Lista de obras - Esther Leshinsky-Silver - Dominio Público Uruguay

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

artículo científico publicado en 2012

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

artículo científico publicado en 2010

A new autosomal recessive syndrome with Zellweger-like manifestations.

artículo científico publicado en 2003

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

artículo científico publicado en 2011

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

artículo científico publicado en 2014

A novel STAT3 mutation in a patient with hyper-immunoglobulin E syndrome

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

artículo científico publicado en 2007

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome

artículo científico publicado en 2012

A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease

scientific article published on 01 February 2005

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation

artículo científico publicado en 2014

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

artículo científico publicado en 2015

Association of the M3151 variant in the transient receptor potential vanilloid receptor-1 (TRPV1) gene with type 1 diabetes in an Ashkenazi Jewish population.

artículo científico publicado en 2013

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

artículo científico publicado en 2015

Candidate gene polymorphism in cardiovascular disease: the BIP cohort.

artículo científico publicado en 2006

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene

artículo científico publicado en 2010

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation

artículo científico publicado en 2010

Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene

artículo científico publicado en 2006

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination

artículo científico publicado en 2015

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

artículo científico publicado en 2015

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

artículo científico publicado en 2013

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region

scientific article published on 14 May 2012

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

artículo científico publicado en 2014

Disease behavior in children with Crohn's disease: the effect of disease duration, ethnicity, genotype, and phenotype

Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family

artículo científico publicado el 1 de octubre de 2011

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

artículo científico publicado en 2017

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

artículo científico publicado en 2014

Early-onset Crohn disease is associated with male sex and a polymorphism in the IL-6 promoter

artículo científico publicado en 2010

Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease

scientific article published on 01 October 2007

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

artículo científico publicado en 2014

Familial Brain Periventricular Pseudocysts

artículo científico publicado en 2016

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome

artículo científico publicado en 2004

Familial optic atrophy with white matter changes

artículo científico publicado en 2003

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

artículo científico publicado en 2010

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population

artículo científico publicado en 2011

Granulomas in Crohn's disease: Are newly discovered genetic variants involved? ⬇️

artículo científico publicado el 22 de abril de 2010

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

artículo científico publicado en 2010

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

artículo científico publicado en 2013

IL-10RA truncation mutations and Semite populations

scientific article published on 14 September 2010

Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort

artículo científico publicado en 2005

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence

scientific article published on 31 December 2010

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

artículo científico publicado en 2010

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

artículo científico publicado en 2002

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

artículo científico publicado en 2010

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

artículo científico publicado en 2015

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

scientific article published on 03 November 2011

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

article by Peter Bauer et al published 1 February 2012 in Neurogenetics

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

artículo científico publicado el 8 de octubre de 2010

Myotonia in DNM2-related centronuclear myopathy

artículo científico publicado en 2013

NOD2/CARD15 mutations and presence of granulomas in pediatric and adult Crohn's disease.

artículo científico publicado en 2004

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

artículo científico publicado en 2011

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome ⬇️

artículo científico publicado el 7 de mayo de 2011

Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene

scientific article published on 23 December 2015

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

artículo científico publicado en 2015

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

artículo científico publicado en 2014

Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity

artículo científico publicado en 2004

Pediatric onset Crohnʼs colitis is characterized by genotype-dependent age-related susceptibility

artículo científico publicado en 2007

Polymorphisms in the TNF-alpha promoter and variability in the granulomatous response in patients with Crohn's disease

artículo científico publicado en 2006

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

artículo científico publicado en 2003

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

artículo científico publicado en 2016

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

Reply to: The many faces of TUBB4A mutations

artículo científico publicado en 2014

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

artículo científico publicado en 2012

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

artículo científico publicado en 2012

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

artículo científico publicado en 2017

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

artículo científico publicado en 2008

Should autistic children be evaluated for mitochondrial disorders?

artículo científico publicado en 2004

TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease

artículo científico publicado en 2005

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

artículo científico publicado en 2016

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

artículo científico publicado en 2016

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

artículo científico publicado en 2014

Variants in ZNF365 isoform D are associated with Crohn's disease ⬇️

artículo científico publicado el 21 de enero de 2011

White matter involvement in mitochondrial diseases

artículo científico publicado en 2004

Lista de obras de Esther Leshinsky-Silver

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

A new autosomal recessive syndrome with Zellweger-like manifestations.

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

A novel STAT3 mutation in a patient with hyper-immunoglobulin E syndrome

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome

A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

Association of the M3151 variant in the transient receptor potential vanilloid receptor-1 (TRPV1) gene with type 1 diabetes in an Ashkenazi Jewish population.

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

Candidate gene polymorphism in cardiovascular disease: the BIP cohort.

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation

Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

Disease behavior in children with Crohn's disease: the effect of disease duration, ethnicity, genotype, and phenotype

Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

Early-onset Crohn disease is associated with male sex and a polymorphism in the IL-6 promoter

Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

Familial Brain Periventricular Pseudocysts

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome

Familial optic atrophy with white matter changes

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population

Granulomas in Crohn's disease: Are newly discovered genetic variants involved? ⬇️

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

IL-10RA truncation mutations and Semite populations

Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

Myotonia in DNM2-related centronuclear myopathy

NOD2/CARD15 mutations and presence of granulomas in pediatric and adult Crohn's disease.

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome ⬇️

Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity

Pediatric onset Crohnʼs colitis is characterized by genotype-dependent age-related susceptibility

Polymorphisms in the TNF-alpha promoter and variability in the granulomatous response in patients with Crohn's disease

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Reply to: The many faces of TUBB4A mutations

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Should autistic children be evaluated for mitochondrial disorders?

TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Variants in ZNF365 isoform D are associated with Crohn's disease ⬇️

White matter involvement in mitochondrial diseases