Lista de obras - S Rangasamy - Dominio Público Uruguay

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

artículo científico publicado en 2015

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

artículo científico publicado en 2016

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

artículo científico publicado en 2017

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

scientific article published on 01 July 2018

A potential role for angiopoietin 2 in the regulation of the blood-retinal barrier in diabetic retinopathy

artículo científico publicado en 2011

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

artículo científico publicado en 2019

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

artículo científico publicado en 2017

Chemokine mediated monocyte trafficking into the retina: role of inflammation in alteration of the blood-retinal barrier in diabetic retinopathy

artículo científico publicado en 2014

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

scientific article published on 20 November 2019

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

artículo científico publicado en 2020

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

artículo científico publicado en 2018

Diabetic Macular Edema: Pathophysiology and Novel Therapeutic Targets

artículo científico publicado en 2015

Diabetic retinopathy and inflammation: novel therapeutic targets.

artículo científico publicado en 2012

Do Genomic Factors Play a Role in Diabetic Retinopathy?

scientific article published on 14 January 2020

Epigenetics, autism spectrum, and neurodevelopmental disorders.

artículo científico publicado en 2013

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

artículo científico publicado en 2017

Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy

artículo científico publicado en 2020

Incontinentia pigmenti (Bloch-Sulzberger syndrome)

artículo científico publicado en 2015

Molecular intricacies and the role of ER stress in diabetes.

artículo científico publicado en 2012

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

artículo científico publicado en 2018

New treatments for diabetic retinopathy.

artículo científico publicado en 2014

Pericyte-derived sphingosine 1-phosphate induces the expression of adhesion proteins and modulates the retinal endothelial cell barrier.

artículo científico publicado en 2011

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

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

artículo científico publicado en 2016

The role of monocyte subsets in myocutaneous revascularization.

artículo científico publicado en 2013

Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy

scientific article published on 04 May 2020

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

scientific article published on 24 June 2019

Lista de obras de S Rangasamy

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

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

A potential role for angiopoietin 2 in the regulation of the blood-retinal barrier in diabetic retinopathy

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

Chemokine mediated monocyte trafficking into the retina: role of inflammation in alteration of the blood-retinal barrier in diabetic retinopathy

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

Diabetic Macular Edema: Pathophysiology and Novel Therapeutic Targets

Diabetic retinopathy and inflammation: novel therapeutic targets.

Do Genomic Factors Play a Role in Diabetic Retinopathy?

Epigenetics, autism spectrum, and neurodevelopmental disorders.

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy

Incontinentia pigmenti (Bloch-Sulzberger syndrome)

Molecular intricacies and the role of ER stress in diabetes.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

New treatments for diabetic retinopathy.

Pericyte-derived sphingosine 1-phosphate induces the expression of adhesion proteins and modulates the retinal endothelial cell barrier.

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

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

The role of monocyte subsets in myocutaneous revascularization.

Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2