology of sporadic breast tumors with LOH at the BRCA1 locus: correlation with histopathological features specific to familial BRCA1 tumors and absence of microsatellite instability.

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival

Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms