Lista de obras - Karine Poirier - Dominio Público Uruguay

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

artículo científico publicado en 2009

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

artículo científico publicado en 2004

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

artículo científico publicado en 2011

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

artículo científico publicado en 2002

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

artículo científico publicado en 2017

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

artículo científico publicado en 2014

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

artículo científico publicado en 2017

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy

artículo científico publicado en 2008

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

scientific journal article

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

artículo científico publicado en 2008

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

artículo científico publicado en 2005

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

Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing

artículo científico publicado en 2008

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

artículo científico publicado en 2012

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

artículo científico publicado en 2010

In vitro follicular growth affects oocyte imprinting establishment in mice

artículo científico publicado en 2003

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

artículo científico publicado en 2007

Loss of Function of KCNC1 is associated with intellectual disability without seizures

artículo científico publicado en 2017

Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma

artículo científico publicado en 2003

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

artículo científico publicado en 2005

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

artículo científico publicado en 2011

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 alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

artículo científico publicado en 2007

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

artículo científico publicado en 2005

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 novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy

artículo científico publicado en 2017

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

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

scientific journal article

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

artículo científico publicado en 2014

Rare ACTG1 variants in fetal microlissencephaly

artículo científico publicado en 2015

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

artículo científico publicado en 2014

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

artículo científico publicado en 2009

The ARX mutations: a frequent cause of X-linked mental retardation.

artículo científico publicado en 2006

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

artículo científico publicado en 2014

The role of ARX in cortical development

artículo científico publicado en 2006

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

artículo científico

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 Karine Poirier

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

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

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy

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

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

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

Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

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

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

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

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

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

In vitro follicular growth affects oocyte imprinting establishment in mice

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

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

Mosaic DCX deletion causes subcortical band heterotopia in males

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

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 alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

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 novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy

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

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

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

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

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

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Rare ACTG1 variants in fetal microlissencephaly

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

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

The ARX mutations: a frequent cause of X-linked mental retardation.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

The role of ARX in cortical development

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

Variants in CUL4B are associated with cerebral malformations

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