Lista de obras - V Narayanan - Dominio Público Uruguay

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

artículo científico publicado en 2015

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

artículo científico publicado en 2015

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

artículo científico publicado en 2007

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

artículo científico publicado en 2010

Apoptosis in development and disease of the nervous system: 1. Naturally occurring cell death in the developing nervous system.

artículo científico publicado en 1997

Ataxia with oculomotor apraxia

artículo científico publicado en 2008

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene

artículo científico publicado en 2011

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing

artículo científico publicado en 2014

Chromosomal mapping of the human M6 genes

artículo científico publicado en 1996

Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex.

artículo científico publicado en 2006

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

artículo científico publicado en 2020

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

artículo científico publicado en 2021

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

artículo científico publicado en 2016

Electrophysiological phenotypes of MeCP2 A140V mutant mouse model.

artículo científico publicado en 2014

Epigenetics, autism spectrum, and neurodevelopmental disorders.

artículo científico publicado en 2013

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

artículo científico publicado en 1996

Evidence for population variation in TSC1 and TSC2 gene expression

artículo científico publicado en 2011

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

artículo científico publicado en 2022

Expression of a synapse-associated membrane protein, P84/SHPS-1, and its ligand, IAP/CD47, in mouse retina

artículo científico publicado en 2000

Friedreich's ataxia

scientific article published on 01 May 2003

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

artículo científico

Genetics and child neurology: what every trainee/resident should know.

artículo científico publicado en 2011

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

artículo científico publicado en 2015

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

artículo científico publicado en 2008

Integrin-associated protein is a ligand for the P84 neural adhesion molecule

artículo científico publicado en 1999

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

artículo científico publicado en 2020

Maturational changes in cell surface antigen expression in the mouse retina and optic pathway.

artículo científico publicado en 1998

Misplaced peripherally inserted central catheter: an unusual cause of stroke.

artículo científico publicado en 2004

Molecular cloning of M6: identification of a PLP/DM20 gene family.

artículo científico publicado en 1993

Mutation analysis of the M6b gene in patients with Rett syndrome.

artículo científico publicado en 1998

Primrose Syndrome: characterization of the phenotype in 42 patients

artículo científico publicado en 2020

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.

artículo científico publicado en 2011

Lista de obras de V Narayanan

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

Apoptosis in development and disease of the nervous system: 1. Naturally occurring cell death in the developing nervous system.

Ataxia with oculomotor apraxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing

Chromosomal mapping of the human M6 genes

Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex.

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Electrophysiological phenotypes of MeCP2 A140V mutant mouse model.

Epigenetics, autism spectrum, and neurodevelopmental disorders.

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

Evidence for population variation in TSC1 and TSC2 gene expression

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

Expression of a synapse-associated membrane protein, P84/SHPS-1, and its ligand, IAP/CD47, in mouse retina

Friedreich's ataxia

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

Genetics and child neurology: what every trainee/resident should know.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

Integrin-associated protein is a ligand for the P84 neural adhesion molecule

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

Maturational changes in cell surface antigen expression in the mouse retina and optic pathway.

Misplaced peripherally inserted central catheter: an unusual cause of stroke.

Molecular cloning of M6: identification of a PLP/DM20 gene family.

Mutation analysis of the M6b gene in patients with Rett syndrome.

Primrose Syndrome: characterization of the phenotype in 42 patients

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.