Lista de obras - Jamel Chelly - Dominio Público Uruguay

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

artículo científico publicado en 2011

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A shape analysis framework for neuromorphometry

artículo científico publicado en 2002

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

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

Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2

scientific journal article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

artículo científico publicado en 2018

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

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

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

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

scientific journal article

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

artículo científico publicado en 2010

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

artículo científico publicado en 2008

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

Human disorders of cortical development: from past to present

artículo científico publicado en 2006

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

artículo científico publicado en 2003

Key clinical features to identify girls with CDKL5 mutations

artículo científico publicado en 2008

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

artículo científico publicado en 2006

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

artículo científico publicado en 2012

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

artículo científico publicado en 2016

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

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 polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

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

scientific journal article

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

artículo científico publicado en 2012

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

artículo científico publicado en 2006

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

artículo científico publicado en 2019

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

artículo científico publicado en 2022

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome

artículo científico publicado en 2010

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

artículo científico publicado en 2019

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

scientific journal article

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

artículo científico publicado en 2002

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

artículo científico publicado en 2009

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

artículo científico publicado en 2017

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

article

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

artículo científico publicado en 2004

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

artículo científico publicado en 2005

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

artículo científico publicado en 2013

Lista de obras de Jamel Chelly

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

A shape analysis framework for neuromorphometry

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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

Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

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

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

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

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

Defining the phenotypic spectrum of SLC6A1 mutations

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Human disorders of cortical development: from past to present

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

Key clinical features to identify girls with CDKL5 mutations

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

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

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

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

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

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

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 polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

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

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

The landscape of epilepsy-related GATOR1 variants

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Variants in CUL4B are associated with cerebral malformations

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity