Lista de obras - Ronen Spiegel - Dominio Público Uruguay

"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease

artículo científico publicado en 2003

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

scientific article published on 03 March 2012

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

artículo científico publicado en 2017

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

artículo científico publicado en 2005

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

scientific article published on 01 December 2009

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

artículo científico publicado en 2012

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

artículo científico publicado en 2012

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency

artículo científico publicado en 2010

Acute neonatal suppurative parotitis: case reports and review

artículo científico publicado en 2004

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

artículo científico publicado en 2008

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

artículo científico publicado en 2013

Association of chronic symptomatic neutropenia with the triple A syndrome

artículo científico publicado en 2005

Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler

artículo científico publicado en 2002

Author Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

scientific article published on 14 October 2020

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

artículo científico publicado en 2019

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism

artículo científico publicado en 2019

Campylobacter gastroenteritis in children in north-eastern Israel comparison with other common pathogens

artículo científico publicado en 2020

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

article by Ronen Spiegel et al published 30 September 2011 in American Journal of Medical Genetics

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

artículo científico publicado en 2019

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

artículo científico publicado en 2014

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

scientific article published in Nature Communications

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

artículo científico publicado en 2016

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

artículo científico publicado en 2012

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

artículo científico publicado en 2017

Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

artículo científico publicado en 2013

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

artículo científico publicado en 2012

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

artículo científico publicado en 2014

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

artículo científico publicado en 2016

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Establishing hospital admission criteria of pediatric Henoch-Schonlein purpura

artículo científico publicado en 2014

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience

artículo científico publicado en 2015

Expanding the clinical spectrum of SLC29A3 gene defects

article

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome ⬇️

artículo científico publicado el 24 de marzo de 2012

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

artículo científico publicado en 2015

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Gaucher disease type 3c: New patients with unique presentations and review of the literature

artículo científico publicado en 2019

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

artículo científico publicado en 2009

Genetic spectrum of hereditary neuropathies with onset in the first year of life ⬇️

artículo científico publicado el 11 de agosto de 2011

Glycogen storage disease type III in Israel: presentation and long-term outcome

artículo científico

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

artículo científico publicado en 2015

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

artículo científico publicado en 2017

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

artículo científico publicado en 2016

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

artículo científico publicado en 2005

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis

artículo científico publicado en 2003

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

artículo científico publicado en 2012

Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

artículo científico publicado en 2020

Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

artículo científico publicado en 2020

Kawasaki Disease in Very Young Infants: High Prevalence of Atypical Presentation and Coronary Arteritis ⬇️

artículo científico publicado el 1 de abril de 2003

Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review

artículo científico publicado en 2008

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency

scientific article published on 26 June 2014

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

artículo científico publicado en 2009

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

artículo científico publicado en 2009

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

artículo científico publicado en 2020

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

artículo científico publicado en 2009

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

artículo científico publicado en 2016

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

artículo científico publicado en 2014

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience

artículo científico publicado en 2015

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

artículo científico publicado en 2017

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

artículo científico publicado en 2015

Pseudomonas stutzeri knee arthritis in a child: case report and review

artículo científico publicado en 2007

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

artículo científico publicado en 2009

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

artículo científico publicado en 2005

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

scientific article published on 12 January 2019

Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child

artículo científico publicado en 2009

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation ⬇️

artículo científico publicado el 26 de julio de 2012

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

artículo científico publicado en 2010

The clinical spectrum of fetal Niemann-Pick type C

artículo científico publicado en 2009

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

artículo científico publicado en 2020

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis

scientific article published on 17 July 2019

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

artículo científico publicado en 2017

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

artículo científico publicado en 2015

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

artículo científico publicado en 2006

Lista de obras de Ronen Spiegel

"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency

Acute neonatal suppurative parotitis: case reports and review

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Association of chronic symptomatic neutropenia with the triple A syndrome

Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler

Author Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

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

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism

Campylobacter gastroenteritis in children in north-eastern Israel comparison with other common pathogens

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Establishing hospital admission criteria of pediatric Henoch-Schonlein purpura

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience

Expanding the clinical spectrum of SLC29A3 gene defects

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome ⬇️

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Gaucher disease type 3c: New patients with unique presentations and review of the literature

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

Genetic spectrum of hereditary neuropathies with onset in the first year of life ⬇️

Glycogen storage disease type III in Israel: presentation and long-term outcome

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

Kawasaki Disease in Very Young Infants: High Prevalence of Atypical Presentation and Coronary Arteritis ⬇️

Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Pseudomonas stutzeri knee arthritis in a child: case report and review

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation ⬇️

TMEM70 deficiency: long-term outcome of 48 patients

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

The clinical spectrum of fetal Niemann-Pick type C

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.