Lista de obras -

Acrocallosal syndrome in fetus: focus on additional brain abnormalities

artículo científico publicado en 2007

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

artículo científico publicado en 2012

Central nervous system malformations and deformations in FGFR2-related craniosynostosis

artículo científico publicado en 2012

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

artículo científico publicado en 2012

Contribution of fetal MR imaging in the evaluation of cerebral ischemic lesions.

artículo científico publicado en 2004

Cytomegalovirus-induced brain malformations in fetuses

artículo científico publicado en 2014

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

artículo científico publicado en 2010

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

artículo científico publicado en 2015

Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall

artículo científico publicado en 2006

Early microglial colonization of the human forebrain and possible involvement in periventricular white-matter injury of preterm infants

artículo científico publicado en 2010

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

artículo científico publicado en 2016

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

artículo científico publicado en 2020

Fetal intracerebral hemorrhage in familial thrombophilia

artículo científico publicado en 2009

Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep.

artículo científico publicado en 2017

Fowler syndrome-a clinical, radiological, and pathological study of 14 cases

scientific article published on 01 January 2010

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

artículo científico publicado en 2010

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

artículo científico publicado en 2017

Human disorders of cortical development: from past to present

artículo científico publicado en 2006

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

artículo científico publicado en 2012

Involvement of the subplate zone in preterm infants with periventricular white matter injury

artículo científico publicado en 2014

Isolated posterior cerebellar vermal defect: a morphological study of midsagittal cerebellar vermis in 4 fetuses--early stage of Dandy-Walker continuum or new vermal dysgenesis?

artículo científico publicado en 2007

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

artículo científico publicado en 2015

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

artículo científico publicado en 2007

Long-standing prion dementia manifesting as posterior cortical atrophy

artículo científico publicado en 2012

Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease

artículo científico publicado en 2007

MRI of the fetal posterior fossa

artículo científico publicado en 2004

MRI of the olfactory bulbs and sulci in human fetuses

artículo científico publicado en 2005

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

artículo científico publicado en 2007

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Microglial reaction in axonal crossroads is a hallmark of noncystic periventricular white matter injury in very preterm infants

artículo científico publicado en 2012

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

artículo científico publicado en 2015

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

artículo científico publicado en 2010

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

artículo científico publicado en 2009

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

artículo científico publicado en 2010

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

artículo científico publicado en 2014

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

artículo científico publicado en 2008

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

artículo científico publicado en 2013

Neuropathology of holoprosencephaly

artículo científico publicado en 2018

No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis

artículo científico publicado en 2018

N° 365 -Autopsies fœtales et périnatales en cas d'anomalies fœtales diagnostiquées avant la naissance avec une analyse chromosomique normale

artículo científico publicado en 2018

Orofaciodigital syndrome with cerebral dysgenesis

artículo científico publicado en 2006

Oto-onycho-peroneal syndrome: further delineation and first fetal report

artículo científico publicado en 2004

Rare ACTG1 variants in fetal microlissencephaly

artículo científico publicado en 2015

The fetal cerebellum: development and common malformations

artículo científico publicado en 2011

The histopathological spectrum of cutaneous meningeal heterotopias: clues and pitfalls.

artículo científico publicado en 2011

Unusual variant of holoprosencephaly in monosomy 13q.

artículo científico publicado en 2002

Lista de obras de

Acrocallosal syndrome in fetus: focus on additional brain abnormalities

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

Central nervous system malformations and deformations in FGFR2-related craniosynostosis

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Contribution of fetal MR imaging in the evaluation of cerebral ischemic lesions.

Cytomegalovirus-induced brain malformations in fetuses

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall

Early microglial colonization of the human forebrain and possible involvement in periventricular white-matter injury of preterm infants

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

Fetal intracerebral hemorrhage in familial thrombophilia

Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep.

Fowler syndrome-a clinical, radiological, and pathological study of 14 cases

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Human disorders of cortical development: from past to present

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

Involvement of the subplate zone in preterm infants with periventricular white matter injury

Isolated posterior cerebellar vermal defect: a morphological study of midsagittal cerebellar vermis in 4 fetuses--early stage of Dandy-Walker continuum or new vermal dysgenesis?

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Long-standing prion dementia manifesting as posterior cortical atrophy

Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease

MRI of the fetal posterior fossa

MRI of the olfactory bulbs and sulci in human fetuses

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Microglial reaction in axonal crossroads is a hallmark of noncystic periventricular white matter injury in very preterm infants

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Neuropathology of holoprosencephaly

No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis

N° 365 -Autopsies fœtales et périnatales en cas d'anomalies fœtales diagnostiquées avant la naissance avec une analyse chromosomique normale

Orofaciodigital syndrome with cerebral dysgenesis

Oto-onycho-peroneal syndrome: further delineation and first fetal report

Rare ACTG1 variants in fetal microlissencephaly

The fetal cerebellum: development and common malformations

The histopathological spectrum of cutaneous meningeal heterotopias: clues and pitfalls.

Unusual variant of holoprosencephaly in monosomy 13q.