Lista de obras - Laurent Villard - Dominio Público Uruguay

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

artículo científico publicado en 2016

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

artículo científico publicado en 2015

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

scientific article published on 01 December 2007

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

artículo científico publicado en 2016

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

scientific article published on 02 April 2020

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

artículo científico publicado en 2021

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

artículo científico publicado en 1999

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

artículo científico publicado en 2015

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

artículo científico publicado en 2002

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

artículo científico publicado en 2018

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

artículo científico publicado en 2002

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

artículo científico publicado en 2011

Analysis of pufferfish homologues of the AT-rich human APP gene ⬇️

artículo científico publicado el 27 de marzo de 1998

Analysis of the Phenotypes in the Rett Networked Database

scientific article published on 27 March 2019

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

article

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain ⬇️

artículo científico publicado el 24 de mayo de 2011

Biogenic amines in Rett syndrome: the usual suspects.

artículo científico publicado en 2009

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

artículo científico publicado en 2005

Carpenter-Waziri syndrome results from a mutation in XNP

artículo científico publicado en 1999

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

artículo científico

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene

artículo científico publicado en 1999

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

artículo científico publicado en 2016

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

scientific article published on 26 April 2019

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

artículo científico publicado en 1994

Construction of a YAC contig spanning the Xq13.3 subband.

artículo científico publicado en 1995

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

artículo científico publicado en 2015

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

article

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

artículo científico publicado en 2002

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

artículo científico publicado en 2020

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

artículo científico publicado en 2009

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

artículo científico publicado en 2005

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase ⬇️

artículo científico publicado el 15 de julio de 1997

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

artículo científico publicado en 2004

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

artículo científico publicado en 2009

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

artículo científico publicado en 2018

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

artículo científico publicado en 1999

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

artículo científico publicado en 2013

Epigenetic study of Rett's syndrome as an adequate model for autistic disorders

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

artículo científico publicado en 2011

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

artículo científico publicado en 2015

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

artículo científico publicado en 1999

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

artículo científico publicado en 2000

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

artículo científico publicado en 2015

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

article

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

artículo científico publicado en 2018

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

artículo científico publicado en 2021

Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem

artículo científico publicado en 2008

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

artículo científico publicado en 2017

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

artículo científico publicado en 2017

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

artículo científico publicado en 2019

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

artículo científico publicado en 2015

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

scientific article published on 08 January 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

artículo científico publicado en 2000

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

artículo científico publicado en 2017

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

article

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

artículo científico publicado en 2000

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

artículo científico publicado en 2013

MECP2 mutations account for most cases of typical forms of Rett syndrome.

artículo científico publicado en 2000

MECP2 mutations in males.

artículo científico publicado en 2007

Map location, genomic organization and expression patterns of the human RED1 RNA editase ⬇️

artículo científico publicado el 1 de marzo de 1997

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

artículo científico publicado en 2000

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

scientific journal article

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

scientific journal article

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

scientific article published on 02 June 2020

Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain

artículo científico publicado en 2000

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse ⬇️

artículo científico publicado el 14 de octubre de 2010

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

artículo científico publicado en 1999

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

artículo científico publicado en 2013

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

artículo científico publicado en 2010

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

artículo científico publicado en 2014

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

artículo científico publicado en 1995

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

artículo científico publicado en 2003

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

artículo científico publicado en 2014

Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model

artículo científico publicado en 2006

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

artículo científico publicado en 2009

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

artículo científico publicado en 2013

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

artículo científico publicado en 2008

Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model

artículo científico publicado en 2007

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

scientific article published on 01 September 1993

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

artículo científico publicado en 2002

Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice.

artículo científico publicado en 2010

Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Rett syndrome from bench to bedside: recent advances.

artículo científico publicado en 2018

Severe neonatal seizures: From molecular diagnosis to precision therapy?

artículo científico publicado en 2016

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

artículo científico publicado en 2014

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

artículo científico publicado en 2009

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

artículo científico publicado en 1998

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

artículo científico publicado en 2006

Spectrum of MECP2 mutations in Rett syndrome

scientific article published on 01 January 2002

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

artículo científico publicado en 1996

TCF4 deletions in Pitt-Hopkins Syndrome

artículo científico publicado en 2008

The M-current works in tandem with the persistent sodium current to set the speed of locomotion

artículo científico publicado en 2020

The incidence of Rett syndrome in France

artículo científico publicado en 2006

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

artículo científico publicado en 2019

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

artículo científico publicado en 2017

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene.

artículo científico publicado en 1999

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

artículo científico publicado en 2007

Two affected boys in a Rett syndrome family: clinical and molecular findings

artículo científico publicado en 2000

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

artículo científico publicado en 1999

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse.

artículo científico publicado en 2008

Unexpected link between Huntington disease and Rett syndrome

artículo científico publicado en 2012

Use of interspersed repetitive sequences-PCR products for cDNA selection

artículo científico publicado en 1995

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

artículo científico publicado en 2015

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

scientific article published on 01 July 1996

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]

artículo científico publicado en 2002

Lista de obras de Laurent Villard

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

Analysis of pufferfish homologues of the AT-rich human APP gene ⬇️

Analysis of the Phenotypes in the Rett Networked Database

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain ⬇️

Biogenic amines in Rett syndrome: the usual suspects.

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Carpenter-Waziri syndrome results from a mutation in XNP

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Construction of a YAC contig spanning the Xq13.3 subband.

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase ⬇️

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

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

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Epigenetic study of Rett's syndrome as an adequate model for autistic disorders

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

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

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

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

MECP2 mutations account for most cases of typical forms of Rett syndrome.

MECP2 mutations in males.

Map location, genomic organization and expression patterns of the human RED1 RNA editase ⬇️

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse ⬇️

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia