Lista de obras - Nadia Bahi-Buisson - Dominio Público Uruguay

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

artículo científico publicado en 2010

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

artículo científico publicado en 2015

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

artículo científico publicado en 2010

A novel recurrent LIS1 splice site mutation in classic lissencephaly

artículo científico publicado en 2016

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

artículo científico publicado en 2008

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

artículo científico publicado en 2011

Altered microtubule dynamics in Mecp2-deficient astrocytes

artículo científico publicado en 2012

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

article

Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia

artículo científico publicado en 2005

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans

artículo científico publicado en 2012

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

artículo científico publicado en 2017

Bilateral frontoparietal polymicrogyria

artículo científico publicado en 2014

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

artículo científico publicado en 2009

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

artículo científico publicado en 2015

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

artículo científico publicado en 2010

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

artículo científico publicado en 2010

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

artículo científico publicado en 2017

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

artículo científico publicado en 2015

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials

artículo científico publicado en 2015

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

artículo científico publicado en 2017

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

scientific journal article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

artículo científico publicado en 2018

Developmental and benign movement disorders in childhood

artículo científico publicado en 2010

Diffuse malformations of cortical development

artículo científico publicado en 2013

Effect of desipramine on patients with breathing disorders in RETT syndrome. ⬇️

artículo científico publicado en 2017

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France

artículo científico publicado en 2016

Epilepsy in Menkes disease: analysis of clinical stages.

artículo científico publicado en 2006

Epilepsy in Rett syndrome--lessons from the Rett networked database

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

artículo científico publicado en 2010

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

artículo científico publicado en 2012

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

artículo científico publicado en 2011

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

artículo científico publicado en 2017

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

artículo científico publicado en 2012

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Genetically determined encephalopathy: Rett syndrome

artículo científico publicado en 2013

Genetics and mechanisms leading to human cortical malformations

artículo científico publicado en 2017

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

artículo científico publicado en 2013

InterRett, a model for international data collection in a rare genetic disorder

artículo científico publicado en 2009

Key clinical features to identify girls with CDKL5 mutations

artículo científico publicado en 2008

Linking MECP2 and pain sensitivity: the example of Rett syndrome

scientific article published on 01 May 2010

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

artículo científico publicado en 2017

MRI findings in 77 children with non-syndromic autistic disorder

artículo científico publicado en 2009

MeCP2 deficiency is associated with impaired microtubule stability

artículo científico publicado en 2012

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

artículo científico publicado en 2008

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Mosaic DCX deletion causes subcortical band heterotopia in males

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

artículo científico publicado en 2015

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

artículo científico publicado en 2016

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

artículo científico publicado en 2009

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

artículo científico publicado en 2014

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

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 the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

artículo científico publicado en 2012

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy

artículo científico publicado en 2007

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

artículo científico publicado en 2017

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

artículo científico publicado en 2013

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues

artículo científico publicado en 2017

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

artículo científico publicado en 2017

Rare ACTG1 variants in fetal microlissencephaly

artículo científico publicado en 2015

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

artículo científico publicado en 2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

artículo científico publicado en 2016

Recurrent KIF2A mutations are responsible for classic lissencephaly

artículo científico publicado en 2016

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships

artículo científico publicado en 2012

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

artículo científico publicado en 2006

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

artículo científico publicado en 2012

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

artículo científico publicado el 1 de diciembre de 2010

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

artículo científico publicado en 2009

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

artículo científico publicado en 2015

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

artículo científico publicado en 2013

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

artículo científico publicado en 2009

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

artículo científico publicado en 2008

The phenotype associated with a large deletion on MECP2.

artículo científico publicado en 2012

The three stages of epilepsy in patients with CDKL5 mutations

artículo científico publicado en 2008

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

artículo científico

Transition issues for children with diffuse cortical malformations, multifocal postnatal lesions, (infectious and traumatic) and Lennox-Gastaut and similar syndromes

artículo científico

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

artículo científico publicado en 2016

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations

artículo científico publicado en 2012

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

artículo científico publicado en 2017

Lista de obras de Nadia Bahi-Buisson

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

A novel recurrent LIS1 splice site mutation in classic lissencephaly

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

Altered microtubule dynamics in Mecp2-deficient astrocytes

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Bilateral frontoparietal polymicrogyria

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Developmental and benign movement disorders in childhood

Diffuse malformations of cortical development

Effect of desipramine on patients with breathing disorders in RETT syndrome. ⬇️

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France

Epilepsy in Menkes disease: analysis of clinical stages.

Epilepsy in Rett syndrome--lessons from the Rett networked database

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

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

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

Genetically determined encephalopathy: Rett syndrome

Genetics and mechanisms leading to human cortical malformations

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

InterRett, a model for international data collection in a rare genetic disorder

Key clinical features to identify girls with CDKL5 mutations

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

MRI findings in 77 children with non-syndromic autistic disorder

MeCP2 deficiency is associated with impaired microtubule stability

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mosaic DCX deletion causes subcortical band heterotopia in males

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

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

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 the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

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

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Rare ACTG1 variants in fetal microlissencephaly

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Recurrent KIF2A mutations are responsible for classic lissencephaly

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

Somatic mosaicism for a FOXG1 mutation: diagnostic implication

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females