Lista de obras - Vincent El Ghouzzi - Dominio Público Uruguay

A new lysosomal storage disorder resembling Morquio syndrome in sibs

artículo científico publicado en 2012

A novel RAB33B mutation in Smith-McCort dysplasia

artículo científico publicado en 2013

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

artículo científico publicado en 2016

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

artículo científico publicado en 2015

Activated somatostatin type 2 receptors traffic in vivo in central neurons from dendrites to the trans Golgi before recycling

artículo científico publicado en 2007

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

article published in 2007

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Clinical variability in patients with Apert's syndrome

artículo científico publicado en 1999

Conditional induction of Math1 specifies embryonic stem cells to cerebellar granule neuron lineage and promotes differentiation into mature granule neurons

artículo científico publicado en 2013

Craniosynostosis and fetal exposure to sodium valproate ⬇️

artículo científico publicado el 1 de noviembre de 2001

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

artículo científico publicado en 2006

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

artículo científico publicado en 2015

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

artículo científico publicado en 2014

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

artículo científico publicado en 2005

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

artículo científico publicado en 2000

Golgipathies in Neurodevelopment: A New View of Old Defects

artículo científico publicado en 2018

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

artículo científico publicado en 2014

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury

artículo científico publicado en 2011

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

artículo científico publicado en 2005

Molecular and cellular bases of syndromic craniosynostoses

artículo científico publicado en 2003

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

artículo científico publicado en 2006

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

artículo científico publicado en 2016

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

artículo científico publicado en 2001

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

artículo científico publicado en 1999

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

artículo científico publicado en 2000

Recent advances in Dyggve-Melchior-Clausen syndrome

artículo científico publicado en 2004

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

artículo científico publicado en 1999

Stem cell therapy for neonatal brain injury: perspectives and challenges

artículo científico publicado en 2011

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

artículo científico publicado en 2008

Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures.

artículo científico publicado en 2015

Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation

article

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

scientific journal article

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits.

artículo científico publicado en 2008

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

artículo científico publicado en 2016

Lista de obras de Vincent El Ghouzzi

A new lysosomal storage disorder resembling Morquio syndrome in sibs

A novel RAB33B mutation in Smith-McCort dysplasia

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Activated somatostatin type 2 receptors traffic in vivo in central neurons from dendrites to the trans Golgi before recycling

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Clinical variability in patients with Apert's syndrome

Conditional induction of Math1 specifies embryonic stem cells to cerebellar granule neuron lineage and promotes differentiation into mature granule neurons

Craniosynostosis and fetal exposure to sodium valproate ⬇️

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

Golgipathies in Neurodevelopment: A New View of Old Defects

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Molecular and cellular bases of syndromic craniosynostoses

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

Recent advances in Dyggve-Melchior-Clausen syndrome

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

Stem cell therapy for neonatal brain injury: perspectives and challenges

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures.

Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits.

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53